메뉴 건너뛰기




Volumn 9, Issue SUPPL. B, 1999, Pages 12-17

Gene analysis of PROP1 in dwarfism with combined pituitary hormone deficiency

Author keywords

Combined pituitary hormone deficiency (CPHD); POU1F1; PROP1

Indexed keywords

ADENOHYPOPHYSIS HORMONE; DNA; GROWTH HORMONE; PROLACTIN; THYROTROPIN; TRANSCRIPTION FACTOR;

EID: 0032888087     PISSN: 10966374     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-6374(99)80075-6     Document Type: Conference Paper
Times cited : (10)

References (21)
  • 1
    • 85119787477 scopus 로고
    • Phillips J. Scriver C. Metabolic Basis of Inherited Diseases 1995 McGraw-Hill New York 3023 3044
    • (1995) , pp. 3023-3044
  • 2
    • 0025014024 scopus 로고
    • Dwarf locus mutations lacking three pituitary cell types result from mutations in the POU-domain gene pit-1
    • Li S. Crenshow E.B. III Rawson E.J. Simmons D.M. Swanson L.W. Rosenfeld M.G. Dwarf locus mutations lacking three pituitary cell types result from mutations in the POU-domain gene pit-1 Nature 347 1990 528 533
    • (1990) Nature , vol.347 , pp. 528-533
    • Li, S.1    Crenshow, E.B.2    Rawson, E.J.3    Simmons, D.M.4    Swanson, L.W.5    Rosenfeld, M.G.6
  • 3
    • 0026667857 scopus 로고
    • Mutation of the POU-specific domain of PIT-1 and hypohroidism without pituitary hypoplasia
    • Pfaffle R.W. DiMatitta G.E. Parks J.S. Brown M.R. Wit J.M. Jansen M. Mutation of the POU-specific domain of PIT-1 and hypohroidism without pituitary hypoplasia Science 257 1992 1118 1121
    • (1992) Science , vol.257 , pp. 1118-1121
    • Pfaffle, R.W.1    DiMatitta, G.E.2    Parks, J.S.3    Brown, M.R.4    Wit, J.M.5    Jansen, M.6
  • 4
    • 0026849691 scopus 로고
    • Cretinism with combined hormone deficiency caused by a mutation in the PIT-1 gene
    • Tatsumi K. Miyai K. Notomi T. Kaibe K. Amino N. Mizuho Y. Cretinism with combined hormone deficiency caused by a mutation in the PIT-1 gene Nat Genet 1 1992 56 58
    • (1992) Nat Genet , vol.1 , pp. 56-58
    • Tatsumi, K.1    Miyai, K.2    Notomi, T.3    Kaibe, K.4    Amino, N.5    Mizuho, Y.6
  • 5
    • 0026767630 scopus 로고
    • A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency
    • Radovick S. Nations M. Du Y. Berg L.A. Weintraub B.D. Wondisford F.E. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency Science 257 1992 1115 1118
    • (1992) Science , vol.257 , pp. 1115-1118
    • Radovick, S.1    Nations, M.2    Du, Y.3    Berg, L.A.4    Weintraub, B.D.5    Wondisford, F.E.6
  • 7
    • 0029121819 scopus 로고
    • A novel E250X mutation of the Pit-1 gene in a patient with combined pituitary hormone deficiency
    • Irie Y. Tatsumi K. Ogawa M. Kamijyo T. Preeyasombat C. Suprasongsin C. A novel E250X mutation of the Pit-1 gene in a patient with combined pituitary hormone deficiency Endocrinol J 42 1995 351 354
    • (1995) Endocrinol J , vol.42 , pp. 351-354
    • Irie, Y.1    Tatsumi, K.2    Ogawa, M.3    Kamijyo, T.4    Preeyasombat, C.5    Suprasongsin, C.6
  • 8
    • 17544393646 scopus 로고    scopus 로고
    • Rarity of PITT involvement in children from Russia with combined pituitary hormone deficiency
    • Fofanova O.V. Takamura N. Kinoshita E.I. Rarity of PITT involvement in children from Russia with combined pituitary hormone deficiency Am J Med Genet 77 1998 360 365
    • (1998) Am J Med Genet , vol.77 , pp. 360-365
    • Fofanova, O.V.1    Takamura, N.2    Kinoshita, E.I.3
  • 9
    • 10544256602 scopus 로고    scopus 로고
    • Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism
    • Sornson M.W. Wu W. Dasen J.S. Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism Nature 384 1996 327 333
    • (1996) Nature , vol.384 , pp. 327-333
    • Sornson, M.W.1    Wu, W.2    Dasen, J.S.3
  • 10
    • 17344371881 scopus 로고    scopus 로고
    • Mutations in PROP1 cause familial combined pituitary hormone deficiency
    • Wu W. Cogan J.D. Pfaffe R.W. Mutations in PROP1 cause familial combined pituitary hormone deficiency Nat Genet 18 1998 147 149
    • (1998) Nat Genet , vol.18 , pp. 147-149
    • Wu, W.1    Cogan, J.D.2    Pfaffe, R.W.3
  • 11
    • 0032034425 scopus 로고    scopus 로고
    • A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency
    • Fofanova O.V. Takamura N. Kinoshita E.I. A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency Pituitary 1 1998 45 49
    • (1998) Pituitary , vol.1 , pp. 45-49
    • Fofanova, O.V.1    Takamura, N.2    Kinoshita, E.I.3
  • 13
    • 0031741771 scopus 로고    scopus 로고
    • Phenotype variability in familial combined pituitary hormone deficiency caused by PROP1 gene mutation resulting in the substitution of Arg→Cys atcodon 120 (R120C)
    • Fluck C. Deladoey J. Rutishauser K. Phenotype variability in familial combined pituitary hormone deficiency caused by PROP1 gene mutation resulting in the substitution of Arg→Cys atcodon 120 (R120C) J Clin Endocrinol Metab 83 1998 3727 3734
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3727-3734
    • Fluck, C.1    Deladoey, J.2    Rutishauser, K.3
  • 14
    • 0032561414 scopus 로고    scopus 로고
    • Human Prop-1: cloning, mapping, genomic structure mutations in familial combined pituitary hormone deficiency
    • Duquesnoy P. Roy A. Dastot F. Human Prop-1: cloning, mapping, genomic structure mutations in familial combined pituitary hormone deficiency FEBS Lett 437 1998 216 220
    • (1998) FEBS Lett , vol.437 , pp. 216-220
    • Duquesnoy, P.1    Roy, A.2    Dastot, F.3
  • 16
    • 0030022021 scopus 로고    scopus 로고
    • Gsh-1, an orphan Hox gene, is required for normal pituitary development
    • Li H. Zetter P.S. Valerius M.T. Small K. Potter S.S. Gsh-1, an orphan Hox gene, is required for normal pituitary development EMBO J 15 1996 714 724
    • (1996) EMBO J , vol.15 , pp. 714-724
    • Li, H.1    Zetter, P.S.2    Valerius, M.T.3    Small, K.4    Potter, S.S.5
  • 20
    • 0031923473 scopus 로고    scopus 로고
    • Visceral endodermrestricted translation of Otx1 mediates recovery of Otx2 requirements for specification of anterior neural plate and normal gastrulation
    • Acampora D. Avantaggiato V. Tuorto F. Visceral endodermrestricted translation of Otx1 mediates recovery of Otx2 requirements for specification of anterior neural plate and normal gastrulation Development 125 1998 1229 1239
    • (1998) Development , vol.125 , pp. 1229-1239
    • Acampora, D.1    Avantaggiato, V.2    Tuorto, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.