Cited by 87Hypothalamic control of reproductive hormonesFibroblast Growth Factor ResearchOlfactory and Sensory Function Studies

The DOI matches its Crossref record; 238 of the 238 references it cites were found in a registry or an index.

Diversity in Fibroblast Growth Factor Receptor 1 Regulation: Learning from the Investigation of Kallmann Syndrome

Kim, S.‐H., Hu, Y., Cadman, S., Bouloux, P.·2008·Journal of Neuroendocrinology

DOI 10.1111/j.1365-2826.2007.01627.x

Open this paper in CoChat — free account

Abstract

The unravelling of the genetic basis of the hypogonadotrophic hypogonadal disorders, including Kallmann syndrome (KS), has led to renewed interest into the developmental biology of gonadotrophin‐releasing hormone (GnRH) neurones and, more generally, into the molecular mechanisms of reproduction. KS is characterised by the association of GnRH deficiency with diminished olfaction. Until recently, only two KS‐associated genes were known: KAL1 and KAL2. KAL1 encodes the cell membrane and extracellular matrix‐associated secreted protein anosmin‐1 which is implicated in the X‐linked form of KS. Anosmin‐1 shows high affinity binding to heparan sulphate (HS) and its function remains the focus of ongoing investigation, although a role in axonal guidance and neuronal migration, which are processes essential for normal GnRH ontogeny and olfactory bulb histogenesis, has been suggested. KAL2, identified as the fibroblast growth factor receptor 1 (FGFR1) gene, has now been recognised to be the underlying genetic defect for an autosomal dominant form of KS. The diverse signalling pathways initiated upon FGFR activation can elicit pleiotropic cellular responses depending on the cellular context. Signalling through FGFR requires HS for receptor dimerisation and ligand binding. Current evidence supports a HS‐dependent interaction between anosmin‐1 and FGFR1, where anosmin‐1 serves as a co‐ligand activator enhancing the signal acitivity, the finer details of whose mechanism remain the subject of intense investigation. Recently, mutations in the genes encoding prokineticin 2 (PK2) and prokineticin receptor 2 (PKR2) were reported in a cohort of KS patients, further reinforcing the view of KS as a multigenic trait involving divergent pathways. Here, we review the historical and current understandings of KS and discuss the latest findings from the molecular and cellular studies of the KS‐associated proteins, and describe the evidence that suggests convergence of several of these pathways during normal GnRH and olfactory neuronal ontogeny.

Integrity signals

Registry

Crossref · 10.1111/j.1365-2826.2007.01627.x

Cites

238 of 238 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cell Signaling by Receptor Tyrosine Kinases
Lemmon, M. A., & Schlessinger, J. (2010) · Cell · doi:10.1016/j.cell.2010.06.011 · Cited by 7,929
TGF-β SIGNAL TRANSDUCTION
Massagué, J. (1998) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.67.1.753 · Cited by 7,571
Specificity of receptor tyrosine kinase signaling: Transient versus sustained extracellular signal-regulated kinase activation
Marshall, C. J. (1995) · Cell · doi:10.1016/0092-8674(95)90401-8 · Cited by 3,906
Cell Signaling by Receptor Tyrosine Kinases
Schlessinger, J. (2000) · Cell · doi:10.1016/s0092-8674(00)00114-8 · Cited by 3,774
FGF-21 as a novel metabolic regulator
Kharitonenkov, A., Shiyanova, T. L., Koester, A., Ford, A. M., Micanovic, R., Galbreath, E. J., Sandusky, G. E., Hammond, L. J., Moyers, J. S., Owens, R. A., et al. (2005) · Journal of Clinical Investigation · doi:10.1172/jci23606 · Cited by 2,125
Cellular signaling by fibroblast growth factor receptors
Eswarakumar, V. P., Lax, I., & Schlessinger, J. (2005) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2005.01.001 · Cited by 1,923
Receptor Specificity of the Fibroblast Growth Factor Family
Ornitz, D. M., Xu, J., Colvin, J. S., McEwen, D. G., MacArthur, C. A., Coulier, F., Gao, G., & Goldfarb, M. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.25.15292 · Cited by 1,871
Fibroblast growth factor 15 functions as an enterohepatic signal to regulate bile acid homeostasis
Inagaki, T., Choi, M., Moschetta, A., Peng, L., Cummins, C. L., McDonald, J. G., Luo, G., Jones, S. A., Goodwin, B., Richardson, J. A., et al. (2005) · Cell Metabolism · doi:10.1016/j.cmet.2005.09.001 · Cited by 1,865
Order Out of Chaos: Assembly of Ligand Binding Sites in Heparan Sulfate
Esko, J. D., & Selleck, S. B. (2002) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.71.110601.135458 · Cited by 1,495
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
Shiang, R., Thompson, L. M., Zhu, Y., Church, D. M., Fielder, T. J., Bocian, M. E., Winokur, S. T., & Wasmuth, J. J. (1994) · Cell · doi:10.1016/0092-8674(94)90302-6 · Cited by 1,329
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
Vissers, L. E. L. M., van Ravenswaaij‐Arts, C. M. A., Admiraal, R. J. C., Hurst, J. A., Vries, B. B. A. D., Janssen, I. M., van der Vliet, W. A., Huys, E., de Jong, P. J., Hamel, B. C. J., et al. (2004) · Nature Genetics · doi:10.1038/ng1407 · Cited by 1,281
Crystal Structure of a Ternary FGF-FGFR-Heparin Complex Reveals a Dual Role for Heparin in FGFR Binding and Dimerization
Schlessinger, J., Plotnikov, A. N., Ibrahimi, O. A., Eliseenkova, A. V., Yeh, B. K., Yayon, A., Linhardt, R. J., & Mohammadi, M. (2000) · Molecular Cell · doi:10.1016/s1097-2765(00)00073-3 · Cited by 1,199
Receptor Specificity of the Fibroblast Growth Factor Family
Zhang, X., Ibrahimi, O. A., Olsen, S. K., Umemori, H., Mohammadi, M., & Ornitz, D. M. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m601252200 · Cited by 1,164
An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination
Meyers, E., Lewandoski, M., & Martin, G. (1998) · Nature Genetics · doi:10.1038/ng0298-136 · Cited by 1,126
Evolution of the Fgf and Fgfr gene families.
Itoh, N., & Ornitz, D. (2004) · Trends in Genetics · doi:10.1016/j.tig.2004.08.007 · Cited by 1,123
Origin of luteinizing hormone-releasing hormone neurons
Schwanzel-Fukuda, M., & Pfaff, D. W. (1989) · Nature · doi:10.1038/338161a0 · Cited by 1,116
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
Wilkie, A. O. M., Slaney, S. F., Oldridge, M., Poole, M. D., Ashworth, G. J., Hockley, A. D., Hayward, R. D., David, D. J., Pulleyn, L. J., Rutland, P., et al. (1995) · Nature Genetics · doi:10.1038/ng0295-165 · Cited by 935
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Pelet, A., Rozet, J., Maroteaux, P., Merrer, M. L., & Munnich, A. (1994) · Nature · doi:10.1038/371252a0 · Cited by 920
A lipid-anchored Grb2-binding protein that links FGF-receptor activation to the Ras/MAPK signaling pathway.
Kouhara, H., Hadari, Y., Spivak-Kroizman, T., Schilling, J., Bar-Sagi, D., Lax, I., & Schlessinger, J. (1997) · Cell · doi:10.1016/s0092-8674(00)80252-4 · Cited by 908
Sustained activation of the mitogen-activated protein (MAP) kinase cascade may be required for differentiation of PC12 cells. Comparison of the effects of nerve growth factor and epidermal growth factor
Traverse, S., Gómez, N., Paterson, H., Marshall, C. J., & Cohen, P. (1992) · Biochemical Journal · doi:10.1042/bj2880351 · Cited by 874
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
Franco, B., Guioli, S., Pragliola, A., Incerti, B., Bardoni, B., Tonlorenzi, R., Carrozzo, R., Maestrini, E., Pieretti, M., Taillon-Miller, P., et al. (1991) · Nature · doi:10.1038/353529a0 · Cited by 846
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
Pagon, R. A., Graham, J. M., Zonana, J., & Yong, S. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80454-4 · Cited by 841
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
Dodé, C., Levilliers, J., Dupont, J., Paepe, A. D., Dû, N. L., Soussi‐Yanicostas, N., Coimbra, R. S., Delmaghani, S., Nouaille, S., Baverel, F., et al. (2003) · Nature Genetics · doi:10.1038/ng1122 · Cited by 839
Localisation of a fibroblast growth factor and its effect alone and with hydrocortisone on 3T3 cell growth
Gospodarowicz, D. (1974) · Nature · doi:10.1038/249123a0 · Cited by 788
fgfr-1 is required for embryonic growth and mesodermal patterning during mouse gastrulation.Preprint
Yamaguchi, T. P., Harpal, K., Henkemeyer, M. J., & Rossant, J. (1994) · Genes & Development · doi:10.1101/gad.8.24.3032 · Cited by 776
Murine FGFR-1 is required for early postimplantation growth and axial organization.Preprint
Deng, C.-X., Wynshaw-Boris, A., Shen, M. M., Daugherty, C., Ornitz, D., & Leder, P. (1994) · Genes & Development · doi:10.1101/gad.8.24.3045 · Cited by 775
Mendelian Inheritance in Man
McKusick, V. A. (1998) · Johns Hopkins University Press eBooks · doi:10.56021/9780801857423 · Cited by 762
Structural basis for fibroblast growth factor receptor activation
Mohammadi, M., Olsen, S. K., & Ibrahimi, O. A. (2005) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2005.01.008 · Cited by 761
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
Reardon, W., Winter, R., Rutland, P., Pulleyn, L., Jones, B., & Malcolm, S. (1994) · Nature Genetics · doi:10.1038/ng0994-98 · Cited by 746
Evidence that cells expressing luteinizing hormone-releasing hormone mRNA in the mouse are derived from progenitor cells in the olfactory placode.
Wray, S., Grant, P. G., & Gainer, H. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.20.8132 · Cited by 722
Prokineticin 2 transmits the behavioural circadian rhythm of the suprachiasmatic nucleus
Cheng, M. Y., Bullock, C. M., Li, C., Lee, A. G., Bermak, J. C., Belluzzi, J., Weaver, D. R., Leslie, F. M., & Zhou, Q.-Y. (2002) · Nature · doi:10.1038/417405a · Cited by 715
Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin
Pellegrini, L., Burke, D. F., von Delft, F., Mulloy, B., & Blundell, T. L. (2000) · Nature · doi:10.1038/35039551 · Cited by 704
Mechanisms underlying differential responses to FGF signaling.
Dailey, L., Ambrosetti, D., Mansukhani, A., & Basilico, C. (2005) · Cytokine & growth factor reviews · doi:10.1016/j.cytogfr.2005.01.007 · Cited by 701
Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders
McKusick, V. A. (1998) · DigitalGeorgetown (Georgetown University Library) · Cited by 681
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
Legouis, R., Hardelin, J.-P., Levilliers, J., Claverie, J.-M., Compain, S., Wunderle, V., Millasseau, P., Le Paslier, D., Cohen, D., & Caterina, D. (1991) · Cell · doi:10.1016/0092-8674(91)90193-3 · Cited by 678
The genetic aspects of primary eunuchoidism
Kallmann, F. J. (1944) · Medical Entomology and Zoology · Cited by 653
Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome
Schwanzel-Fukuda, M., Bick, D., & Pfaff, D. W. (1989) · Molecular Brain Research · doi:10.1016/0169-328x(89)90076-4 · Cited by 616
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-269 · Cited by 614
Sprouty1 and Sprouty2 provide a control mechanism for the Ras/MAPK signalling pathway
Hanafusa, H., Torii, S., Yasunaga, T., & Nishida, E. (2002) · Nature Cell Biology · doi:10.1038/ncb867 · Cited by 566
Developmental Localization of the Splicing Alternatives of Fibroblast Growth Factor Receptor-2 (FGFR2)
Orr‐Urtreger, A., Bedford, M. T., Burakova, T., Arman, E., Zimmer, Y., Yayon, A., Givol, D., & Lonai, P. (1993) · Developmental Biology · doi:10.1006/dbio.1993.1205 · Cited by 547
The Physiology of Gonadotropin-Releasing Hormone (GnRH) Secretion in Men and Women
Crowley, W. F., Filicori, M., Spratt, D. I., & Santoro, N. F. (1985) · Elsevier eBooks · doi:10.1016/b978-0-12-571141-8.50015-9 · Cited by 485
Dally cooperates with Drosophila Frizzled 2 to transduce Wingless signalling
Lin, X., & Perrimon, N. (1999) · Nature · doi:10.1038/22343 · Cited by 475
Sprouty, an intracellular inhibitor of Ras signaling
Casci, T., Vinós, J., & Freeman, M. (1999) · Cell · doi:10.1016/s0092-8674(00)80576-0 · Cited by 467
Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2
Dodé, C., Teixeira, L., Levilliers, J., Fouveaut, C., Bouchard, P., Kottler, M.-L., Lespinasse, J., Lienhardt-Roussie, A., Mathieu, M., Moerman, A., et al. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020175 · Cited by 457
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
Jabs, E., Li, X., Scott, A., Meyers, G., Chen, W. T., Eccles, M., Mao, J., Charnas, L., Jackson, C., & Jaye, M. (1994) · Nature Genetics · doi:10.1038/ng1194-275 · Cited by 452
Mammalian Brain Morphogenesis and Midline Axon Guidance Require Heparan Sulfate
Inatani, M., Irie, F., Plump, A. S., Tessier-Lavigne, M., & Yamaguchi, Y. (2003) · Science · doi:10.1126/science.1090497 · Cited by 431
Point mutation in FGF receptor eliminates phosphatidylinositol hydrolysis without affecting mitogenesis
Mohammadi, M., Dionne, C. A., Li, W., Li, N., Spivak-Kroizman, T. R., Honegger, A., Jaye, M., & Schlessinger, J. (1992) · Nature · doi:10.1038/358681a0 · Cited by 424
Gonadotropin-Releasing Hormone Deficiency in the Human (Idiopathic Hypogonadotropic Hypogonadism and Kallmann's Syndrome): Pathophysiological and Genetic Considerations
Seminara, S. B., Hayes, F. J., & Crowley, W. F. (1998) · Endocrine Reviews · doi:10.1210/edrv.19.5.0344 · Cited by 419
Fibroblast growth factors and their receptors in the central nervous system
Reuß, B., & Halbach, O. V. B. U. (2003) · Cell and Tissue Research · doi:10.1007/s00441-003-0756-7 · Cited by 417
Crystal Structures of Two FGF-FGFR Complexes Reveal the Determinants of Ligand-Receptor Specificity
Plotnikov, A. N., Hubbard, S. R., Schlessinger, J., & Mohammadi, M. (2000) · Cell · doi:10.1016/s0092-8674(00)80851-x · Cited by 408
Fibroblast growth factor signaling in tumorigenesis
Grose, R. P., & Dickson, C. (2005) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2005.01.003 · Cited by 404
Identification of Six Novel Autophosphorylation Sites on Fibroblast Growth Factor Receptor 1 and Elucidation of Their Importance in Receptor Activation and Signal Transduction
Mohammadi, M., Dikic, I., Sorokin, A., Burgess, W. H., Jaye, M., & Schlessinger, J. (1996) · Molecular and Cellular Biology · doi:10.1128/mcb.16.3.977 · Cited by 386
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
Pitteloud, N., Quinton, R., Pearce, S., Raivio, T., Acierno, J., Dwyer, A., Plummer, L., Hughes, V., Seminara, S., Cheng, Y.-Z., et al. (2007) · Journal of Clinical Investigation · doi:10.1172/jci29884 · Cited by 379
Self-citation
FRS2 Proteins Recruit Intracellular Signaling Pathways by Binding to Diverse Targets on Fibroblast Growth Factor and Nerve Growth Factor Receptors
Ong, S., Guy, G., Hadari, Y., Laks, S., Gotoh, N., Schlessinger, J., & Lax, I. (2000) · Molecular and Cellular Biology · doi:10.1128/mcb.20.3.979-989.2000 · Cited by 373
Structure and biological interactions of heparin and heparan sulfate
Casu, B., & Lindahl, U. (2001) · Advances in carbohydrate chemistry and biochemistry · doi:10.1016/s0065-2318(01)57017-1 · Cited by 372
Dependence of Olfactory Bulb Neurogenesis on Prokineticin 2 Signaling
Ng, K., Li, J., Cheng, M., Leslie, F. M., Lee, A. G., & Zhou, Q. (2005) · Science · doi:10.1126/science.1112103 · Cited by 332
Spatiotemporal cell expression of luteinizing hormone-releasing hormone in the prenatal mouse: evidence for an embryonic origin in the olfactory placode
Wray, S., Nieburgs, A., & Elkabes, S. (1989) · Developmental Brain Research · doi:10.1016/0165-3806(89)90295-2 · Cited by 329
ERK induces p35, a neuron-specific activator of Cdk5, through induction of Egr1
Harada, T., Morooka, T., Ogawa, S., & Nishida, E. (2001) · Nature Cell Biology · doi:10.1038/35074516 · Cited by 322
X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCY
Shapiro, L. J., Weiss, R., WEBSTER, D. R., & France, J. T. (1978) · The Lancet · doi:10.1016/s0140-6736(78)90005-3 · Cited by 321
Identification of Sef, a novel modulator of FGF signalling
Tsang, M., Friesel, R., Kudoh, T., & Dawid, I. B. (2002) · Nature Cell Biology · doi:10.1038/ncb749 · Cited by 304
Promotion and Attenuation of FGF Signaling Through the Ras-MAPK Pathway
Tsang, M., & Dawid, I. (2004) · Science's STKE · doi:10.1126/stke.2282004pe17 · Cited by 287
Zebrafish pea3 and erm are general targets of FGF8 signaling.
Roehl, H. H., & Nüsslein-Volhard, C. (2001) · Current Biology · doi:10.1016/s0960-9822(01)00143-9 · Cited by 285
Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2
Matsumoto, S.-I., Yamazaki, C., Masumoto, K.-H., Nagano, M., Naito, M., Soga, T., Hiyama, H., Matsumoto, M., Takasaki, J., Kamohara, M., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0508881103 · Cited by 281
Psychopathia Sexualis
Ewell, M. D., von Krafft-Ebing, R., & Chaddock, C. G. (1893) · The American Law Register and Review · doi:10.2307/3306113 · Cited by 268
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
Yu, K., Herr, A., Waksman, G., & Ornitz, D. (2000) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.97.26.14536 · Cited by 266
Structural Basis for a Direct Interaction between FGFR1 and NCAM and Evidence for a Regulatory Role of ATP
Kiselyov, V. V., Skladchikova, G., Hinsby, A. M., Jensen, P. H., Kulahin, N., Soroka, V., Pedersen, N. M., Tsetlin, V. I., Poulsen, F. M., Berezin, V., et al. (2003) · Structure · doi:10.1016/s0969-2126(03)00096-0 · Cited by 265
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
Ballabio, A., Bardoni, B., Carrozzo, R., Andria, G., Bick, D. P., Campbell, L., Hamel, B. C. J., Ferguson-Smith, M. A., Gimelli, G., & Fraccaro, M. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.24.10001 · Cited by 263
Differential Sulfations and Epimerization Define Heparan Sulfate Specificity in Nervous System Development
Bülow, H. E., & Hobert, O. (2004) · Neuron · doi:10.1016/s0896-6273(04)00084-4 · Cited by 262
Autophosphorylation of FGFR1 kinase is mediated by a sequential and precisely ordered reaction.
Furdui, C., Lew, E., Schlessinger, J., & Anderson, K. (2006) · Molecules and Cells · doi:10.1016/j.molcel.2006.01.022 · Cited by 259
Cloning and functional characterization of early B-cell factor, a regulator of lymphocyte-specific gene expression.Preprint
Hagman, J. R., Bélanger, C., Travis, A., Turck, C. W., & Grosschedl, R. (1993) · Genes & Development · doi:10.1101/gad.7.5.760 · Cited by 259
Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations
Wilkie, A. O. M. (2005) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2005.03.001 · Cited by 256
Mammalian Sprouty4 suppresses Ras-independent ERK activation by binding to Raf1
Sasaki, A. T., Taketomi, T., Kato, R., Saeki, K., Nonami, A., Sasaki, M., Kuriyama, M., Saito, N., Shibuya, M., & Yoshimura, A. (2003) · Nature Cell Biology · doi:10.1038/ncb978 · Cited by 252
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism
Pitteloud, N., Acierno, J. S., Meysing, A., Eliseenkova, A. V., Ma, J., Ibrahimi, O. A., Metzger, D. L., Hayes, F. J., Dwyer, A. A., Hughes, V. A., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0600962103 · Cited by 242
Somatotropic and Gonadotropic Axes Linkages in Infancy, Childhood, and the Puberty-Adult Transition
Veldhuis, J. D., Roemmich, J. N., Richmond, E. J., & Bowers, C. Y. (2006) · Endocrine Reviews · doi:10.1210/er.2005-0006 · Cited by 236
Ace/Fgf8 is required for forebrain commissure formation and patterning of the telencephalon
Shanmugalingam, S., Houart, C., Picker, A., Reifers, F., MacDonald, R. E., Barth, A., Griffin, K. J. P., Brand, M., & Wilson, S. W. (2000) · Development · doi:10.1242/dev.127.12.2549 · Cited by 233
Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization*
Quinton, R., Duke, V. M., Robertson, A., Kirk, J. M. W., Matfin, G., de Zoysa, P. A., Azcona, C., MacColl, G., Jacobs, H. S., Conway, G. S., et al. (2001) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2001.01277.x · Cited by 230
Self-citation
Co-regulation of the mitogen-activated protein kinase, extracellular signal-regulated kinase 1, and the 90-kDa ribosomal S6 kinase in PC12 cells. Distinct effects of the neurotrophic factor, nerve growth factor, and the mitogenic factor, epidermal growth factor
Nguyen, T. T. H., Scimeca, J., Filloux, C., Peraldi, P., Carpentier, J. L., & OBBERGHEN, E. V. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)98418-8 · Cited by 222
Mutations in different components of FGF signaling in LADD syndrome
Rohmann, E., Brunner, H., Kayserili, H., Uyguner, O., Nürnberg, G., Lew, E., Dobbie, A., Eswarakumar, V. P., Uzumcu, A., Ulubil-Emeroglu, M., et al. (2006) · Nature Genetics · doi:10.1038/ng1757 · Cited by 222
Opposite phenotypes of hypomorphic and Y766 phosphorylation site mutations reveal a function for Fgfr1 in anteroposterior patterning of mouse embryosPreprint
Partanen, J. M., Schwartz, L., & Rossant, J. (1998) · Genes & Development · doi:10.1101/gad.12.15.2332 · Cited by 222
Clinical Assessment and Mutation Analysis of Kallmann Syndrome 1 (KAL1) and Fibroblast Growth Factor Receptor 1 (FGFR1, orKAL2) in Five Families and 18 Sporadic Patients
Sato, N. S., Katsumata, N., Kagami, M., Hasegawa, T., Hori, N., KAWAKITA, S., Minowada, S., Shimotsuka, A., Shishiba, Y., Yokozawa, M., et al. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030476 · Cited by 216
FGF signaling through FGFR1 is required for olfactory bulb morphogenesis
Hébert, J. M., Lin, M., Partanen, J. M., Rossant, J., & McConnell, S. K. (2003) · Development · doi:10.1242/dev.00334 · Cited by 213
The Importance of Autosomal Genes in Kallmann Syndrome: Genotype-Phenotype Correlations and Neuroendocrine Characteristics
Oliveira, L. M. B., Seminara, S. B., Beranova, M., Hayes, F. J., Valkenburgh, S. B., Schipani, E., Costa, E. M. F., Latronico, A. C., Crowley, W. F., & Vallejo, M. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.4.7420 · Cited by 210
Anosmin-1, Defective in the X-Linked Form of Kallmann Syndrome, Promotes Axonal Branch Formation from Olfactory Bulb Output Neurons
Soussi‐Yanicostas, N., de Castro, F., Julliard, A., Perfettini, I., Chédotal, A., & Petit, C. (2002) · Cell · doi:10.1016/s0092-8674(02)00713-4 · Cited by 210
Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity.
Olsen, S., Ibrahimi, O., Raucci, A., Zhang, F.-M., Eliseenkova, A. V., Yayon, A., Basilico, C., Linhardt, R., Schlessinger, J., & Mohammadi, M. (2004) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.0307287101 · Cited by 209
FRS2α attenuates FGF receptor signaling by Grb2- mediated recruitment of the ubiquitin ligase Cbl
Wong, A., Lamothe, B., Lee, A., Schlessinger, J., & Lax, I. (2002) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.052138899 · Cited by 204
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome
Hardelin, J.-P., Levilliers, J., Blanchard, S., Carel, J.-C., Leutenegger, M., Pinard-Bertelletto, J.-P., Bouloux, P., & Petit, C. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.4.373 · Cited by 203
Self-citation
The endocrine-gland-derived VEGF homologue Bv8 promotes angiogenesis in the testis: Localization of Bv8 receptors to endothelial cells
LeCouter, J. E., Lin, R., Tejada, M. L., Frantz, G. D., Peale, F. V., Jr., Hillan, K. J., & Ferrara, N. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0337667100 · Cited by 202
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes
Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, F., Seminara, S., et al. (2006) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.04.021 · Cited by 198
Self-citation
Kinetic Model for FGF, FGFR, and Proteoglycan Signal Transduction Complex Assembly
Ibrahimi, O. A., Zhang, F., Hrstka, S., Mohammadi, M., & Linhardt, R. J. (2004) · Biochemistry · doi:10.1021/bi0352320 · Cited by 193
Fibroblast growth factor receptor signalling is dictated by specific heparan sulphate saccharides
Guimond, S. E., & Turnbull, J. E. (1999) · Current Biology · doi:10.1016/s0960-9822(00)80060-3 · Cited by 191
Spatial and temporal expression of heparan sulfate in mouse development regulates FGF and FGF receptor assembly
Allen, B. L., & Rapraeger, A. C. (2003) · The Journal of Cell Biology · doi:10.1083/jcb.200307053 · Cited by 191
X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.
Hardelin, J., Levilliers, J., del Castillo, I., Cohen‐Salmon, M., Legouis, R., Blanchard, S., Compain, S., Bouloux, P. M., Kirk, J. M. W., & Moraine, C. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.17.8190 · Cited by 189
Self-citation
Genesis of olfactory receptor neurons in vitro: Regulation of progenitor cell divisions by fibroblast growth factors
DeHamer, M. K., Guevara, J. L., Hannon, K., Olwin, B. B., & Calof, A. L. (1994) · Neuron · doi:10.1016/0896-6273(94)90047-7 · Cited by 189
Negative feedback regulation of FGF signaling levels by Pyst1/MKP3 in chick embryos.
Eblaghie, M. C., Lunn, J., Dickinson, R. J., Münsterberg, A., Sanz-Ezquerro, J., Farrell, E. R., Mathers, J., Keyse, S., Storey, K., & Tickle, C. (2003) · Current Biology · doi:10.1016/s0960-9822(03)00381-6 · Cited by 184
Ontogeny of Gonadotropin-Releasing Hormone-Containing Neurons in Early Fetal Development of Rhesus Macaques*
Rønnekleiv, O. K., & Resko, J. A. (1990) · Endocrinology · doi:10.1210/endo-126-1-498 · Cited by 183
Structural Modification of Fibroblast Growth Factor-binding Heparan Sulfate at a Determinative Stage of Neural Development
Brickman, Y. G., Ford, M. D., Gallagher, J. T., Nurcombe, V., Bartlett, P. F., & Turnbull, J. E. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.8.4350 · Cited by 182
The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis.
Quinton, R., Duke, V. M., de Zoysa, P. A., Platts, A., Valentine, A. R., Kendall, B. E., Pickman, S., Kirk, J. M. W., BESSER, G. M., Jacobs, H. S., et al. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.8.8768867 · Cited by 181
Self-citation
Migration of luteinizing hormone?releasing hormone (LHRH) neurons in early human embryos
Schwanzel‐Fukuda, M., Crossin, K. L., Pfaff, D. W., Bouloux, P. M., Hardelin, J., & Petit, C. (1996) · The Journal of Comparative Neurology · doi:10.1002/(sici)1096-9861(19960311)366:3 · Cited by 176
Self-citation
Intragenic Deletion of theKALIG-1Gene in Kallmann's Syndrome
Bick, D. P., Franco, B., Sherins, R. J., Heye, B., Pike, L. S., Crawford, J., Maddalena, A., Incerti, B., Pragliola, A., Meitinger, T., et al. (1992) · New England Journal of Medicine · doi:10.1056/nejm199206253262606 · Cited by 173
Syndrome of anosmia with hypogonadotropic hypogonadism (kallmann syndrome)
Lieblich, J. M., Rogol, A. D., White, B. J., & Rosen, S. W. (1982) · The American Journal of Medicine · doi:10.1016/0002-9343(82)90329-1 · Cited by 171
Gonadotropin-Releasing Hormone Deficiency in the Human (Idiopathic Hypogonadotropic Hypogonadism and Kallmann's Syndrome): Pathophysiological and Genetic Considerations
Seminara, S. B. (1998) · Endocrine Reviews · doi:10.1210/er.19.5.521 · Cited by 171
The transmembrane protein XFLRT3 forms a complex with FGF receptors and promotes FGF signalling
Böttcher, R. T., Pollet, N., Delius, H., & Niehrs, C. (2003) · Nature Cell Biology · doi:10.1038/ncb1082 · Cited by 170
Male Hypogonadotropic Hypogonadism
Whitcomb, R. W., & Crowley, W. F. (1993) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(18)30183-x · Cited by 166
The Docking Protein FRS2α Controls a MAP Kinase-Mediated Negative Feedback Mechanism for Signaling by FGF Receptors
Lax, I., Wong, A., Lamothe, B., Lee, A., Frost, A. S., Hawes, J. J., & Schlessinger, J. (2002) · Molecular Cell · doi:10.1016/s1097-2765(02)00689-5 · Cited by 166
Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1
Bülow, H. E., Berry, K. L., Haklai-Topper, L., Peles, E., & Hobert, O. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.092128099 · Cited by 164
Fgf8 expression defines a morphogenetic center required for olfactory neurogenesis and nasal cavity development in the mouse
Kawauchi, S., Shou, J., Santos, R., Hébert, J. M., McConnell, S. K., Mason, I. J., & Calof, A. L. (2005) · Development · doi:10.1242/dev.02143 · Cited by 163
The COE transcription factor Collier is a mediator of short-range Hedgehog-induced patterning of the Drosophila wing
Vervoort, M., Crozatier, M., Valle, D., & Vincent, A. (1999) · Current Biology · doi:10.1016/s0960-9822(99)80285-1 · Cited by 161
Reversible Kallmann Syndrome, Delayed Puberty, and Isolated Anosmia Occurring in a Single Family with a Mutation in the Fibroblast Growth Factor Receptor 1 Gene
Pitteloud, N., Acierno, J. S., Meysing, A. U., Dwyer, A. A., Hayes, F. J., & Crowley, W. F. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1361 · Cited by 160
Gene expression profile in the muscles of patients with inflammatory myopathies: effect of therapy with IVIg and biological validation of clinically relevant genes
Raju, R. P., & Dalakas, M. C. (2005) · Brain · doi:10.1093/brain/awh518 · Cited by 160
Alternately Spliced NH2-terminal Immunoglobulin-like Loop I in the Ectodomain of the Fibroblast Growth Factor (FGF) Receptor 1 Lowers Affinity for both Heparin and FGF-1(*)
Wang, F., Kan, M., Yan, G.-C., Xu, J.-M., & Mckeehan, W. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.17.10231 · Cited by 157
Anosmin-1 Modulates Fibroblast Growth Factor Receptor 1 Signaling in Human Gonadotropin-Releasing Hormone Olfactory Neuroblasts through a Heparan Sulfate-Dependent Mechanism
González-Martı́nez, D., Kim, S., Hu, Y., Guimond, S. E., Schofield, J. D., Winyard, P. J. D., Vannelli, G. B., Turnbull, J. E., & Bouloux, P.-M. G. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.3400-04.2004 · Cited by 153
Self-citation
CHARGE Syndrome Includes Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development
Pinto, G., Abadie, V., Mesnage, R., Blustajn, J., Cabrol, S., Amiel, J., Hertz‐Pannier, L., Bertrand, A.-M., Lyonnet, S., Rappaport, R., et al. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-2474 · Cited by 153
Fibroblast Growth Factor Receptor 1 Is Required for the Proliferation of Hippocampal Progenitor Cells and for Hippocampal Growth in Mouse
Ohkubo, Y., Uchida, A., Shin, D., Partanen, J. M., & Vaccarino, F. M. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.1140-04.2004 · Cited by 151
Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting
Rugarli, E. I., Lutz, B., Kuratani, S., Wawersik, S., Borsani, G., Ballabio, A., & Gregor Eichele, C. (1993) · Nature Genetics · doi:10.1038/ng0593-19 · Cited by 148
Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: Implications for the developmental anomalies of X chromosome-linked Kallmann syndrome
Hardelin, J., Julliard, A., Moniot, B., Soussi‐Yanicostas, N., Verney, C., Schwanzel‐Fukuda, M., Lièvre, C. A., & Petit, C. (1999) · Developmental Dynamics · doi:10.1002/(sici)1097-0177(199905)215:1 · Cited by 146
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1(KAL2): MUTATIONS IN BRIEF
Albuisson, J., Pêcheux, C., Carel, J.-C., Lacombe, D., Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., Matthijs, G., Wasniewska, M., et al. (2005) · Human Mutation · doi:10.1002/humu.9298 · Cited by 146
Effect of Purified Luteinizing Hormone Releasing Factor on Normal and Hypogonadotrophic Anosmic Men
Naftolin, F. N., Harris, G. W., & Bobrow, M. (1971) · Nature · doi:10.1038/232496a0 · Cited by 144
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)
Miura, K., Acierno, J. S., & Seminara, S. B. (2004) · Journal of Human Genetics · doi:10.1007/s10038-004-0137-4 · Cited by 140
The expression of tissue and urokinase-type plasminogen activators in neural development suggests different modes of proteolytic involvement in neuronal growth
Sumi, Y., Dent, M. A. R., OWEN, D. E., et al. (1992) · Development · doi:10.1242/dev.116.3.625 · Cited by 139
FGF23 and disorders of phosphate homeostasis.
Yu, X.-J., & White, K. (2005) · Cytokine & growth factor reviews · doi:10.1016/j.cytogfr.2005.01.002 · Cited by 138
Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neuronsPreprint
Kramer, P. R., & Wray, S. (2000) · Genes & Development · doi:10.1101/gad.14.14.1824 · Cited by 138
The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons
Cariboni, A. M., Pimpinelli, F., Colamarino, S. A., Zaninetti, R., Piccolella, M., Rumio, C., Piva, F., Rugarli, E. I., & Maggi, R. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh309 · Cited by 137
Forebrain Gonadotropin-Releasing Hormone Neuronal Development: Insights from Transgenic Medaka and the Relevance to X-Linked Kallmann Syndrome
Okubo, K., Sakai, F., Lau, E., Yoshizaki, G., Takeuchi, Y., Naruse, K., Aida, K., & Nagahama, Y. (2005) · Endocrinology · doi:10.1210/en.2005-0468 · Cited by 128
Autoinhibition Control
Schlessinger, J. (2003) · Science · doi:10.1126/science.1082024 · Cited by 121
Control of the migratory pathway of facial branchiomotor neurones
Garel, S., García‐Domínguez, M., & Charnay, P. (2000) · Development · doi:10.1242/dev.127.24.5297 · Cited by 120
Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system
Soussi‐Yanicostas, N., Hardelin, J., Jiménez, M. D. M. A., Ardouin, O., Legouis, R., Levilliers, J., Traincard, F., Betton, J., Cabanié, L., & Petit, C. (1996) · Journal of Cell Science · doi:10.1242/jcs.109.7.1749 · Cited by 118
Influence of the olfactory placode on the development of the brain in Xenopus laevis (Daudin)
Stout, R. P., & Graziadei, P. P. C. (1980) · Neuroscience · doi:10.1016/0306-4522(80)90134-7 · Cited by 116
Principles of organization of the vertebrate olfactory glomerulus: An hypothesis
Graziadei, P. P. C., & Graziadei, G. A. M. (1986) · Neuroscience · doi:10.1016/0306-4522(86)90119-3 · Cited by 109
OUTCOME OF GONADOTROPIN THERAPY FOR MALE HYPOGONADOTROPIC HYPOGONADISM AT UNIVERSITY AFFILIATED MALE INFERTILITY CENTERS: A 30-YEAR RETROSPECTIVE STUDY
Miyagawa, Y., Tsujimura, A., Matsumiya, K., Takao, T., Tohda, A., Koga, M., Takeyama, M., Fujioka, H., Takada, S., Koide, T., et al. (2005) · The Journal of Urology · doi:10.1097/01.ju.0000158133.09197.f4 · Cited by 109
Insights into the role of heparan sulphate in fibroblast growth factor signalling
Harmer, N. J. (2006) · Biochemical Society Transactions · doi:10.1042/bst0340442 · Cited by 108
Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner
Soussi‐Yanicostas, N., Faivre‐Sarrailh, C., Hardelin, J., Levilliers, J., Rougon, G., & Petit, C. (1998) · Journal of Cell Science · doi:10.1242/jcs.111.19.2953 · Cited by 108
Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia
Trarbach, E. B., Costa, E. M. F., Versiani, B. R., de Castro, M., Baptista, M. T. M., Garmes, H. M., Mendonca, B. B., & Latronico, A. C. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2793 · Cited by 107
Mechanisms of Disease: insights into X-linked and autosomal-dominant Kallmann syndrome
Tsai, P., & Gill, J. C. (2006) · Nature Clinical Practice Endocrinology & Metabolism · doi:10.1038/ncpendmet0119 · Cited by 107
Targeted Expression of a Dominant-Negative Fibroblast Growth Factor (FGF) Receptor in Gonadotropin-Releasing Hormone (GnRH) Neurons Reduces FGF Responsiveness and the Size of GnRH Neuronal Population
Tsai, P., Moenter, S. M., Postigo, H. R., Majdoubi, M. E., Pak, T. R., Gill, J. C., Paruthiyil, S., Werner, S., & Weiner, R. I. (2004) · Molecular Endocrinology · doi:10.1210/me.2004-0330 · Cited by 107
Pulsatile and Sexually Dimorphic Secretion of Luteinizing Hormone in the Human Infant on the Day of Birth
de Zegher, F., Devlieger, H., & Veldhuis, J. D. (1992) · Pediatric Research · doi:10.1203/00006450-199211000-00025 · Cited by 104
Molecular Pathogenesis of Kallmann’s Syndrome
Cadman, S. M., Kim, S., Hu, Y., González-Martı́nez, D., & Bouloux, P.-M. G. (2006) · Hormone Research in Paediatrics · doi:10.1159/000098156 · Cited by 102
Self-citation
Origin and development of GnRH neurons
Whitlock, K. E. (2005) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2005.03.005 · Cited by 101
Genetic Heterogeneity Evidenced by Low Incidence of KAL-1 Gene Mutations in Sporadic Cases of Gonadotropin-Releasing Hormone Deficiency1
Georgopoulos, N. A., Pralong, F. P., Seidman, C. E., Seidman, J. G., Crowley, W. F., & Vallejo, M. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.82.1.3692 · Cited by 101
Inherited disorders of the gonadotropin hormones
Achermann, J. C., Weiss, J., Lee, E. J., & Jameson, J. L. (2001) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(01)00474-9 · Cited by 101
Kallmann syndrome: towards molecular pathogenesis
Hardelin, J. (2001) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(01)00462-2 · Cited by 100
Hypogonadotropic hypogonadism and peripheral neuropathy inEbf2-null mice
Corradi, A. M., Croci, L., Broccoli, V., Zecchini, S., Previtali, S. C., Wurst, W., Amadio, S., Maggi, R., Quattrini, A., & Consalez, G. G. (2002) · Development · doi:10.1242/dev.00215 · Cited by 98
The Sprouty-related protein, Spred, inhibits cell motility, metastasis, and Rho-mediated actin reorganization
Miyoshi, K., Wakioka, T., Nishinakamura, H., Kamio, M., Yang, L., Inoue, M., Hasegawa, M., Yonemitsu, Y., Komiya, S., & Yoshimura, A. (2004) · Oncogene · doi:10.1038/sj.onc.1207759 · Cited by 93
X Chromosome-Linked Kallmann Syndrome: Clinical Heterogeneity in Three Siblings Carrying an Intragenic Deletion of theKAL-1Gene
Massin, N., Pécheux, C., Eloit, C., et al. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021981 · Cited by 92
Kallmann syndrome: fibroblast growth factor signaling insufficiency?
Dod�, C., & Hardelin, J. (2004) · Journal of Molecular Medicine · doi:10.1007/s00109-004-0571-y · Cited by 92
Requirement for the Drosophila COE transcription factor Collier in formation of an embryonic muscle: transcriptional response to Notch signalling
Crozatier, M., & Vincent, A. (1999) · Development · doi:10.1242/dev.126.7.1495 · Cited by 91
The Docking Protein Gab1 Is an Essential Component of an Indirect Mechanism for Fibroblast Growth Factor Stimulation of the Phosphatidylinositol 3-Kinase/Akt Antiapoptotic Pathway
Lamothe, B., Yamada, M., Schaeper, U., Birchmeier, W., Lax, I., & Schlessinger, J. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.13.5657-5666.2004 · Cited by 90
Anosmin-1 modulates the FGF-2-dependent migration of oligodendrocyte precursors in the developing optic nerve
Bribián, A., Barallobre, M. J., Soussi‐Yanicostas, N., & de Castro, F. (2006) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2006.05.009 · Cited by 87
The Kallmann syndrome gene homolog inC. elegansis involved in epidermal morphogenesis and neurite branching
Rugarli, E. I., Schiavi, E. D., Hilliard, M. A., Arbucci, S., Ghezzi, C., Facciolli, A., Coppola, G., Ballabio, A., & Bazzicalupo, P. (2002) · Development · doi:10.1242/dev.129.5.1283 · Cited by 87
La dysplasie olfacto-g�nitale
GAUTHIER, G. F. (1960) · Journal of Neural Transmission · doi:10.1007/bf01228269 · Cited by 87
NovelFGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis
Dodé, C., Fouveaut, C., Mortier, G. R., Janssens, S., Bertherat, J. Y., MAHOUDEAU, J. A., Kottler, M., Chabrolle, C., Gancel, A., François, I., et al. (2006) · Human Mutation · doi:10.1002/humu.9470 · Cited by 86
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome
Ballabio, A., Parenti, G., Tippett, P., Mondello, C., Maio, S. D., Tenore, A., & Andria, G. (1986) · Human Genetics · doi:10.1007/bf00291885 · Cited by 86
MR imaging of Kallmann syndrome, a genetic disorder of neuronal migration affecting the olfactory and genital systems.
Truwit, C. L., Barkovich, A. J., Grumbach, M. M., et al. (1993) · PubMed · Cited by 84
Genetic Heterogeneity Evidenced by Low Incidence of KAL-1 Gene Mutations in Sporadic Cases of Gonadotropin-Releasing Hormone Deficiency
Georgopoulos, N. A. (1997) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.82.1.213 · Cited by 82
Developmental Regulation of Gonadotropin-Releasing Hormone Neurons by Fibroblast Growth Factor Signaling
Gill, J. C., Moenter, S. M., & Tsai, P.-S. (2004) · Endocrinology · doi:10.1210/en.2004-0214 · Cited by 81
The heparan sulfate proteoglycan agrin modulates neurite outgrowth mediated by FGF-2.
Kim, M. J., Cotman, S., Halfter, W., & Cole, G. (2003) · Journal of Neurobiology · doi:10.1002/neu.10213 · Cited by 80
C. elegans Kallmann syndrome protein KAL-1 interacts with syndecan and glypican to regulate neuronal cell migrations
Hudson, M. L., Kinnunen, T. K., Cinar, H. N., & Chisholm, A. D. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.02.036 · Cited by 80
A role for foxd3 and sox10 in the differentiation of gonadotropin-releasing hormone (GnRH) cells in the zebrafish Danio rerio
Whitlock, K. E., Smith, K. M., Kim, H. H., & Harden, M. V. (2005) · Development · doi:10.1242/dev.02158 · Cited by 76
Hypogonadotropic Hypogonadism
Silveira, L. F. G., MacCOLL, G. S., & Bouloux, P. M. (2002) · Seminars in Reproductive Medicine · doi:10.1055/s-2002-36707 · Cited by 76
Self-citation
FGFR-1 signaling is involved in spermiogenesis and sperm capacitation
Cotton, L. M., Gibbs, G. M., Sánchez-Partida, L. G., Morrison, J. R., de Kretser, D. M., & O’Bryan, M. K. (2005) · Journal of Cell Science · doi:10.1242/jcs.02704 · Cited by 74
Developmental aspect of the gonadotropin-releasing hormone system
Tobet, S. A., Bless, E. P., & Schwarting, G. A. (2001) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(01)00616-5 · Cited by 72
Neuroblast long-term cell cultures from human fetal olfactory epithelium respond to odors
Vannelli, G. B., Ensoli, F., Zonefrati, R., et al. (1995) · Journal of Neuroscience · doi:10.1523/jneurosci.15-06-04382.1995 · Cited by 70
The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis [published erratum appears in J Clin Endocrinol Metab 1996 Oct;81(10):3614]
Quinton, R. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.81.8.3010 · Cited by 70
Molecular Cloning and Expression of ps20 Growth Inhibitor
Larsen, M., Ressler, S. J., Lu, B., et al. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.8.4574 · Cited by 70
Expression and Function of Gonadotropin-releasing Hormone (GnRH) Receptor in Human Olfactory GnRH-secreting Neurons
Romanelli, R. G., Barni, T., Maggi, M., Luconi, M., Failli, P., Pezzatini, A., Pelo, E., Torricelli, F., Crescioli, C., Ferruzzi, P., et al. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m307955200 · Cited by 69
Kallmann Syndrome
MacCOLL, G. S., Bouloux, P. M., & Quinton, R. (2002) · Neuron · doi:10.1016/s0896-6273(02)00720-1 · Cited by 69
Self-citation
Cell Adhesion Molecules and the Migration of LHRH Neurons during Development
Norgren, R. B., & Brackenbury, R. W. (1993) · Developmental Biology · doi:10.1006/dbio.1993.1314 · Cited by 67
Brief Report
Bick, D. P., Franco, B., Sherins, R. J., Heye, B., Pike, L. S., CRAWFORD, J., Maddalena, A., Incerti, B., Pragliola, A., Meitinger, T., et al. (1992) · Obstetrical & Gynecological Survey · doi:10.1097/00006254-199211000-00021 · Cited by 67
Heterogeneity of Kallmann's syndrome
Hermanussen, M., & Sippell, W. G. (1985) · Clinical Genetics · doi:10.1111/j.1399-0004.1985.tb00368.x · Cited by 66
The neural cell adhesion molecule binds to fibroblast growth factor receptor 2
Christensen, C., Lauridsen, J. B., Berezin, V., Bock, E., & Kiselyov, V. V. (2006) · FEBS Letters · doi:10.1016/j.febslet.2006.05.008 · Cited by 66
Expression of the KAL gene in multiple neuronal sites during chicken development.
Legouis, R., Lièvre, C. A., Leibovici, M., Lapointe, F., & Petit, C. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.6.2461 · Cited by 66
Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann?s syndrome
González-Martı́nez, D., Hu, Y., & Bouloux, P. M. (2004) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2004.06.001 · Cited by 66
Self-citation
Bv8, the amphibian homologue of the mammalian prokineticins, modulates ingestive behaviour in rats
Negri, L., Lattanzi, R., Giannini, E., Felice, M. D., Colucci, A., & Melchiorri, P. (2004) · British Journal of Pharmacology · doi:10.1038/sj.bjp.0705686 · Cited by 65
Possible Regulation of FGF Activity by Syndecan, an Integral Membrane Heparan Sulfate Proteoglycana
Bernfield, M. R., & Hooper, K. C. (1991) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1991.tb49029.x · Cited by 63
Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1
Kim, H., Herrick, S. R., Lemyre, E., Kishikawa, S., Salisz, J. A., Seminara, S., MacDonald, M. E., Bruns, G. A. P., Morton, C. C., Quade, B. J., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.026989 · Cited by 62
Cross-talk of anosmin-1, the protein implicated in X-linked Kallmann's syndrome, with heparan sulphate and urokinase-type plasminogen activator
Hu, Y., González-Martínez, D. A., Kim, S., et al. (2004) · Biochemical Journal · doi:10.1042/bj20041078 · Cited by 60
Self-citation
The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component
Rugarli, E. I. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.8.1109 · Cited by 59
Median craioencephalic dysraphias and olfactogenital dysplasia.
MORSIER, G. D. (1962) · PubMed · Cited by 59
Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo
Lutz, B., Kuratani, S., Rugarli, E. I., et al. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.10.1717 · Cited by 58
Expression of a Dominant Negative FGF Receptor in Developing GNRH1 Neurons Disrupts Axon Outgrowth and Targeting to the Median Eminence1
Gill, J. C., & Tsai, P. (2005) · Biology of Reproduction · doi:10.1095/biolreprod.105.046904 · Cited by 57
Mechanisms of Disease: the first kiss—a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction
Seminara, S. B. (2006) · Nature Clinical Practice Endocrinology & Metabolism · doi:10.1038/ncpendmet0139 · Cited by 57
Etudes sur les Dysraphies crânio-encéphaliques
de Morsier, G. (2008) · Monatsschrift für Psychiatrie und Neurologie · doi:10.1159/000139754 · Cited by 56
Kallmann Syndrome and the Link between Olfactory and Reproductive Development
Rugarli, E. I. (1999) · The American Journal of Human Genetics · doi:10.1086/302600 · Cited by 55
Kallmann Syndrome Phenotype in a Female Patient with CHARGE Syndrome and CHD7 Mutation
Ogata, T., Fujiwara, I., Ogawa, E., et al. (2006) · Endocrine Journal · doi:10.1507/endocrj.k06-099 · Cited by 55
Kallmann syndrome: MR findings.
Knorr, J. R., Ragland, R. L., Brown, R. S., et al. (1993) · PubMed · Cited by 55
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)
Zénaty, D., Bretones, P., Lambe, C., et al. (2006) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.04.006 · Cited by 55
[Impuberism and hypogonadism at induction into military service. Statistical study].
Fromantin, M., Gineste, J., Didier, A., et al. (1973) · PubMed · Cited by 55
Olfacto-genital dysplasia in the female.
Jones, J. R., & Kemmann, E. (1976) · PubMed · Cited by 55
A Mutation in the Fibroblast Growth Factor Receptor 1 Gene Causes Fully Penetrant Normosmic Isolated Hypogonadotropic Hypogonadism
Xu, N., Yu, Q., Reindollar, R. H., et al. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1183 · Cited by 53
A Recurrent Missense Mutation in the KAL Gene in Patients with X-Linked Kallmann’s Syndrome1
Maya‐Núñez, G., Zenteno, J. C., Ulloa‐Aguirre, A., et al. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.5.4817 · Cited by 52
Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers
Conrad, B., Kriebel, J., & Hetzel, W. D. (1978) · Journal of Neurology · doi:10.1007/bf00312882 · Cited by 49
Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients
Trarbach, E. B., Baptista, M. T. M., Garmes, H. M., & Hackel, C. (2005) · Journal of Endocrinology · doi:10.1677/joe.1.06103 · Cited by 46
Klinefelter's syndrome in Sardinia
Filippi, G. (1986) · Clinical Genetics · doi:10.1111/j.1399-0004.1986.tb00607.x · Cited by 44
Characterization of the two zebrafish orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome
Ardouin, O., Legouis, R., Fasano, L., et al. (2000) · Mechanisms of Development · doi:10.1016/s0925-4773(99)00222-1 · Cited by 44
Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1
Robertson, A., MacColl, G., Nash, J. A. B., Boehm, M. K., Perkins, S. J., & Bouloux, P.-M. G. (2001) · Biochemical Journal · doi:10.1042/0264-6021:3570647 · Cited by 42
Self-citation
Identification of Three Novel Mutations in the KAL1 Gene in Patients with Kallmann Syndrome
Söderlund, D., Canto, P., & Méndez, J. P. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.6.8611 · Cited by 41
Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene
Maya‐Núñez, G., Cuevas‐Covarrubias, S. A., Zenteno, J. C., et al. (1998) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1998.00406.x · Cited by 40
Congenital Anosmia: Detection Thresholds for Seven Odorant Classes in Hypogonadal and Eugonadal Patients
Rosen, S. W., Gann, P. H., & Rogol, A. D. (1979) · Annals of Otology Rhinology & Laryngology · doi:10.1177/000348947908800223 · Cited by 40
Identical twins discordant for Kallmann's syndrome.
Hipkin, L. J., Casson, I. F., & Davis, J. (1990) · Journal of Medical Genetics · doi:10.1136/jmg.27.3.198 · Cited by 38
Abnormalities in visual spatial attention in men with mirror movements associated with isolated hypogonadotropic hypogonadism
Kertzman, C., Robinson, D. L., Sherins, R. J., Schwankhaus, J. D., & McClurkin, J. W. (1990) · Neurology · doi:10.1212/wnl.40.7.1057 · Cited by 37
The Physiological and Pathological Relations between the Nose and the Sexual Apparatus of Man
Mackenzie, J. N. (1898) · The Journal of Laryngology Rhinology and Otology · doi:10.1017/s1755146300166016 · Cited by 37

Research works printed but not linked: 4

Maestre de San Juan A, 1856, Falta total de los nerviosolfactorios con anosmia en un individuo en quien existia una atrofia congenita de los testiculos y miembro viril, Siglo Med, 131, 211
Geller J, 1992, People of the Body, 243
10.1210/jc.86.4.1532 · DOI
10.1002/humu.1998.11.4.340 · DOI

Sorted by citations

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
Bianco, S. D. C., & Kaiser, U. B. (2009) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2009.177 · Cited by 336
A genetic basis for functional hypothalamic amenorrhea
Caronia, L. M., Martin, C., Welt, C. K., Sykiotis, G. P., Quinton, R., Thambundit, A., Avbelj, M., Dhruvakumar, S., Plummer, L., Hughes, V. A., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa0911064 · Cited by 256

See all 87

Authors: Kim, S. ‐., Hu, Y., Cadman, S., & Bouloux, P.
Affiliations: The Royal Free Hospital (GB)
King's College London (GB)
ORCID: Kim, S.‐H.
Hu, Y.
Venue: Journal of Neuroendocrinology
Publisher: Wiley
Published: 2007-11-22
Volume: 20
Issue: 2
Pages: 141-163
ISSN: 0953-8194 (ISSN-L)
1365-2826
DOI: 10.1111/j.1365-2826.2007.01627.x
OpenAlex: W1546365424
Cited by: 87
References: 238
Citations by year: 2026: 3 · 2025: 4 · 2024: 2 · 2023: 5 · 2022: 3 · 2021: 4 · 2020: 5 · 2018: 3 · 2017: 4 · 2016: 5 · 2015: 3 · 2014: 3 · 2013: 6 · 2012: 6
FWCI: 1.14
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Journal of Neuroendocrinology (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
Topics: Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Fibroblast Growth Factor Research
Life Sciences › Neuroscience › Sensory Systems › Olfactory and Sensory Function Studies
Keywords: Kallmann syndrome, FGFR1, anosmin-1, KAL1, prokineticin 2, PROKR2, hypogonadotropic hypogonadism, GnRH neurons, olfactory bulb development, heparan sulfate, receptor signaling, polygenic inheritance
MeSH terms: Cell Movement, Gastrointestinal Hormones, Genotype, Heparan Sulfate, Humans, Gonadotropin-Releasing Hormone, Nerve Tissue Proteins, Neurons, Neuropeptides, Phenotype, Signal Transduction, Extracellular Matrix Proteins, Kallmann Syndrome, Receptors, Peptide, Receptors, G-Protein-Coupled, History, 19th Century, History, 20th Century, Receptor, Fibroblast Growth Factor, Type 1

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Diversity in Fibroblast Growth Factor Receptor 1 Regulation: Learning from the Investigation of Kallmann Syndrome

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks