메뉴 건너뛰기




Volumn 197, Issue 1-2, 2002, Pages 47-56

Current approaches for deciphering the molecular basis of combined anterior pituitary hormone deficiency in humans

Author keywords

Combined pituitary hormone deficiency; Development; Genetics; Mutations; Pituitary; Transcription factors

Indexed keywords

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

EID: 0037195536     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0303-7207(02)00278-2     Document Type: Review
Times cited : (8)

References (62)
  • 3
    • 0034004352 scopus 로고    scopus 로고
    • The Lim domain: Regulation by association
    • Bach I. The Lim domain: regulation by association. Mech. Dev. 91:2000;5-17.
    • (2000) Mech. Dev. , vol.91 , pp. 5-17
    • Bach, I.1
  • 5
    • 0032919366 scopus 로고    scopus 로고
    • The mouse genome database (MGD): Genetic and genomic information about the laboratory mouse, The mouse genome database group
    • Blake J.A., Richardson J.E., Davisson M.T., Eppig J.T. The mouse genome database (MGD): genetic and genomic information about the laboratory mouse, The mouse genome database group. Nucleic Acids Res. 27:1999;95-98.
    • (1999) Nucleic Acids Res. , vol.27 , pp. 95-98
    • Blake, J.A.1    Richardson, J.E.2    Davisson, M.T.3    Eppig, J.T.4
  • 8
    • 0028676217 scopus 로고
    • TKO'ed: Lox stock and barrel
    • Chambers C.A. TKO'ed: lox stock and barrel. Bioassays. 16:1994;865-868.
    • (1994) Bioassays , vol.16 , pp. 865-868
    • Chambers, C.A.1
  • 9
    • 0032846735 scopus 로고    scopus 로고
    • Combinatorial codes in signaling and synergy: Lessons from pituitary development
    • Dasen J.S., Rosenfeld M.G. Combinatorial codes in signaling and synergy: lessons from pituitary development. Curr. Opin. Genet. Dev. 9:1999a;566-574.
    • (1999) Curr. Opin. Genet. Dev. , vol.9 , pp. 566-574
    • Dasen, J.S.1    Rosenfeld, M.G.2
  • 10
    • 0032707757 scopus 로고    scopus 로고
    • Signaling mechanisms in pituitary morphogenesis and cell fate determination
    • Dasen J.S., Rosenfeld M.G. Signaling mechanisms in pituitary morphogenesis and cell fate determination. Curr. Opin. Cell Biol. 11:1999b;669-677.
    • (1999) Curr. Opin. Cell Biol. , vol.11 , pp. 669-677
    • Dasen, J.S.1    Rosenfeld, M.G.2
  • 13
    • 0024551796 scopus 로고
    • Why isn't a mouse more like a man
    • Erickson R.P. Why isn't a mouse more like a man. Trends Genet. 5:1989;1-3.
    • (1989) Trends Genet. , vol.5 , pp. 1-3
    • Erickson, R.P.1
  • 14
    • 0033365396 scopus 로고    scopus 로고
    • Digenic junctional epidermolysis bullosa; Mutations in COLI7A1 and LAMB3 genes
    • Floeth M., Bruckner-Tuderman L. Digenic junctional epidermolysis bullosa; mutations in COLI7A1 and LAMB3 genes. Am. J. Hum. Genet. 65:1999;1530-1537.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1530-1537
    • Floeth, M.1    Bruckner-Tuderman, L.2
  • 15
    • 0031741771 scopus 로고    scopus 로고
    • Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP 1 gene mutation resulting in the substitution of Arg→Cys at codon 120 (R120C)
    • Fluck C., Deladocy J., Rutishauser K., Eble A., Marti U., Wu W., Mullis P.E. Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP 1 gene mutation resulting in the substitution of Arg→Cys at codon 120 (R120C). J. Clin. Endocrinol. Metab. 83:1998;3727-3734.
    • (1998) J. Clin. Endocrinol. Metab. , vol.83 , pp. 3727-3734
    • Fluck, C.1    Deladocy, J.2    Rutishauser, K.3    Eble, A.4    Marti, U.5    Wu, W.6    Mullis, P.E.7
  • 16
    • 0027265595 scopus 로고
    • GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function
    • Godfrey P., Rahal J.O., Beamer W.G., Copeland N.G., Jenkins N.A., Mayo K.E. GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nat. Genet. 4:1993;227-232.
    • (1993) Nat. Genet. , vol.4 , pp. 227-232
    • Godfrey, P.1    Rahal, J.O.2    Beamer, W.G.3    Copeland, N.G.4    Jenkins, N.A.5    Mayo, K.E.6
  • 17
    • 0028059099 scopus 로고
    • Deletion of a DNA polymerase beta gene segment in T cell using cell type-specific gene targeting
    • Gu H., Marth J.D., Orban P.C., Mossmann H., Rajewsky K. Deletion of a DNA polymerase beta gene segment in T cell using cell type-specific gene targeting. Science. 265:1994;103-106.
    • (1994) Science , vol.265 , pp. 103-106
    • Gu, H.1    Marth, J.D.2    Orban, P.C.3    Mossmann, H.4    Rajewsky, K.5
  • 18
    • 0034667325 scopus 로고    scopus 로고
    • Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes
    • Hol F.A., Schepens M.T., van Beersutn S.E., Redolfi E., Affer M., Vezzoni P., Hamel B.C., Karnes P.S., Mariman R.C., Zucchi I. Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes. Genomics. 69:2000;174-181.
    • (2000) Genomics , vol.69 , pp. 174-181
    • Hol, F.A.1    Schepens, M.T.2    Van Beersutn, S.E.3    Redolfi, E.4    Affer, M.5    Vezzoni, P.6    Hamel, B.C.7    Karnes, P.S.8    Mariman, R.C.9    Zucchi, I.10
  • 20
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
    • Kajiwara K., Berson E.L., Dryja T.P. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science. 264:1994;1604-1608.
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kajiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 21
    • 0030057596 scopus 로고    scopus 로고
    • The T/ebp null mouse: Thyroid-specific enhancer-hinding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary
    • Kimura S., Hara Y., Pineau T., Fernandez-Salguero P., Fox C.H., Ward J.M., Gonzalez F.J. The T/ebp null mouse: thyroid-specific enhancer-hinding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev. 10:1996;60-69.
    • (1996) Genes Dev. , vol.10 , pp. 60-69
    • Kimura, S.1    Hara, Y.2    Pineau, T.3    Fernandez-Salguero, P.4    Fox, C.H.5    Ward, J.M.6    Gonzalez, F.J.7
  • 22
    • 0344359766 scopus 로고    scopus 로고
    • A model for the development of the hypothalamic-pituitary axis: Transcribing the hypophysis
    • Kioussi C., Carriere C., Rosenfeld M.G. A model for the development of the hypothalamic-pituitary axis: transcribing the hypophysis. Mech. Dev. 81:1999;23-35.
    • (1999) Mech. Dev. , vol.81 , pp. 23-35
    • Kioussi, C.1    Carriere, C.2    Rosenfeld, M.G.3
  • 23
    • 0017156048 scopus 로고
    • Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46, XY, del(1) (q25q32)
    • Koivisto M., Akerblom H.K., Remes M., de La Chapelle A. Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46, XY, del(1) (q25q32). Acta Paediatr. Scand. 65:1976;513-518.
    • (1976) Acta Paediatr. Scand. , vol.65 , pp. 513-518
    • Koivisto, M.1    Akerblom, H.K.2    Remes, M.3    De La Chapelle, A.4
  • 25
    • 0035937414 scopus 로고    scopus 로고
    • A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins
    • Lamolet B., Pulichino A.M., Lamonerie T., Gauthier Y., Brue T., Enjalbert A., Drouin J. A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. Cell. 104:2001;849-859.
    • (2001) Cell , vol.104 , pp. 849-859
    • Lamolet, B.1    Pulichino, A.M.2    Lamonerie, T.3    Gauthier, Y.4    Brue, T.5    Enjalbert, A.6    Drouin, J.7
  • 26
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
    • Lander E.S., Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science. 236:1987;1567-1570.
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 28
    • 0027288040 scopus 로고
    • Hypogonadism in a patient with balanced X/l8 translocation and pituitary hormone deficiency
    • Larizza D., Maraschio P., Maghnie M., Sampaolo P. Hypogonadism in a patient with balanced X/l8 translocation and pituitary hormone deficiency. Eur. J. Pediatr. 152:1993;424-427.
    • (1993) Eur. J. Pediatr. , vol.152 , pp. 424-427
    • Larizza, D.1    Maraschio, P.2    Maghnie, M.3    Sampaolo, P.4
  • 29
    • 0030022021 scopus 로고    scopus 로고
    • Gsh-1, an orphan Hox gene is required for normal pituitary development
    • Li H., Zeitler 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;714-774.
    • (1996) EMBO J. , vol.15 , pp. 714-774
    • Li, H.1    Zeitler, P.S.2    Valerius, M.T.3    Small, K.4    Potter, S.S.5
  • 30
    • 0025014024 scopus 로고
    • Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1
    • Li S., Crenshaw E.B.D., Rowson E.J., Simmons D.M., Swanson L.W., Rosenfeld M.G. Dwarf locus mutants 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    Crenshaw, E.B.D.2    Rowson, E.J.3    Simmons, D.M.4    Swanson, L.W.5    Rosenfeld, M.G.6
  • 31
    • 0027236844 scopus 로고
    • Molecular basis of the little mouse phenotype and implications for cell type-specific growth
    • Lin S.C., Lin C.R., Gukovsky L., Lusis A.J., Sawchenko P.E., Rosenfeld M.G. Molecular basis of the little mouse phenotype and implications for cell type-specific growth. Nature. 364:1993;208-213.
    • (1993) Nature , vol.364 , pp. 208-213
    • Lin, S.C.1    Lin, C.R.2    Gukovsky, L.3    Lusis, A.J.4    Sawchenko, P.E.5    Rosenfeld, M.G.6
  • 33
    • 0031732361 scopus 로고    scopus 로고
    • Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh
    • Maheshwari H.G., Silverman B.L., Dupuis J., Baumann G. Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: dwarfism of Sindh. J. Clin. Endocrinol. Metab. 83:1998;4065-4074.
    • (1998) J. Clin. Endocrinol. Metab. , vol.83 , pp. 4065-4074
    • Maheshwari, H.G.1    Silverman, B.L.2    Dupuis, J.3    Baumann, G.4
  • 35
    • 0032989717 scopus 로고    scopus 로고
    • Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301 G302 in the PROPI gene
    • Mendonca B.B., Osorio M.G., Latronico A.C., Estefan V., Lo L.S., Arnhold I.J. Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301 G302 in the PROPI gene. J. Clin. Endocrinol. Metab. 84:1999;942-945.
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 942-945
    • Mendonca, B.B.1    Osorio, M.G.2    Latronico, A.C.3    Estefan, V.4    Lo, L.S.5    Arnhold, I.J.6
  • 39
    • 0031732852 scopus 로고    scopus 로고
    • Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
    • Netchine L., Talon P., Dastot F., Vitaux F., Goossens M., Amselem S. Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. J. Clin. Endocrinol. Metab. 83:1998;432-436.
    • (1998) J. Clin. Endocrinol. Metab. , vol.83 , pp. 432-436
    • Netchine, L.1    Talon, P.2    Dastot, F.3    Vitaux, F.4    Goossens, M.5    Amselem, S.6
  • 44
    • 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 T.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, T.A.4    Weintraub, B.D.5    Wondisford, F.E.6
  • 45
    • 0035895496 scopus 로고    scopus 로고
    • Computational biology. Bioinformatics - Trying to swim in a sea of data
    • Roos D.S. Computational biology. Bioinformatics - trying to swim in a sea of data. Science. 291:2001;1260-1261.
    • (2001) Science , vol.291 , pp. 1260-1261
    • Roos, D.S.1
  • 46
    • 0028558774 scopus 로고
    • The mouse homeoprotein mLIM-3 is expressed early in cells derived from the neuroepithelium and persists in adult pituitary
    • Seidah N.G., Barale J.C., Marcinkiewiez M., Mattei M.G., Day R., Chretien M. The mouse homeoprotein mLIM-3 is expressed early in cells derived from the neuroepithelium and persists in adult pituitary. DNA Cell Biol. 13:1994;1163-1180.
    • (1994) DNA Cell Biol. , vol.13 , pp. 1163-1180
    • Seidah, N.G.1    Barale, J.C.2    Marcinkiewiez, M.3    Mattei, M.G.4    Day, R.5    Chretien, M.6
  • 47
    • 0033152190 scopus 로고    scopus 로고
    • Early steps in pituitary organogenesis
    • Sheng H.Z., Westphal H. Early steps in pituitary organogenesis. Trends Genet. 15:1999;236-240.
    • (1999) Trends Genet. , vol.15 , pp. 236-240
    • Sheng, H.Z.1    Westphal, H.2
  • 50
    • 0029061047 scopus 로고
    • Ectopic posterior pituitary tissue and paracentric inversion of the short arm of chromosome 1 in twins
    • Siegel S.F., Alidab-Barmada M., Arslanian S., Foley T.P. Jr. Ectopic posterior pituitary tissue and paracentric inversion of the short arm of chromosome 1 in twins. Eur. J. Endocrinol. 133:1995;87-92.
    • (1995) Eur. J. Endocrinol. , vol.133 , pp. 87-92
    • Siegel, S.F.1    Alidab-Barmada, M.2    Arslanian, S.3    Foley T.P., Jr.4
  • 58
    • 0030033150 scopus 로고    scopus 로고
    • Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse
    • Wajnrajch M.P., Gertner J.M., Harbison M.D., Chua S.C. Jr, Leibel R.L. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat. Genet. 12:1996;88-90.
    • (1996) Nat. Genet. , vol.12 , pp. 88-90
    • Wajnrajch, M.P.1    Gertner, J.M.2    Harbison, M.D.3    Chua S.C., Jr.4    Leibel, R.L.5
  • 59
    • 0032127186 scopus 로고    scopus 로고
    • How many homeobox genes does it take to make a pituitary gland
    • Watkins-Chow D.E., Camper S.A. How many homeobox genes does it take to make a pituitary gland. Trends Genet. 14:1998;284-290.
    • (1998) Trends Genet. , vol.14 , pp. 284-290
    • Watkins-Chow, D.E.1    Camper, S.A.2
  • 61
    • 0029947832 scopus 로고    scopus 로고
    • Model mice and human disease
    • Wynshaw-Boris A. Model mice and human disease. Nat. Genet. 13:1996;259-260.
    • (1996) Nat. Genet. , vol.13 , pp. 259-260
    • Wynshaw-Boris, A.1
  • 62
    • 0034948676 scopus 로고    scopus 로고
    • Anterior pituitary failure (panhypopituitarism) with balanced chromosome translocation 46; XY 1(11;22) (q24;q13)
    • Yang C.Y., Chou C.W., Chen S.Y., Cheng H.M. Anterior pituitary failure (panhypopituitarism) with balanced chromosome translocation 46; XY 1(11;22) (q24;q13). Zhonghua Yi Xue Za Zhi (Taipei). 64:2001;247-252.
    • (2001) Zhonghua Yi Xue Za Zhi (Taipei) , vol.64 , pp. 247-252
    • Yang, C.Y.1    Chou, C.W.2    Chen, S.Y.3    Cheng, H.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.