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Volumn 10, Issue 1, 2015, Pages 69-72

Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess

Author keywords

Apparent mineralocorticoid excess; Arab; autosomal recessive; cystic fibrosis; Qatar

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE 2; CHLORIDE CHANNEL; CORTISONE; HYDROCORTISONE; MINERALOCORTICOID RECEPTOR;

EID: 84919968844     PISSN: 18171737     EISSN: 19983557     Source Type: Journal    
DOI: 10.4103/1817-1737.146892     Document Type: Article
Times cited : (9)

References (16)
  • 1
    • 33645103135 scopus 로고    scopus 로고
    • Consanguinity: Implications for practice, research, and policy
    • Teebi AS, El-Shanti HI. Consanguinity: Implications for practice, research, and policy. Lancet 2006;367:970-1.
    • (2006) Lancet , vol.367 , pp. 970-971
    • Teebi, A.S.1    El-Shanti, H.I.2
  • 2
    • 0031046241 scopus 로고    scopus 로고
    • 11beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess
    • White PC, Mune T, Agarwal AK. 11beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocr Rev 1997;18:135-56.
    • (1997) Endocr Rev , vol.18 , pp. 135-156
    • White, P.C.1    Mune, T.2    Agarwal, A.K.3
  • 3
    • 27744445759 scopus 로고    scopus 로고
    • Mendelian forms of human hypertension and mechanisms of disease
    • Luft FC. Mendelian forms of human hypertension and mechanisms of disease. Clin Med Res 2003;1:291-300.
    • (2003) Clin Med Res , vol.1 , pp. 291-300
    • Luft, F.C.1
  • 5
    • 0028034209 scopus 로고
    • Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme
    • Albiston AL, Obeyesekere VR, Smith RE, Krozowski ZS. Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type 2 enzyme. Mol Cell Endocrinol 1994;105:R11-7.
    • (1994) Mol Cell Endocrinol , vol.105 , pp. R11-R17
    • Albiston, A.L.1    Obeyesekere, V.R.2    Smith, R.E.3    Krozowski, Z.S.4
  • 6
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: Chromosome walking and jumping
    • Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, et al. Identification of the cystic fibrosis gene: Chromosome walking and jumping. Science 1989;245:1059-65.
    • (1989) Science , vol.245 , pp. 1059-1065
    • Rommens, J.M.1    Iannuzzi, M.C.2    Kerem, B.3    Drumm, M.L.4    Melmer, G.5    Dean, M.6
  • 7
    • 0030444810 scopus 로고    scopus 로고
    • Exclusion of corticosterone from epithelial mineralocorticoid receptors is insufficient for selectivity of aldosterone action: In vivo binding studies
    • Funder J, Myles K. Exclusion of corticosterone from epithelial mineralocorticoid receptors is insufficient for selectivity of aldosterone action: In vivo binding studies. Endocrinology 1996;137:5264-8.
    • (1996) Endocrinology , vol.137 , pp. 5264-5268
    • Funder, J.1    Myles, K.2
  • 8
    • 84872922814 scopus 로고    scopus 로고
    • Apparent mineralocorticoid excess syndrome: Report of one family with three affected children
    • Al-Harbi T, Al-Shaikh A. Apparent mineralocorticoid excess syndrome: Report of one family with three affected children. J Pediatr Endocrinol Metab 2012;25:1083-8.
    • (2012) J Pediatr Endocrinol Metab , vol.25 , pp. 1083-1088
    • Al-Harbi, T.1    Al-Shaikh, A.2
  • 10
    • 0034109607 scopus 로고    scopus 로고
    • Genotype and phenotype in cystic fibrosis
    • Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000;67:1170-33.
    • (2000) Respiration , vol.67 , pp. 1170-1233
    • Zielenski, J.1
  • 11
    • 0027530474 scopus 로고
    • Dysfunction of the placental glucocorticoid barrier: Link between fetal environmental and hypertension?
    • Edwards CR Benediktsson R, Lindsay RS, Seckl JR. Dysfunction of the placental glucocorticoid barrier: Link between fetal environmental and hypertension? Lancet 1993;341:355-7.
    • (1993) Lancet , vol.341 , pp. 355-357
    • Edwards, C.R.1    Benediktsson, R.2    Lindsay, R.S.3    Seckl, J.R.4
  • 12
    • 84865511140 scopus 로고    scopus 로고
    • Failure to down regulate the epithelial sodium channel causes salts sensitivity in hsd11b2 heterozygote mice
    • Craigie E, Evans LC, Mullins JJ, Bailey MA. Failure to down regulate the epithelial sodium channel causes salts sensitivity in hsd11b2 heterozygote mice. Hypertension 2012;60:684-90.
    • (2012) Hypertension , vol.60 , pp. 684-690
    • Craigie, E.1    Evans, L.C.2    Mullins, J.J.3    Bailey, M.A.4
  • 13
    • 79957909024 scopus 로고    scopus 로고
    • Apparent mineralocorticoid excess: Time of manifestation and complications despite treatment
    • Knops NB, Monnens LA, Lenders JW, Levtchenko EN. Apparent mineralocorticoid excess: Time of manifestation and complications despite treatment. Pediatrics 2011;127:e1610-4.
    • (2011) Pediatrics , vol.127 , pp. e1610-e1614
    • Knops, N.B.1    Monnens, L.A.2    Lenders, J.W.3    Levtchenko, E.N.4
  • 15
    • 84919968379 scopus 로고    scopus 로고
    • Mineralocorticoid Selectivity: Role of 11 βhSD2 and Other Mechanism
    • Paolo F, Zygmunt K. Mineralocorticoid Selectivity: Role of 11 βHSD2 and Other Mechanism. Kidney Int 2000;57:1374-81.
    • (2000) Kidney Int , vol.57 , pp. 1374-1381
    • Paolo, F.1    Zygmunt, K.2
  • 16
    • 23844516967 scopus 로고    scopus 로고
    • 11beta-Hydroxysteroid dehydrogenase and the pre-receptor regulation of corticosteroid hormone action
    • Draper N, Stewart PM. 11beta-Hydroxysteroid dehydrogenase and the pre-receptor regulation of corticosteroid hormone action. J Endocrinol 2005;186:251-71.
    • (2005) J Endocrinol , vol.186 , pp. 251-271
    • Draper, N.1    Stewart, P.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.