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Volumn 46, Issue 3, 2011, Pages

Novel mutations associated with combined pituitary hormone deficiency

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; PROPHET OF PIT 1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HESX1; TRANSCRIPTION FACTOR LHX3; TRANSCRIPTION FACTOR LHX4; TRANSCRIPTION FACTOR OTX2; UNCLASSIFIED DRUG;

EID: 79959513055     PISSN: 09525041     EISSN: 14796813     Source Type: Journal    
DOI: 10.1530/JME-10-0133     Document Type: Review
Times cited : (36)

References (72)
  • 2
    • 0034603793 scopus 로고    scopus 로고
    • Genetic and molecular roles of otx homeodomain proteins in head development
    • doi:10.1016/S0378-1119(00)00070-6
    • Acampora D, Gulisano M & Simeone A 2000 Genetic and molecular roles of otx homeodomain proteins in head development. Gene 246 23-35. (doi:10.1016/S0378-1119(00)00070-6)
    • (2000) Gene , vol.246 , pp. 23-35
    • Acampora, D.1    Gulisano, M.2    Simeone, A.3
  • 3
    • 0034485839 scopus 로고    scopus 로고
    • Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion
    • doi:10.1210/jc.85.12. 4556
    • Agarwal G, Bhatia V, Cook S & Thomas PQ 2000 Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. Journal of Clinical Endocrinology and Metabolism 85 4556-4561. (doi:10.1210/jc.85.12. 4556)
    • (2000) Journal of Clinical Endocrinology and Metabolism , vol.85 , pp. 4556-4561
    • Agarwal, G.1    Bhatia, V.2    Cook, S.3    Thomas, P.Q.4
  • 12
    • 0032911188 scopus 로고    scopus 로고
    • Defective retinoic acid regulation of the pit-1 gene enhancer: A novel mechanism of combined pituitary hormone deficiency
    • doi:10.1210/me.13.3.476
    • Cohen LE, Zanger K, Brue T, Wondisford FE & Radovick S 1999b Defective retinoic acid regulation of the pit-1 gene enhancer: a novel mechanism of combined pituitary hormone deficiency. Molecular Endocrinology 13 476-484. (doi:10.1210/me.13.3.476)
    • (1999) Molecular Endocrinology , vol.13 , pp. 476-484
    • Cohen, L.E.1    Zanger, K.2    Brue, T.3    Wondisford, F.E.4    Radovick, S.5
  • 14
    • 0034916432 scopus 로고    scopus 로고
    • Signaling and transcriptional mechanisms in pituitary development
    • doi:10.1146/annurev.neuro.24.1.327
    • Dasen JS & Rosenfeld MG 2001 Signaling and transcriptional mechanisms in pituitary development. Annual Review of Neuroscience 24 327-355. (doi:10.1146/annurev.neuro.24.1.327)
    • (2001) Annual Review of Neuroscience , vol.24 , pp. 327-355
    • Dasen, J.S.1    Rosenfeld, M.G.2
  • 15
    • 53749102565 scopus 로고    scopus 로고
    • OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: Functional studies using the IRBP, HESX1, and POU1F1 promoters
    • doi:10.1210/jc.2008-0720
    • Dateki S, Fukami M, Sato N, Muroya K, Adachi M & Ogata T 2008 OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. Journal of Clinical Endocrinology and Metabolism 93 3697-3702. (doi:10.1210/jc.2008-0720)
    • (2008) Journal of Clinical Endocrinology and Metabolism , vol.93 , pp. 3697-3702
    • Dateki, S.1    Fukami, M.2    Sato, N.3    Muroya, K.4    Adachi, M.5    Ogata, T.6
  • 18
    • 57349103617 scopus 로고    scopus 로고
    • A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency
    • doi:10.1210/jc.2008-1189
    • Diaczok D, Romero C, Zunich J, Marshall I & Radovick S 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. Journal of Clinical Endocrinology and Metabolism 93 4351-4359. (doi:10.1210/jc.2008-1189)
    • (2008) Journal of Clinical Endocrinology and Metabolism , vol.93 , pp. 4351-4359
    • Diaczok, D.1    Romero, C.2    Zunich, J.3    Marshall, I.4    Radovick, S.5
  • 19
    • 0032561414 scopus 로고    scopus 로고
    • Human prop-1: Cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency
    • doi:10.1016/S0014-5793(98)01234-4
    • Duquesnoy P, Roy A, Dastot F, Ghali I, Teinturier C, Netchine I, Cacheux V, Hafez M, Salah N, Chaussain JL et al. 1998 Human prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. FEBS Letters 437 216-220. (doi:10.1016/S0014-5793(98)01234-4)
    • (1998) FEBS Letters , vol.437 , pp. 216-220
    • Duquesnoy, P.1    Roy, A.2    Dastot, F.3    Ghali, I.4    Teinturier, C.5    Netchine, I.6    Cacheux, V.7    Hafez, M.8    Salah, N.9    Chaussain, J.L.10
  • 20
    • 56449105561 scopus 로고    scopus 로고
    • Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development
    • doi:10.1016/j.ydbio.2008.08.008
    • Gaston-Massuet C, Andoniadou CL, Signore M, Sajedi E, Bird S, Turner JM &Martinez-Barbera JP 2008 Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development. Developmental Biology 324 322-333. (doi:10.1016/j.ydbio.2008.08.008)
    • (2008) Developmental Biology , vol.324 , pp. 322-333
    • Gaston-Massuet, C.1    Andoniadou, C.L.2    Signore, M.3    Sajedi, E.4    Bird, S.5    Turner, J.M.6    Martinez-Barbera, J.P.7
  • 22
    • 0030068242 scopus 로고    scopus 로고
    • Rpx: A novel anteriorrestricted homeobox gene progressively activated in the prechordal plate, anterior neural plate and Rathke's pouch of the mouse embryo
    • Hermesz E, Mackem S & Mahon KA 1996 Rpx: a novel anteriorrestricted homeobox gene progressively activated in the prechordal plate, anterior neural plate and Rathke's pouch of the mouse embryo. Development 122 41-52.
    • (1996) Development , vol.122 , pp. 41-52
    • Hermesz, E.1    Mackem, S.2    Mahon, K.A.3
  • 23
    • 71849107479 scopus 로고    scopus 로고
    • Pituitary homeodomain transcription factors HESX1 and PROP1 form a heterodimer on the inverted TAAT motif
    • doi:10.1016/j.mce.2009.10.006
    • Kato Y, Kimoto F, Susa T, Nakayama M, Ishikawa A & Kato T 2010 Pituitary homeodomain transcription factors HESX1 and PROP1 form a heterodimer on the inverted TAAT motif. Molecular and Cellular Endocrinology 315 168-173. (doi:10.1016/j.mce.2009.10.006)
    • (2010) Molecular and Cellular Endocrinology , vol.315 , pp. 168-173
    • Kato, Y.1    Kimoto, F.2    Susa, T.3    Nakayama, M.4    Ishikawa, A.5    Kato, T.6
  • 24
    • 33847171542 scopus 로고    scopus 로고
    • The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism
    • doi:10.1080/07853890600994963
    • Kelberman D & Dattani MT 2006 The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. Annals of Medicine 38 560-577. (doi:10.1080/07853890600994963)
    • (2006) Annals of Medicine , vol.38 , pp. 560-577
    • Kelberman, D.1    Dattani, M.T.2
  • 25
    • 40949141982 scopus 로고    scopus 로고
    • Hypopituitarism oddities: Congenital causes
    • (doi:10.1159/ 000110610)
    • Kelberman D & Dattani MT 2007 Hypopituitarism oddities: congenital causes. Hormone Research 68 (Supplement 5) 138-144. (doi:10.1159/ 000110610)
    • (2007) Hormone Research , vol.68 , Issue.SUPPL. 5 , pp. 138-144
    • Kelberman, D.1    Dattani, M.T.2
  • 29
    • 73249143539 scopus 로고    scopus 로고
    • Genetic regulation of pituitary gland development in human and mouse
    • doi:10.1210/er.2009-0008
    • Kelberman D, Rizzoti K, Lovell-Badge R, Robinson IC & Dattani MT 2009 Genetic regulation of pituitary gland development in human and mouse. Endocrine Reviews 30 790-829. (doi:10.1210/er.2009-0008)
    • (2009) Endocrine Reviews , vol.30 , pp. 790-829
    • Kelberman, D.1    Rizzoti, K.2    Lovell-Badge, R.3    Robinson, I.C.4    Dattani, M.T.5
  • 30
    • 65249098467 scopus 로고    scopus 로고
    • A novel mutation in the LHX3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations
    • doi:10.1210/jc.2008-0325
    • Kristrom B, Zdunek AM, Rydh A, Jonsson H, Sehlin P & Escher SA 2009 A novel mutation in the LHX3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations. Journal of Clinical Endocrinology and Metabolism 94 1154-1161. (doi:10.1210/jc.2008-0325)
    • (2009) Journal of Clinical Endocrinology and Metabolism , vol.94 , pp. 1154-1161
    • Kristrom, B.1    Zdunek, A.M.2    Rydh, A.3    Jonsson, H.4    Sehlin, P.5    Escher, S.A.6
  • 31
    • 4243198352 scopus 로고    scopus 로고
    • Regulation of Otx2 expression and its functions in mouse forebrain andmidbrain
    • doi:10. 1242/dev.01220
    • Kurokawa D, Kiyonari H, Nakayama R, Kimura-Yoshida C, Matsuo I & Aizawa S 2004 Regulation of Otx2 expression and its functions in mouse forebrain andmidbrain. Development 131 3319-3331. (doi:10. 1242/dev.01220)
    • (2004) Development , vol.131 , pp. 3319-3331
    • Kurokawa, D.1    Kiyonari, H.2    Nakayama, R.3    Kimura-Yoshida, C.4    Matsuo, I.5    Aizawa, S.6
  • 33
    • 0037154765 scopus 로고    scopus 로고
    • cDNA cloning, chromosomal localization and expression pattern analysis of human LIM-homeobox gene LHX4
    • doi:10.1016/S0006-8993(01)03243-7
    • Liu Y, Fan M, Yu S, Zhou Y, Wang J, Yuan J & Qiang B 2002 cDNA cloning, chromosomal localization and expression pattern analysis of human LIM-homeobox gene LHX4. Brain Research 928 147-155. (doi:10.1016/S0006-8993(01)03243-7)
    • (2002) Brain Research , vol.928 , pp. 147-155
    • Liu, Y.1    Fan, M.2    Yu, S.3    Zhou, Y.4    Wang, J.5    Yuan, J.6    Qiang, B.7
  • 34
    • 24344466913 scopus 로고    scopus 로고
    • Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects
    • doi:10.1210/jc.2004-2332
    • Machinis K & Amselem S 2005 Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. Journal of Clinical Endocrinology and Metabolism 90 5456-5462. (doi:10.1210/jc.2004-2332)
    • (2005) Journal of Clinical Endocrinology and Metabolism , vol.90 , pp. 5456-5462
    • Machinis, K.1    Amselem, S.2
  • 36
    • 17744372520 scopus 로고    scopus 로고
    • Mouse GnRH receptor gene expression is mediated by the LHX3 homeodomain protein
    • doi:10.1210/ en.2004-1566
    • McGillivray SM, Bailey JS, Ramezani R, Kirkwood BJ & Mellon PL 2005 Mouse GnRH receptor gene expression is mediated by the LHX3 homeodomain protein. Endocrinology 146 2180-2185. (doi:10.1210/ en.2004-1566)
    • (2005) Endocrinology , vol.146 , pp. 2180-2185
    • McGillivray, S.M.1    Bailey, J.S.2    Ramezani, R.3    Kirkwood, B.J.4    Mellon, P.L.5
  • 44
    • 14544308775 scopus 로고    scopus 로고
    • Pituitary hormone deficiencies due to transcription factor gene alterations
    • doi:10.1016/j.ghir. 2004.07.001
    • Reynaud R, Saveanu A, Barlier A, Enjalbert A & Brue T 2004 Pituitary hormone deficiencies due to transcription factor gene alterations. Growth Hormone & IGF Research 14 442-448. (doi:10.1016/j.ghir. 2004.07.001)
    • (2004) Growth Hormone & IGF Research , vol.14 , pp. 442-448
    • Reynaud, R.1    Saveanu, A.2    Barlier, A.3    Enjalbert, A.4    Brue, T.5
  • 46
    • 0344392285 scopus 로고    scopus 로고
    • Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
    • doi:10.1073/pnas.2235734100
    • Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A & Muenke M 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. PNAS 100 13424-13429. (doi:10.1073/pnas.2235734100)
    • (2003) PNAS , vol.100 , pp. 13424-13429
    • Roessler, E.1    Du, Y.Z.2    Mullor, J.L.3    Casas, E.4    Allen, W.P.5    Gillessen-Kaesbach, G.6    Roeder, E.R.7    Ming, J.E.8    Ruizi Altaba, A.9    Muenke, M.10
  • 47
    • 0025735101 scopus 로고
    • POU-domain transcription factors: Pou-er-ful developmental regulators
    • doi:10.1101/gad.5.6.897
    • Rosenfeld MG 1991 POU-domain transcription factors: pou-er-ful developmental regulators. Genes and Development 5 897-907. (doi:10.1101/gad.5.6.897)
    • (1991) Genes and Development , vol.5 , pp. 897-907
    • Rosenfeld, M.G.1
  • 50
  • 51
    • 0037155604 scopus 로고    scopus 로고
    • Pituitary development: Regulatory codes in mammalian organogenesis
    • doi:10. 1126/science.1062736
    • Scully KM & Rosenfeld MG 2002 Pituitary development: regulatory codes in mammalian organogenesis. Science 295 2231-2235. (doi:10. 1126/science.1062736)
    • (2002) Science , vol.295 , pp. 2231-2235
    • Scully, K.M.1    Rosenfeld, M.G.2
  • 53
    • 0033307520 scopus 로고    scopus 로고
    • Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties
    • doi:10.1210/me.13.12.2212
    • Sloop KW, Meier BC, Bridwell JL, Parker GE, Schiller AM & Rhodes SJ 1999 Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties. Molecular Endocrinology 13 2212-2225. (doi:10.1210/me.13.12.2212)
    • (1999) Molecular Endocrinology , vol.13 , pp. 2212-2225
    • Sloop, K.W.1    Meier, B.C.2    Bridwell, J.L.3    Parker, G.E.4    Schiller, A.M.5    Rhodes, S.J.6
  • 54
    • 0035965341 scopus 로고    scopus 로고
    • An isoform-specific inhibitory domain regulates the LHX3 LIM homeodomain factor holoprotein and the production of a functional alternate translation form
    • doi:10.1074/jbc. M103888200
    • Sloop KW, Dwyer CJ & Rhodes SJ 2001 An isoform-specific inhibitory domain regulates the LHX3 LIM homeodomain factor holoprotein and the production of a functional alternate translation form. Journal of Biological Chemistry 276 36311-36319. (doi:10.1074/jbc. M103888200)
    • (2001) Journal of Biological Chemistry , vol.276 , pp. 36311-36319
    • Sloop, K.W.1    Dwyer, C.J.2    Rhodes, S.J.3
  • 56
    • 33751514546 scopus 로고    scopus 로고
    • Novel HESX1 mutations associated with a lifethreatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities
    • doi:10.1210/jc.2006-0426
    • Sobrier ML, Maghnie M, Vie-Luton MP, Secco A, di Iorgi N, Lorini R & Amselem S 2006 Novel HESX1 mutations associated with a lifethreatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities. Journal of Clinical Endocrinology and Metabolism 91 4528-4536. (doi:10.1210/jc.2006-0426)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , pp. 4528-4536
    • Sobrier, M.L.1    Maghnie, M.2    Vie-Luton, M.P.3    Secco, A.4    di Iorgi, N.5    Lorini, R.6    Amselem, S.7
  • 57
  • 59
    • 0037238607 scopus 로고    scopus 로고
    • Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient
    • doi:10.1210/jc.2002-020818
    • Tajima T, Hattorri T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J & Fujieda K 2003 Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. Journal of Clinical Endocrinology and Metabolism 88 45-50. (doi:10.1210/jc.2002-020818)
    • (2003) Journal of Clinical Endocrinology and Metabolism , vol.88 , pp. 45-50
    • Tajima, T.1    Hattorri, T.2    Nakajima, T.3    Okuhara, K.4    Sato, K.5    Abe, S.6    Nakae, J.7    Fujieda, K.8
  • 60
    • 77954882469 scopus 로고    scopus 로고
    • A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency
    • doi:10.1055/s-0029-1225612
    • Tajima T, Yorifuji T, Ishizu K & Fujieda K 2009a A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency. Experimental and Clinical Endocrinology & Diabetes 118 405-409. (doi:10.1055/s-0029-1225612)
    • (2009) Experimental and Clinical Endocrinology & Diabetes , vol.118 , pp. 405-409
    • Tajima, T.1    Yorifuji, T.2    Ishizu, K.3    Fujieda, K.4
  • 61
    • 58149383817 scopus 로고    scopus 로고
    • OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary
    • doi:10.1210/jc.2008-1219
    • Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K & Fujieda K 2009b OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. Journal of Clinical Endocrinology andMetabolism 94 314-319. (doi:10.1210/jc.2008-1219)
    • (2009) Journal of Clinical Endocrinology andMetabolism , vol.94 , pp. 314-319
    • Tajima, T.1    Ohtake, A.2    Hoshino, M.3    Amemiya, S.4    Sasaki, N.5    Ishizu, K.6    Fujieda, K.7
  • 62
    • 0026849691 scopus 로고
    • Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene
    • doi:10.1038/ng0492-56
    • Tatsumi K, Miyai K, Notomi T, Kaibe K, Amino N, Mizuno Y & Kohno H 1992 Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nature Genetics 1 56-58. (doi:10.1038/ng0492-56)
    • (1992) Nature Genetics , vol.1 , pp. 56-58
    • Tatsumi, K.1    Miyai, K.2    Notomi, T.3    Kaibe, K.4    Amino, N.5    Mizuno, Y.6    Kohno, H.7
  • 63
    • 0030292996 scopus 로고    scopus 로고
    • Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo
    • doi:10.1016/S0960-9822(96)00753-1
    • Thomas P & Beddington R 1996 Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo. Current Biology 6 1487-1496. (doi:10.1016/S0960-9822(96)00753-1)
    • (1996) Current Biology , vol.6 , pp. 1487-1496
    • Thomas, P.1    Beddington, R.2
  • 65
    • 22044451892 scopus 로고    scopus 로고
    • Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)
    • doi:10.1111/j.1365-2265.2005.02291.x
    • Turton JP, Mehta A, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Eunice M, Ammini AC et al. 2005a Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). Clinical Endocrinology 63 10-18. (doi:10.1111/j.1365-2265.2005.02291.x)
    • (2005) Clinical Endocrinology , vol.63 , pp. 10-18
    • Turton, J.P.1    Mehta, A.2    Raza, J.3    Woods, K.S.4    Tiulpakov, A.5    Cassar, J.6    Chong, K.7    Thomas, P.Q.8    Eunice, M.9    Ammini, A.C.10
  • 71
    • 33749316349 scopus 로고    scopus 로고
    • Sustained notch signaling in progenitors is required for sequential emergence of distinct cell lineages during organogenesis
    • doi:10.1101/gad.1444706
    • Zhu X, Zhang J, Tollkuhn J, Ohsawa R, Bresnick EH, Guillemot F, Kageyama R & Rosenfeld MG 2006 Sustained notch signaling in progenitors is required for sequential emergence of distinct cell lineages during organogenesis. Genes and Development 20 2739-2753. (doi:10.1101/gad.1444706)
    • (2006) Genes and Development , vol.20 , pp. 2739-2753
    • Zhu, X.1    Zhang, J.2    Tollkuhn, J.3    Ohsawa, R.4    Bresnick, E.H.5    Guillemot, F.6    Kageyama, R.7    Rosenfeld, M.G.8
  • 72
    • 36749011176 scopus 로고    scopus 로고
    • Signaling and epigenetic regulation of pituitary development
    • doi:10.1016/j.ceb.2007.09.011
    • Zhu X, Wang J, Ju BG & Rosenfeld MG 2007 Signaling and epigenetic regulation of pituitary development. Current Opinion in Cell Biology 19 605-611. (doi:10.1016/j.ceb.2007.09.011)
    • (2007) Current Opinion in Cell Biology , vol.19 , pp. 605-611
    • Zhu, X.1    Wang, J.2    Ju, B.G.3    Rosenfeld, M.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.