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

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

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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 · see citing works

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 · see citing works

“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 · see citing works

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

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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 · see citing works

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

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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 · see citing works

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 · see citing works

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

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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 · see citing works

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 · see citing works

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

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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 · see citing works

Transcriptional control during mammalian anterior pituitary development

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

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

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

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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 · see citing works

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

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Human Prop‐1: cloning, mapping, genomic structure

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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 · see citing works

LIM-homeodomain genes in mammalian development and human disease

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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 · see citing works

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 · see citing works

Mechanisms related to the pathophysiology and management of central hypothyroidism

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

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Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice

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

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

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

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Yield of mtDNA mutation analysis in 2,000 patients

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

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A Novel LHX3 Mutation Presenting as Combined Pituitary Hormonal Deficiency

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

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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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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

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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 · see citing works

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

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Central hypothyroidism

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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 · see citing works

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 · see citing works

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 · see citing works

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 70 · see citing works

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

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