메뉴 건너뛰기




Volumn 42, Issue 2, 2011, Pages 163-168

Mutation Spectra of the AAAS Gene in Iranian Families with Allgrove Syndrome

Author keywords

AAAS gene; Allgrove Syndrome; Iran; WD repeat gene

Indexed keywords

DNA;

EID: 79955742165     PISSN: 01884409     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcmed.2011.02.006     Document Type: Article
Times cited : (9)

References (12)
  • 1
    • 85128494156 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM), Center for Medical Genetics, Johns Hopkins University, and National Center for Biotechnology Information, National Library of Medicine
    • Bethesda, MD, URL:
    • Online Mendelian Inheritance in Man (OMIM), Center for Medical Genetics, Johns Hopkins University, and National Center for Biotechnology Information, National Library of Medicine. Bethesda, MD, URL: http://www.ncbi.nlm.nih.gov/omim.
  • 2
    • 0017845477 scopus 로고
    • Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
    • Allgrove J., Clayden G.S., Grant D.B., et al. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1978, 1:1284-1286.
    • (1978) Lancet , vol.1 , pp. 1284-1286
    • Allgrove, J.1    Clayden, G.S.2    Grant, D.B.3
  • 3
    • 0020522580 scopus 로고
    • Selective ACTH insensitivity, achalasia, and alacrima: a multisystem disorder presenting in childhood
    • Geffner M.E., Lippe B.M., Kaplan S.A., et al. Selective ACTH insensitivity, achalasia, and alacrima: a multisystem disorder presenting in childhood. Pediatr Res 1983, 17:532-536.
    • (1983) Pediatr Res , vol.17 , pp. 532-536
    • Geffner, M.E.1    Lippe, B.M.2    Kaplan, S.A.3
  • 4
    • 0028950105 scopus 로고
    • The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities
    • Gazarian M., Cowell C.T., Bonney M., et al. The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr 1995, 154:18-23.
    • (1995) Eur J Pediatr , vol.154 , pp. 18-23
    • Gazarian, M.1    Cowell, C.T.2    Bonney, M.3
  • 5
    • 0028348050 scopus 로고
    • Familial adrenal insufficiency, achalasia, alacrima, peripheral neuropathy, microcephaly, normal plasma very long chain fatty acids, and normal muscle mitochondrial respiratory chain enzymes
    • Tsao C.Y., Romshe C.A., Lo W.D., et al. Familial adrenal insufficiency, achalasia, alacrima, peripheral neuropathy, microcephaly, normal plasma very long chain fatty acids, and normal muscle mitochondrial respiratory chain enzymes. J Child Neurol 1994, 9:135-138.
    • (1994) J Child Neurol , vol.9 , pp. 135-138
    • Tsao, C.Y.1    Romshe, C.A.2    Lo, W.D.3
  • 6
    • 0029827345 scopus 로고    scopus 로고
    • Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster
    • Weber A., Wienker T.F., Jung M., et al. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet 1996, 5:2061-2066.
    • (1996) Hum Mol Genet , vol.5 , pp. 2061-2066
    • Weber, A.1    Wienker, T.F.2    Jung, M.3
  • 7
    • 0030769871 scopus 로고    scopus 로고
    • Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers
    • Stratakis C.A., Lin J.P., Pras E., et al. Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers. Proc Assoc Am Physicians 1997, 109:478-482.
    • (1997) Proc Assoc Am Physicians , vol.109 , pp. 478-482
    • Stratakis, C.A.1    Lin, J.P.2    Pras, E.3
  • 8
    • 0033763096 scopus 로고    scopus 로고
    • Mutant WD-repeat protein in triple-A syndrome
    • Tulliot-Pelet A., Salomon R., Hadj-Rabia S., et al. Mutant WD-repeat protein in triple-A syndrome. Nat Genet 2000, 26:332-335.
    • (2000) Nat Genet , vol.26 , pp. 332-335
    • Tulliot-Pelet, A.1    Salomon, R.2    Hadj-Rabia, S.3
  • 9
    • 0035253397 scopus 로고    scopus 로고
    • Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
    • Hanschug K., Sperling S., Yoon K.S.-J., et al. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 2001, 10:283-290.
    • (2001) Hum Mol Genet , vol.10 , pp. 283-290
    • Hanschug, K.1    Sperling, S.2    Yoon, K.S.-J.3
  • 10
    • 0024284028 scopus 로고
    • A simple salting out procesure for extracting DNA from human nucleated cell
    • Miller S.A., Dynes D.D., Polsky F. A simple salting out procesure for extracting DNA from human nucleated cell. Nucleic Acid Res 1988, 16:1215.
    • (1988) Nucleic Acid Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dynes, D.D.2    Polsky, F.3
  • 11
    • 17944382121 scopus 로고    scopus 로고
    • Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin
    • Sandrini F., Farmakidis C., Kirschner L.S., et al. Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin. J Clin Endocrinol Metab 2001, 86:5433-5437.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 5433-5437
    • Sandrini, F.1    Farmakidis, C.2    Kirschner, L.S.3
  • 12
    • 0036896407 scopus 로고    scopus 로고
    • Clinical and genetic characterization of families with triple A (Allgrove) syndrome
    • Houlden H., Smith S., De Carvalho M., et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain 2002, 125:2681-2690.
    • (2002) Brain , vol.125 , pp. 2681-2690
    • Houlden, H.1    Smith, S.2    De Carvalho, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.