POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature

[1]  N. Shah,et al.  Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity , 2020, Pituitary.

[2]  S. Poyrazoglu,et al.  Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms , 2018, Hormones.

[3]  T. Visser,et al.  Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies , 2017, Pituitary.

[4]  M. Bahçeci,et al.  Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes , 2017, Journal of Human Genetics.

[5]  R. Fukuzawa,et al.  A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. , 2017, Endocrine journal.

[6]  Ryan E. Mills,et al.  Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. , 2016, Endocrine reviews.

[7]  A. Bhalla,et al.  Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency , 2016, Hormone and Metabolic Research.

[8]  F. Alkuraya,et al.  Joint laxity in homozygotes for severe POU1F1 mutations , 2016, American journal of medical genetics. Part A.

[9]  S. Liebhaber,et al.  Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD. , 2016, Human Molecular Genetics.

[10]  F. Prodam,et al.  Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort , 2015, Clinical endocrinology.

[11]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[12]  F. Ozkinay,et al.  Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency , 2014, Journal of pediatric endocrinology & metabolism : JPEM.

[13]  S. Radovick,et al.  Vertical transmission of hypopituitarism: critical importance of appropriate interpretation of thyroid function tests and levothyroxine therapy during pregnancy. , 2013, Thyroid : official journal of the American Thyroid Association.

[14]  M. Dattani,et al.  Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency , 2012, Clinical endocrinology.

[15]  T. Ogata,et al.  Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT‐1 gene in Japanese identical twins with mild combined pituitary hormone deficiency , 2012, Clinical endocrinology.

[16]  M. Phillip,et al.  Homozygous microdeletion of the POU1F1, CHMP2B, and VGLL3 genes in chromosome 3—A novel syndrome , 2011, American journal of medical genetics. Part A.

[17]  A. Uitterlinden,et al.  PROP1, HESX1, POU1F1, LHX3 and LHX4 Mutation and Deletion Screening and GH1 P89L and IVS3+1/+2 Mutation Screening in a Dutch Nationwide Cohort of Patients with Combined Pituitary Hormone Deficiency , 2010, Hormone Research in Paediatrics.

[18]  S. Mansour,et al.  Pit-1 mutation and lipoedema in a family. , 2009, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

[19]  F. de Zegher,et al.  Absent or Delayed Adrenarche in Pit-1/POU1F1 Deficiency , 2005, Hormone Research in Paediatrics.

[20]  M. Dattani,et al.  Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. , 2005, The Journal of clinical endocrinology and metabolism.

[21]  T. Cole,et al.  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 , 2005, Clinical endocrinology.

[22]  E. Zammarchi,et al.  The De Novo Q167K Mutation in the POU1F1 Gene Leads to Combined Pituitary Hormone Deficiency in an Italian Patient , 2003, Pediatric Research.

[23]  S. Gallati,et al.  New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype. , 2003, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

[24]  K. Yagita,et al.  Novel Function of the Transactivation Domain of a Pituitary-specific Transcription Factor, Pit-1* , 2002, The Journal of Biological Chemistry.

[25]  M. Phillip,et al.  A Novel Mutation in PIT-1: Phenotypic Variability in Familial Combined Pituitary Hormone Deficiencies , 2002, Journal of pediatric endocrinology & metabolism : JPEM.

[26]  S. Wüller,et al.  Combined pituirary hormone deficency: role of Pit‐1 and Prop‐1 , 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

[27]  M. Rosenfeld,et al.  Reciprocal Interactions of Pit1 and GATA2 Mediate Signaling Gradient–Induced Determination of Pituitary Cell Types , 1999, Cell.

[28]  L. Cohen,et al.  Defective retinoic acid regulation of the Pit-1 gene enhancer: a novel mechanism of combined pituitary hormone deficiency. , 1999 .

[29]  O. Evgrafov,et al.  Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency. , 1998, American journal of medical genetics.

[30]  J. Martial,et al.  Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency. , 1998, The Journal of clinical endocrinology and metabolism.

[31]  T. Voss,et al.  Clinical and Molecular Characterization of a Brazilian Patient with Pit-1 Deficiency , 1998, Journal of pediatric endocrinology & metabolism : JPEM.

[32]  A. Barlier,et al.  A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. , 1996, The Journal of clinical endocrinology and metabolism.

[33]  J. Martial,et al.  The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency. , 1995, The Journal of clinical endocrinology and metabolism.

[34]  N. Amino,et al.  A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency. , 1995, Endocrine journal.

[35]  Y. Wada,et al.  Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype. , 1994, Human molecular genetics.

[36]  M. Rosenfeld,et al.  Pituitary ontogeny of the Snell dwarf mouse reveals Pit-1-independent and Pit-1-dependent origins of the thyrotrope. , 1994, Development.

[37]  Y. Nobukuni,et al.  Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. , 1992, Biochemical and biophysical research communications.

[38]  T. Notomi,et al.  Cretinism with Combined Hormone Deficiency Caused by a Mutation in the Pit-I Gene , 1992 .

[39]  F. Wondisford,et al.  A Mutation in the POU-Homeodomain of Pit-1 Responsible for Combined Pituitary Hormone Deficiency , 1992, Science.

[40]  M. Rosenfeld,et al.  Mutation of the POU-Specific Domain of Pit-1 and Hypopituitarism Without Pituitary Hypoplasia , 1992, Science.

[41]  T. Notomi,et al.  Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene , 1992, Nature Genetics.

[42]  Larry W. Swanson,et al.  Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1 , 1990, Nature.

[43]  G. Snell.  DWARF, A NEW MENDELIAN RECESSIVE CHARACTER OF THE HOUSE MOUSE. , 1929, Proceedings of the National Academy of Sciences of the United States of America.

[44]  H. Gilford.  Case of Asexual Ateleiosis , 1911 .