Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

Journal of Medical Genetics

Volumn 52, Issue 9, 2015, Pages 636-641

  Weinberg Shukron, Ariella ^a,b   Abu Libdeh, Abdulsalam ^c   Zhadeh, Fouad ^d,e   Carmel, Liran ^d   Kogot Levin, Aviram ^c   Kamal, Lara ^e   Kanaan, Moien ^e   Zeligson, Sharon ^a   Renbaum, Paul ^a   Levy Lahad, Ephrat ^a,b   Zangen, David ^c  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b HEBREW UNIVERSITY   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^e BETHLEHEM UNIVERSITY   (Palestine)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; GLUCOCORTICOID; MINERALOCORTICOID; NICOTINAMIDE ADENINE DINUCLEOTIDE (PHOSPHATE) TRANSHYDROGENASE; REACTIVE OXYGEN METABOLITE; MINERALOCORTICOID RECEPTOR;

ADRENAL CORTEX INSUFFICIENCY; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; FAMILIAL GLUCOCORTICOID DEFICIENCY; FEMALE; FIBROBLAST; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; MINERALOCORTICOID DEFICIENCY; MITOCHONDRION; NEWBORN; OXIDATIVE STRESS; PALESTINIAN; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; ARAB; CONSANGUINITY; DEFICIENCY; DNA SEQUENCE; GENETICS; HOMOZYGOTE; METABOLISM; MUTATION; ULTRASTRUCTURE;

ARABS; CONSANGUINITY; GLUCOCORTICOIDS; HOMOZYGOTE; HUMANS; MINERALOCORTICOIDS; MITOCHONDRIA; MUTATION; NADP TRANSHYDROGENASES; OXIDATIVE STRESS; RECEPTORS, MINERALOCORTICOID; SEQUENCE ANALYSIS, DNA;

EID: 84945478688     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103078     Document Type: Article

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