메뉴 건너뛰기




Volumn 118, Issue 7, 2010, Pages 405-409

A novel mutation (V101A) of the LHX4 gene in a Japanese patient with combined pituitary hormone deficiency

Author keywords

combined pituitary hormone deficiency (CPHD); LHX4; LIM domain

Indexed keywords

GENOMIC DNA; LHX4 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; ADENOHYPOPHYSIS HORMONE; FOLLITROPIN BETA SUBUNIT; GROWTH HORMONE; HOMEODOMAIN PROTEIN; HYDROCORTISONE; LHX4 PROTEIN, HUMAN; LIM HOMEODOMAIN PROTEIN; NEUROHYPOPHYSIS HORMONE; POU1F1 PROTEIN, HUMAN; TESTOSTERONE; THYROXINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PIT 1;

EID: 77954882469     PISSN: 09477349     EISSN: 14393646     Source Type: Journal    
DOI: 10.1055/s-0029-1225612     Document Type: Article
Times cited : (23)

References (20)
  • 1
    • 33644823897 scopus 로고    scopus 로고
    • Clinical case seminar: A novel LHX3 mutation presenting as combined pituitary hormonal deficiency
    • Bhangoo AP et al. Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency. J Clin Endocrinol Metab 2006 91 747-753
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 747-753
    • Bhangoo, A.P.1
  • 2
    • 47549088662 scopus 로고    scopus 로고
    • A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism
    • Castinetti F et al. A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism. J Clin Endocrinol Metab 2008 93 2790-2799
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 2790-2799
    • Castinetti, F.1
  • 3
    • 0035992791 scopus 로고    scopus 로고
    • Genetic defects in the development and function of the anterior pituitary gland
    • Cushman LJ et al. Genetic defects in the development and function of the anterior pituitary gland. Ann Med 2002 34 179-191
    • (2002) Ann Med , vol.34 , pp. 179-191
    • Cushman, L.J.1
  • 4
    • 0034607996 scopus 로고    scopus 로고
    • Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors
    • Howard PW, Maurer RA. Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors. J Biol Chem 2000 275 13336-13342
    • (2000) J Biol Chem , vol.275 , pp. 13336-13342
    • Howard, P.W.1    Maurer, R.A.2
  • 5
    • 0035376978 scopus 로고    scopus 로고
    • A point mutation in the LIM domain of LHX3 reduces activation of the glycoprotein hormone alpha subunit promoter
    • Howard PW, Maurer RA. A point mutation in the LIM domain of LHX3 reduces activation of the glycoprotein hormone alpha subunit promoter. J Biol Chem 2001 276 19020-19026
    • (2001) J Biol Chem , vol.276 , pp. 19020-19026
    • Howard, P.W.1    Maurer, R.A.2
  • 6
    • 33847171542 scopus 로고    scopus 로고
    • The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism
    • Kelberman D, Dattani MT. The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. Ann Med 2006 38 560-577
    • (2006) Ann Med , vol.38 , pp. 560-577
    • Kelberman, D.1    Dattani, M.T.2
  • 7
    • 0034760533 scopus 로고    scopus 로고
    • Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4
    • Machinis K et al. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet 2001 69 961-968
    • (2001) Am J Hum Genet , vol.69 , pp. 961-968
    • MacHinis, K.1
  • 8
    • 24344466913 scopus 로고    scopus 로고
    • Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects
    • Machinis K, Amselem S. Functional relationship between LHX4 and POU1F1 in light of the LHX4 mutation identified in patients with pituitary defects. J Clin Endocrinol Metab 2005 90 5456-5462
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 5456-5462
    • MacHinis, K.1    Amselem, S.2
  • 9
    • 33847042675 scopus 로고    scopus 로고
    • Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development
    • Mullen RD et al. Roles of the LHX3 and LHX4 LIM-homeodomain factors in pituitary development. Mol Cell Endocrinol 2007 265 190-195
    • (2007) Mol Cell Endocrinol , vol.265 , pp. 190-195
    • Mullen, R.D.1
  • 10
    • 0034040904 scopus 로고    scopus 로고
    • Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
    • Netchine I et al. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet 2000 5 182-186
    • (2000) Nat Genet , vol.5 , pp. 182-186
    • Netchine, I.1
  • 11
    • 0034458085 scopus 로고    scopus 로고
    • Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1
    • Osorio MG et al. Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. J Clin Endocrinol Metab 2000 85 2779-2785
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 2779-2785
    • Osorio, M.G.1
  • 12
    • 0029787845 scopus 로고    scopus 로고
    • A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency
    • Pellegrini-Bouiller I et al. A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab 1996 81 2790-2796
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 2790-2796
    • Pellegrini-Bouiller, I.1
  • 13
    • 40849095909 scopus 로고    scopus 로고
    • Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies
    • Pfaeffle RW et al. Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. J Clin Endocrinol Metab 2008 93 1062-1071
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 1062-1071
    • Pfaeffle, R.W.1
  • 14
    • 0026767630 scopus 로고
    • A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency
    • Radovick S et al. A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. Science 1992 257 1115-1118
    • (1992) Science , vol.257 , pp. 1115-1118
    • Radovick, S.1
  • 15
    • 0036745788 scopus 로고    scopus 로고
    • LHX4 and Prop1 are required for cell survival and expansion of the pituitary primordial
    • Raetzman LT et al. LHX4 and Prop1 are required for cell survival and expansion of the pituitary primordial. Development 2002 129 4229-4239
    • (2002) Development , vol.129 , pp. 4229-4239
    • Raetzman, L.T.1
  • 16
    • 0034853603 scopus 로고    scopus 로고
    • Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation
    • Riepe FG et al. Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation. J Clin Endocrinol Metab 2001 86 4353-4357
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 4353-4357
    • Riepe, F.G.1
  • 17
    • 0030695926 scopus 로고    scopus 로고
    • Multistep control of pituitary organogenesis
    • Sheng HZ et al. Multistep control of pituitary organogenesis. Science 1997 278 1809-1812
    • (1997) Science , vol.278 , pp. 1809-1812
    • Sheng, H.Z.1
  • 18
    • 34548696653 scopus 로고    scopus 로고
    • A novel missense mutation (P366 T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica
    • Tajima T et al. A novel missense mutation (P366 T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. Endocr J 2007 54 637-641
    • (2007) Endocr J , vol.54 , pp. 637-641
    • Tajima, T.1
  • 19
    • 9244242537 scopus 로고    scopus 로고
    • Regulation of the follicle-stimulating hormone beta gene by the LHX3 LIM-homeodomain transcription factor
    • West BE et al. Regulation of the follicle-stimulating hormone beta gene by the LHX3 LIM-homeodomain transcription factor. Endocrinology 2004 145 4866-4879
    • (2004) Endocrinology , vol.145 , pp. 4866-4879
    • West, B.E.1
  • 20
    • 0031571641 scopus 로고    scopus 로고
    • LHX4, a LIM homeobox gene
    • Yamashita T et al. LHX4, a LIM homeobox gene. Genomics 1997 44 144-146
    • (1997) Genomics , vol.44 , pp. 144-146
    • Yamashita, T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.