Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

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Molecular and Cellular Endocrinology

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Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1

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Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism

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Pituitary cell phenotypes involve cell-specific Pit-1 mRNA translation and synergistic interactions with other classes of transcription factors.Preprint

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Mutations in PROP1 cause familial combined pituitary hormone deficiency

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A Pituitary Cell-Restricted T Box Factor, Tpit, Activates POMC Transcription in Cooperation with Pitx Homeoproteins

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Genetic Regulation of Pituitary Gland Development in Human and Mouse

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LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons.

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Specification of Pituitary Cell Lineages by the LIM Homeobox Gene Lhx3

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Mutation of the POU-Specific Domain of Pit-1 and Hypopituitarism Without Pituitary Hypoplasia

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A Mutation in the POU-Homeodomain of Pit-1 Responsible for Combined Pituitary Hormone Deficiency

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Laron Syndrome (Primary Growth Hormone Resistance or Insensitivity): The Personal Experience 1958–2003

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Multistep Control of Pituitary Organogenesis

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Molecular Physiology of Pituitary Development: Signaling and Transcriptional Networks

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Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

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LIM Factor Lhx3 Contributes to the Specification of Motor Neuron and Interneuron Identity through Cell-Type-Specific Protein-Protein Interactions

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Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

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Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

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Reciprocal Interactions of Pit1 and GATA2 Mediate Signaling Gradient–Induced Determination of Pituitary Cell Types

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Obesity Due to Proopiomelanocortin Deficiency: Three New Cases and Treatment Trials with Thyroid Hormone and ACTH4–10

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Homeodomain-Mediated β-Catenin-Dependent Switching Events Dictate Cell-Lineage Determination

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Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

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A POMC variant implicates β-melanocyte-stimulating hormone in the control of human energy balance

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Phenotypic Variability in Familial Combined Pituitary Hormone Deficiency Caused by a PROP1 Gene Mutation Resulting in the Substitution of Arg->Cys at Codon 120 (R120C)

Flück, C. E., Deladoëy, J., Rutishauser, K., Eblé, A., Marti, U., Wu, W., & Mullis, P. E. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.10.5172 · Cited by 209

The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency1

Cogan, J. D., Wu, W., Phillips, J. A., Arnhold, I. J. P., Agapito, A. F., Fofanova, O. V., Osório, M. G. F., Bircan, İ., Moreno, A., & Mendonca, B. B. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.9.5142 · Cited by 189

“Hot Spot” in the PROP1 Gene Responsible for Combined Pituitary Hormone Deficiency1

Deladoëy, J., Flück, C. E., Büyükgebiz, A., Kuhlmann, B. V., Eblé, A., Hindmarsh, P. C., Wu, W., & Mullis, P. E. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.5.5681 · Cited by 185

Pituitary ontogeny of the Snell dwarf mouse reveals Pit-1-independent and Pit-1-dependent origins of the thyrotrope

Lin, S., Li, S., Drolet, D. W., & Rosenfeld, M. G. (1994) · Development · doi:10.1242/dev.120.3.515 · Cited by 184

Role of PROP1 in Pituitary Gland Growth

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Heritable Disorders of Pituitary Development1

Parks, J. S., Brown, M. R., Hurley, D. L., Phelps, C. J., & Wajnrajch, M. P. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.12.6209 · Cited by 175

Mutations in the PIT-1 gene in children with combined pituitary hormone deficiency

Ohta, K., Nobukuni, Y., Mitsubuchi, H., Fujimoto, S., Matsuo, N., Inagaki, H., Endo, F., & Matsuda, I. (1992) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(92)92281-2 · Cited by 174

Lhx4andProp1are required for cell survival and expansion of the pituitary primordia

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"Hot Spot" in the PROP1 Gene Responsible for Combined Pituitary Hormone Deficiency

Deladoëy, J. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.84.5.1645 · Cited by 162

Expression of LHX3 and SOX2 during mouse inner ear development

Hume, C. R., Bratt, D., & Oesterle, E. C. (2007) · Gene Expression Patterns · doi:10.1016/j.modgep.2007.05.002 · Cited by 155

Genetic Screening of Combined Pituitary Hormone Deficiency: Experience in 195 Patients

Reynaud, R., Gueydan, M., Saveanu, A., Vallette-Kasic, S., Enjalbert, A., Brue, T. C., & Barlier, A. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2173 · Cited by 150

The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency

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PROP1Mutations Cause Progressive Deterioration of Anterior Pituitary Function including Adrenal Insufficiency: A Longitudinal Analysis

Böttner, A., Keller, E., Kratzsch, J., Stobbe, H., Weigel, J. F. W., Keller, A., Hirsch, W., Kieß, W., Blum, W. F., & Pfäffle, R. W. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-0661 · Cited by 141

Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency

Turton, J. P. G., Reynaud, R., Mehta, A., Torpiano, J. G., Saveanu, A., Woods‐Townsend, K., Tiulpakov, A. N., Zdravković, V., Hamilton, J., Attard-Montalto, S., et al. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-0570 · Cited by 134

Impaired Adrenocorticotropin-Adrenal Axis in Combined Pituitary Hormone Deficiency Caused by a Two-Base Pair Deletion (301–302delAG) in the Prophet of Pit-1 Gene1

Pernasetti, F. M., Toledo, S. P. A., Vasilyev, V. V., Hayashida, C. Y., Cogan, J. D., Ferrari, C., Lourenço, D. M., & Mellon, P. L. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.1.6324 · Cited by 132

Compound Heterozygous Deletion of the PROP-1 Gene in Children with Combined Pituitary Hormone Deficiency

Fofanova, Q., Takamura, N., Kinoshita, E., Parks, J. S., Brown, M. R., Peterkova, V. A., Evgrafov, O. V., Гончаров, Н. П., Булатов, А. А., Dedov, I. I., et al. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.7.5094 · Cited by 132

Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

França, M. M., Jorge, A. A. L., Carvalho, L. R. S., Costalonga, E. F., Vasques, G. A., Leite, C. C., Mendonca, B. B., & Arnhold, I. J. P. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-1050 · Cited by 129

Transcriptional control during mammalian anterior pituitary development

Savage, J. J., Yaden, B. C., Kiratipranon, P., & Rhodes, S. J. (2003) · Gene · doi:10.1016/s0378-1119(03)00804-7 · Cited by 127

Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained byTPITGene Mutations

Vallette-Kasic, S., Brue, T. C., Pulichino, A.-M., Gueydan, M., Barlier, A., David, M., Nicolino, M. P., Malpuech, G., Déchelotte, P., Deal, C., et al. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1300 · Cited by 125

Gsh‐4 encodes a LIM‐type homeodomain, is expressed in the developing central nervous system and is required for early postnatal survival.

Li, H., Witte, D. P., Branford, W. W., Aronow, B. J., Weinstein, M. B., Kaur, S., Wert, S. E., Singh, G., Schreiner, C. M., & Whitsett, J. A. (1994) · The EMBO Journal · doi:10.1002/j.1460-2075.1994.tb06582.x · Cited by 124

Four Novel Mutations of the LHX3 Gene Cause Combined Pituitary Hormone Deficiencies with or without Limited Neck Rotation

Pfaeffle, R. W., Savage, J. J., Hunter, C. S., Palme, C., Ahlmann, M., Kumar, P. K. M., BELLONE, J., Schöenau, E., Korsch, E., Brämswig, J., et al. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-2177 · Cited by 124

PROP1 Gene Screening in Patients with Multiple Pituitary Hormone Deficiency Reveals Two Sites of Hypermutability and a High Incidence of Corticotroph Deficiency

Vallette-Kasic, S., Barlier, A., Teinturier, C., Dı́az, A., Manavela, M. P., Berthezène, F., Bouchard, P., Chaussain, J., Brauner, R., Pellegrini, I., et al. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.9.7811 · Cited by 124

Human Prop‐1: cloning, mapping, genomic structure

Duquesnoy, P., Roy, A. K., Moal, F., Ghali, I., Teinturier, C., Netchine, I., Cacheux, V., Hafez, M. M., Salah, N., Chaussain, J., et al. (1998) · FEBS Letters · doi:10.1016/s0014-5793(98)01234-4 · Cited by 122

Three Novel Missense Mutations within the LHX4 Gene Are Associated with Variable Pituitary Hormone Deficiencies

Pfaeffle, R. W., Hunter, C. S., Savage, J. J., Durán‐Prado, M., Mullen, R. D., Neeb, Z. P., Eiholzer, U., Hesse, V., Haddad, N. G., Stobbe, H. M., et al. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1525 · Cited by 120

LIM-homeodomain genes in mammalian development and human disease

Hunter, C. S., & Rhodes, S. J. (2005) · Molecular Biology Reports · doi:10.1007/s11033-004-7657-z · Cited by 118

A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci

Okada, Y., Kamatani, Y., Takahashi, A., Matsuda, K., Hosono, N., Ohmiya, H., Daigo, Y., Yamamoto, K., Kubo, M., Nakamura, Y., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq091 · Cited by 118

Impaired Adrenocorticotropin-Adrenal Axis in Combined Pituitary Hormone Deficiency Caused by a Two-Base Pair Deletion (301-302delAG) in the Prophet of Pit-1 Gene

Pernasetti, F. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.85.1.390 · Cited by 117

Mechanisms related to the pathophysiology and management of central hypothyroidism

Yamada, M., & Mori, M. (2008) · Nature Clinical Practice Endocrinology & Metabolism · doi:10.1038/ncpendmet0995 · Cited by 114

Adrenocorticotropin Deficiency in Combined Pituitary Hormone Deficiency Patients Homozygous for a Novel PROP1 Deletion

Agarwal, G., Bhatia, V., Cook, S., & Thomas, P. Q. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.12.7013 · Cited by 112

Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice

Nasonkin, I. O., Ward, R. D., Raetzman, L. T., Seasholtz, A. F., Saunders, T. L., Gillespie, P. J., & Camper, S. A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh311 · Cited by 108

Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development

Mullen, R. D., Colvin, S. C., Hunter, C. S., Savage, J. J., Walvoord, E. C., Bhangoo, A., Ten, S., Weigel, J. F. W., Pfäffle, R. W., & Rhodes, S. J. (2007) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.12.019 · Cited by 107

MRG1 Binds to the LIM Domain of Lhx2 and May Function as a Coactivator to Stimulate Glycoprotein Hormone α-Subunit Gene Expression

Glenn, D. J., & Maurer, R. A. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.51.36159 · Cited by 106

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

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The response of two types of dwarf mice to growth hormone, thyrotropin, and thyroxine

Bartke, A. (1965) · General and Comparative Endocrinology · doi:10.1016/0016-6480(65)90102-4 · Cited by 100

A Novel LHX3 Mutation Presenting as Combined Pituitary Hormonal Deficiency

Bhangoo, A., Hunter, C. S., Savage, J. J., Anhalt, H., Pavlakis, S. G., Walvoord, E. C., Ten, S., & Rhodes, S. J. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2360 · Cited by 97

A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency

Pellegrini, I., Bélicar, P., Barlier, A., Gunz, G., Charvet, J. P., Jaquet, P., Brue, T. C., Vialettes, B., & Enjalbert, A. (1996) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.81.8.8768831 · Cited by 97

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)

Turton, J. P. G., Mehta, A., Raza, J., Woods‐Townsend, K., Tiulpakov, A. N., CASSAR, J., Chong, W. K., Thomas, P. Q., Marumudi, E., Ammini, A. C., et al. (2005) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2005.02291.x · Cited by 94

Cell Proliferation and Vascularization in Mouse Models of Pituitary Hormone Deficiency

Ward, R. D., Stone, B. M., Raetzman, L. T., & Camper, S. A. (2006) · Molecular Endocrinology · doi:10.1210/me.2005-0409 · Cited by 93

The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency

Cogan, J. D. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.83.9.3346 · Cited by 93

Longitudinal Imaging Reveals Pituitary Enlargement Preceding Hypoplasia in Two Brothers with Combined Pituitary Hormone Deficiency Attributable to PROP1 Mutation

Riepe, F. G., Partsch, C., Blankenstein, O., Mönig, H., Pfäffle, R. W., & Sippell, W. G. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.9.7828 · Cited by 90

Pituitary Magnetic Resonance Imaging in 15 Patients with Prop1 Gene Mutations: Pituitary Enlargement May Originate from the Intermediate Lobe

Voutetakis, A., Argyropoulou, M. I., Sertedaki, A., Livadas, S., Xekouki, P., Maniati-Christidi, M., Bossis, I., Thalassinos, N. C., Patronas, N. J., & Dacou‐Voutetakis, C. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-031765 · Cited by 89

Gonadotropin secretion, synthesis, and gene expression in human growth hormone transgenic mice and in Ames dwarf mice

Tang, K., Bartke, A., Gardiner, C. S., Wagner, T. E., & Yun, J. S. (1993) · Endocrinology · doi:10.1210/endo.132.6.8504754 · Cited by 88

Mutation analysis of POUF‐1, PROP‐1 and HESX‐1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo‐optic dysplasia

Rainbow, L., Rees, S. A., Shaikh, M. G., Shaw, N., Cole, T. J., Barrett, T. G., & Kirk, J. M. W. (2005) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2004.02189.x · Cited by 86

A Novel Dysfunctional LHX4 Mutation with High Phenotypical Variability in Patients with Hypopituitarism

Castinetti, F., Saveanu, A., Reynaud, R., Quentien, M. H., Buffin, A., Brauner, R., Kaffel, N., Albarel, F., Guedj, A. M., Kholy, M. E., et al. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2389 · Cited by 85

Central hypothyroidism

Lania, A., Persani, L., & Beck-Peccoz, P. (2008) · Pituitary · doi:10.1007/s11102-008-0122-6 · Cited by 85

Defective Retinoic Acid Regulation of the Pit-1 Gene Enhancer: A Novel Mechanism of Combined Pituitary Hormone Deficiency

Cohen, L. E., Zanger, K., Brue, T. C., Wondisford, F. E., & Radovick, S. (1999) · Molecular Endocrinology · doi:10.1210/mend.13.3.0251 · Cited by 81

Heritable Disorders of Pituitary Development

Parks, J. S. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.84.12.4362 · Cited by 81

A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty

Arroyo, A., Pernasetti, F. M., Vasilyev, V. V., Amato, P., Yen, S. S. C., & Mellon, P. L. (2002) · Clinical Endocrinology · doi:10.1046/j.1365-2265.2002.01550.x · Cited by 72

A Familial Form of Congenital Hypopituitarism Due to aPROP1Mutation in a Large Kindred: Phenotypic andin VitroFunctional Studies

Reynaud, R., CHADLI-CHAIEB, M., Vallette-Kasic, S., Barlier, A., Sarles, J., Pellegrini, I., Enjalbert, A., Chaieb, L., & Brue, T. C. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-032124 · Cited by 72

A Novel E250X Mutation of the PIT1 Gene in a Patient with Combined Pituitary Hormone Deficiency.

IRIE, Y., Tatsumi, K.-I., Ogawa, M., Kamijo, T., PREEYASOMBAT, C., Suprasongsin, C., & Amino, N. (1995) · Endocrine Journal · doi:10.1507/endocrj.42.351 · Cited by 70

Persistent Expression of Notch2 Delays Gonadotrope Differentiation

Raetzman, L. T., Wheeler, B. S., Ross, S. A., Thomas, P. Q., & Camper, S. A. (2006) · Molecular Endocrinology · doi:10.1210/me.2005-0394 · Cited by 70

Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype

Okamoto, N., Wada, Y., Ida, S., Koga, R., Ozono, K., Chiyo, H., Hayashi, A., & Tatsumi, K.-I. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.9.1565 · Cited by 70

Genetic insights into human isolated gonadotropin deficiency

Trarbach, E. B., Silveira, L. F. G., & Latronico, A. C. (2007) · Pituitary · doi:10.1007/s11102-007-0061-7 · Cited by 68

A Novel Missense Mutation (P366T) of the LHX4 Gene Causes Severe Combined Pituitary Hormone Deficiency with Pituitary Hypoplasia, Ectopic Posterior Lobe and a Poorly Developed Sella Turcica

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Lhx3, a LIM domain transcription factor, is regulated by Pou4f3 in the auditory but not in the vestibular system

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