| 1 | CPHD1, POU1F1
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| High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
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| Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA.
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| Am J Hum Genet. Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. Epub 2021 Jul 15 2021
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| 2 | CPHD1, POU1F1
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| A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.
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| Takagi M, Kamasaki H, Yagi H, Fukuzawa R, Narumi S, Hasegawa T.
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| Endocr J. Feb 27;64(2):229-234. doi: 10.1507/endocrj.EJ16-0361. Epub 2016 Nov 22. 2017
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| 3 | CPHD1, POU1F1
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| Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD
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| Sobrier ML, Tsai YC, Pérez C, Leheup B, Bouceba T, Duquesnoy P, Copin B, Sizova D, Penzo A, Stanger BZ, Cooke NE, Liebhaber SA, Amselem S.
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| Hum Mol Genet. Feb 1;25(3):472-83. doi: 10.1093/hmg/ddv486. Epub 2015 Nov 26. 2016
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| 4 | HESX1, PROP1, POU1F1, CPHD1, CPHD2, SOPT
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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.
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| Rainbow LA, Rees SA, Shaikh MG, Shaw NJ, Cole T, Barrett TG, Kirk JM.
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| Clin Endocrinol (Oxf) 62(2):163-8. 2005
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| 5 | CPHD1, POU1F1
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| Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia : a clue to a PIT-1 mutation.
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| Ward L, et al.
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| J Pediatr 132 : 1036-1038. 1998
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| 6 | CPHD1
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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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| Pellegrini-Bouiller I, et al.
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| J Clin Endocrinol Metab 81 : 2790-2796. 1996
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| 7 | CPHD1
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| Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism.
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| Raskin S, et al.
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| Hum Genet 98 : 703-705. 1996
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| 8 | CPHD1
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| Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.
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| Okamoto N, et al.
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| Hum Mol Genet 3 : 1565-1568. 1994
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| 9 | CPHD1
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| An alternative Pit-1 RNA splicing product reveals modular binding and nonmodular transcriptional activities of the POU-specific domain.
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| Voss JW, et al.
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| Mol Endocrinol 7 : 1551-1560. 1993
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| 10 | CPHD1, POU2F1, POU2F2, POU3F2, POU3F4, POU4F1, POU5F1, POU5F1B, POU5F1P3, POU6F1
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| Chromosomal organization of mammalian POU domain factors.
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| Xia YR, et al.
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| Genomics 18 : 126-130. 1993
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| 11 | CPHD1
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| Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.
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| Tatsumi KI, et al.
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| Nat Genet 1 : 56-58. 1992
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| 12 | CPHD1
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| Mutation of the POU-specific domain of pit-1 and hypopituitarism without pituitary hypoplasia.
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| PfŠffle RW, et al.
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| Science 257 : 1118-1121. 1992
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| 13 | CPHD1
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| A mutation in the POU-homeodomain of pit-1 responsible for combined pituitary hormone deficiency.
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| Radovick S, et al.
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| Science 257 : 1115-1118. 1992
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| 14 | CPHD1
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| Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1.
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| Ohta K, et al.
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| Gene 122 : 387-388. 1992
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| 15 | CPHD1
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| Mutations in the PIT-1 gene in children with combined pituitary hormone deficiency.
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| Ohta K, et al.
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| Biochem Biophys Res Commun 189 : 851-855. 1992
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| 16 | CPHD1
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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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| Li S, et al.
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| Nature 347 : 528-533. 1990
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