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
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.
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“Mutations in the tyrosine kinase domain of FGFR-1 are predicted to decrease or inhibit kinase activity by disrupting receptor conformation (Ile538Val, Asn724Lys, and Gly703Arg) and/or altering the normal pattern of phosphorylation of the kinase domain (Ala520Thr, Gly703Ser, Pro722Ser, Pro745Ser, and Pro772Ser).”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [13]
In the citing paper
“Two mutations (Asn267Lys and Glu514Lys) are expected to enhance heparin binding, which compromises the flexibility of anosmin 1.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [13]
In the citing paper
“Less than 20% of the different mutations associated with Kallmann syndrome result in amino acid substitutions.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [13]
Citations
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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
Metadata
- Authors
- Kim, S. ‐., Hu, Y., Cadman, S., & Bouloux, P.
- Affiliations
- The Royal Free Hospital (GB)
- King's College London (GB)
- ORCID
- Venue
- Journal of Neuroendocrinology
- Publisher
- Wiley
- Published
- 2007-11-22
- Volume
- 20
- Issue
- 2
- Pages
- 141-163
- ISSN
- 0953-8194 (ISSN-L)
- 1365-2826
- 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
- 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
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