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Volumn 156, Issue 11, 1997, Pages 829-834

Pituitary dwarfism in the R271W Pit-1 gene mutation

Author keywords

Dysmorphology; Pit 1 gene; Pituitary dwarfism; Thyroid function

Indexed keywords

GENE PRODUCT; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR; PROLACTIN; THYROTROPIN; THYROXINE; TRANSCRIPTION FACTOR PIT 1;

EID: 0030781349     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050722     Document Type: Article
Times cited : (39)

References (20)
  • 1
    • 0028980503 scopus 로고
    • A "hot spot" in the Pit-1 gene responsible for combined pituitary hormone deficiency: Clinical and molecular correlates
    • Cohen L, Wondisford FE, Salvatoni A, et al. (1995) A "hot spot" in the Pit-1 gene responsible for combined pituitary hormone deficiency: clinical and molecular correlates. J Clin Endocrinol Metab 80:679-684
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 679-684
    • Cohen, L.1    Wondisford, F.E.2    Salvatoni, A.3
  • 4
    • 0025752980 scopus 로고
    • Application of natural and amplification created restriction sites for the diagnosis of PKU mutations
    • Eiken HG, Odland E, Coman H, Skjelkvåle L, Engebretsen LF, Apold J (1991) Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res 19:1427-1430
    • (1991) Nucleic Acids Res , vol.19 , pp. 1427-1430
    • Eiken, H.G.1    Odland, E.2    Coman, H.3    Skjelkvåle, L.4    Engebretsen, L.F.5    Apold, J.6
  • 6
    • 26844470231 scopus 로고
    • GH, TSH and PRL deficiencies due to Pit-1 gene mutation
    • Holl RW, Pfäffle R, Kim C, Teller WM, Heimann G (1995) GH, TSH and PRL deficiencies due to Pit-1 gene mutation. Hormone Res 44 [Suppl 1]:35
    • (1995) Hormone Res , vol.44 , Issue.1 SUPPL. , pp. 35
    • Holl, R.W.1    Pfäffle, R.2    Kim, C.3    Teller, W.M.4    Heimann, G.5
  • 7
    • 0028998014 scopus 로고
    • Prismatic case: Laron syndrome (primary growth hormone resistance) from patient to laboratory to patient
    • Laron Z (1995) Prismatic case: Laron syndrome (primary growth hormone resistance) from patient to laboratory to patient. J Clin Endocrinol Metab 80:1526-1531
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 1526-1531
    • Laron, Z.1
  • 8
    • 0025014024 scopus 로고
    • Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1
    • Li S, Crenshaw III EB, Rawson EJ, Simmons DM, Swanson LW, Rosenfeld MG (1990) Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1. Nature 347:528-533
    • (1990) Nature , vol.347 , pp. 528-533
    • Li, S.1    Crenshaw III, E.B.2    Rawson, E.J.3    Simmons, D.M.4    Swanson, L.W.5    Rosenfeld, M.G.6
  • 9
    • 0027080611 scopus 로고
    • Mutation of the Pit-1 gene in children with combined pituitary hormone deficiency
    • Ohta K, Nobukini Y, Mitsubuhi H, et al. (1992) Mutation of the Pit-1 gene in children with combined pituitary hormone deficiency. Biochem Biophys Res Comm 189:851-855
    • (1992) Biochem Biophys Res Comm , vol.189 , pp. 851-855
    • Ohta, K.1    Nobukini, Y.2    Mitsubuhi, H.3
  • 10
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point-mutations and DNA polymerisms using polymerase chain reactions
    • Orita M, Suzuki Y, Sekia T, Hayashi K (1989) Rapid and sensitive detection of point-mutations and DNA polymerisms using polymerase chain reactions. Genomics 5:874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekia, T.3    Hayashi, K.4
  • 11
    • 0026667857 scopus 로고
    • Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia
    • Pfäffle RW, DiMatlia GE, Parks JS (1992) Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia. Science 272:1118-1121
    • (1992) Science , vol.272 , pp. 1118-1121
    • Pfäffle, R.W.1    DiMatlia, G.E.2    Parks, J.S.3
  • 12
    • 0343460423 scopus 로고
    • A genetic cause of familial and sporadic cases with combined pituitary hormone deficiencies for GH, PRL and TSH
    • Pfäffle RW, Otten B, Eiholzer U, Kim C, Blankenstein O (1995) A genetic cause of familial and sporadic cases with combined pituitary hormone deficiencies for GH, PRL and TSH. Hormone Res 44 [Suppl 1]:9
    • (1995) Hormone Res , vol.44 , Issue.1 SUPPL. , pp. 9
    • Pfäffle, R.W.1    Otten, B.2    Eiholzer, U.3    Kim, C.4    Blankenstein, O.5
  • 13
    • 0026767630 scopus 로고
    • A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency
    • Radovic S, Nations M, Du Y, Berg LA, Weintraub BD, Wondisford FE (1992) A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. Science 257:1115-1118
    • (1992) Science , vol.257 , pp. 1115-1118
    • Radovic, S.1    Nations, M.2    Du, Y.3    Berg, L.A.4    Weintraub, B.D.5    Wondisford, F.E.6
  • 14
    • 0025735101 scopus 로고
    • POU-domain transcription factors: Pouer-ful developmental regulators
    • Rosenfeld MG (1991) POU-domain transcription factors: pouer-ful developmental regulators. Genes Dev 5:897-907
    • (1991) Genes Dev , vol.5 , pp. 897-907
    • Rosenfeld, M.G.1
  • 16
    • 0026754225 scopus 로고
    • Hormonal regulation of the thyreotropin subunit by phosphorylation of the pituitary-specific transcription factor Pit-1
    • Steinfelder HJ, Radovick S, Wondisford FE (1992) Hormonal regulation of the thyreotropin subunit by phosphorylation of the pituitary-specific transcription factor Pit-1. Proc Natl Acad Sci USA 89:5942-5945
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 5942-5945
    • Steinfelder, H.J.1    Radovick, S.2    Wondisford, F.E.3
  • 17
    • 0026849691 scopus 로고
    • Cretinism with combined hormone deficiency caused by a mutation of the PIT 1 gene
    • Tatsumi KI, Miyai K, Notomi T, et al. (1992) Cretinism with combined hormone deficiency caused by a mutation of the PIT 1 gene. Nature Genet 1:56-58
    • (1992) Nature Genet , vol.1 , pp. 56-58
    • Tatsumi, K.I.1    Miyai, K.2    Notomi, T.3
  • 18
    • 0027733628 scopus 로고
    • Transcriptional control of GH expression and anterior pituitary development
    • Theil LE, Karin M (1993) Transcriptional control of GH expression and anterior pituitary development. Endocr Rev 14:670-689
    • (1993) Endocr Rev , vol.14 , pp. 670-689
    • Theil, L.E.1    Karin, M.2
  • 19
    • 84967821245 scopus 로고
    • Hormonal and other inherited growth disturbances in mice with special reference to the Snell dwarfed mouse
    • Van Buul Offers S (1983) Hormonal and other inherited growth disturbances in mice with special reference to the Snell dwarfed mouse. Acta Endocr 102 [Suppl 258]:1-47
    • (1983) Acta Endocr , vol.102 , Issue.258 SUPPL. , pp. 1-47
    • Van Buul Offers, S.1
  • 20
    • 0026657816 scopus 로고
    • Anterior pituitary development: Short tales from dwarf mice
    • Voss JE, Rosenfeld MG (1992) Anterior pituitary development: short tales from dwarf mice. Cell 70:527-530
    • (1992) Cell , vol.70 , pp. 527-530
    • Voss, J.E.1    Rosenfeld, M.G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.