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Volumn 85, Issue 1, 2016, Pages 18-21

Molecular analysis of libyan families with allgrove syndrome: Geographic expansion of the ancestral mutation c.1331+1G>A in North Africa

Author keywords

AAAS gene; Allgrove syndrome; c.1331+1G>A mutation; Founder effect; North Africa

Indexed keywords

ALDOSTERONE; CORTICOTROPIN; HYDROCORTISONE; AAAS PROTEIN, HUMAN; NERVE PROTEIN; NUCLEOPORIN;

EID: 84956802636     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000441653     Document Type: Article
Times cited : (9)

References (17)
  • 2
    • 0017845477 scopus 로고
    • Familial glucocorticoid deficiency with Achalasia of the cardia and deficient tear production
    • Allgrove J, Clayden GS, Grant DB, Macaulay JC. 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    Macaulay, J.C.4
  • 4
    • 0028950105 scopus 로고
    • The′4A-syndrome: Adrenocortical insufficiency associated with Achalasia, alacrima, autonomic and other neurological abnormalities
    • Gazarian M, Cowell CT, Bonney M, Grigor WG. 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    Grigor, W.G.4
  • 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 CY, Romshe CA, Lo WD, Wright FS, Sommer A. 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    Wright, F.S.4    Sommer, A.5
  • 7
    • 0035834037 scopus 로고    scopus 로고
    • Nuclear envelope proteomics: Novel integral membrane proteins of the inner nuclear membrane
    • Dreger M, Bengtsson L, Schoneberg T, Otto H, Hucho F. Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane. Proc Natl Acad Sci USA 2001; 98: 11943-11948
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 11943-11948
    • Dreger, M.1    Bengtsson, L.2    Schoneberg, T.3    Otto, H.4    Hucho, F.5
  • 8
    • 70350128228 scopus 로고    scopus 로고
    • The nuclear pore complex protein aladin is anchored via ndc1 but not via pom121 and gp210 in the nuclear envelope
    • Kind B, Koehler K, Lorenz M, Huebner A. The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. Biochem Biophys Res Commun 2009; 390: 205-210
    • (2009) Biochem Biophys Res Commun , vol.390 , pp. 205-210
    • Kind, B.1    Koehler, K.2    Lorenz, M.3    Huebner, A.4
  • 9
    • 33745368247 scopus 로고    scopus 로고
    • Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome-shedding light on an unexpected splice mutation
    • Krumbholz M, Koehler K, Huebner A. Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome-shedding light on an unexpected splice mutation. Biochem Cell Biol 2006; 84: 243-249
    • (2006) Biochem Cell Biol , vol.84 , pp. 243-249
    • Krumbholz, M.1    Koehler, K.2    Huebner, A.3
  • 12
    • 0026739796 scopus 로고
    • A simple method for DNA extraction from leukocytes for use in PCR
    • Lewin HA, Stewart-Haynes JA. A simple method for DNA extraction from leukocytes for use in PCR. Biotechniques 1992; 13: 522-524
    • (1992) Biotechniques , vol.13 , pp. 522-524
    • Lewin, H.A.1    Stewart-Haynes, J.A.2
  • 13
    • 11244262589 scopus 로고    scopus 로고
    • The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex
    • Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K. The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. Endocr Res 2004; 30: 891-899
    • (2004) Endocr Res , vol.30 , pp. 891-899
    • Huebner, A.1    Kaindl, A.M.2    Knobeloch, K.P.3    Petzold, H.4    Mann, P.5    Koehler, K.6
  • 14
    • 2942726191 scopus 로고    scopus 로고
    • Estimating the age of rare disease mutations: The example of triple-A syndrome
    • Genin E, Tullio-Pelet A, Begeot F, Lyonnet S, Abel L. Estimating the age of rare disease mutations: the example of triple-A syndrome. J Med Genet 2004; 41: 445-449
    • (2004) J Med Genet , vol.41 , pp. 445-449
    • Genin, E.1    Tullio-Pelet, A.2    Begeot, F.3    Lyonnet, S.4    Abel, L.5
  • 17
    • 79955742165 scopus 로고    scopus 로고
    • Mutation spectra of the AAAS gene in Iranian families with Allgrove syndrome
    • Yassaee VR, Soltani Z, Ardakani BM. Mutation spectra of the AAAS gene in Iranian families with Allgrove syndrome. Arch Med Res 2011; 42: 163-168
    • (2011) Arch Med Res , vol.42 , pp. 163-168
    • Yassaee, V.R.1    Soltani, Z.2    Ardakani, B.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.