The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex
about
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanismMutations of the AAAS gene in an Indian family with Allgrove's syndromeRecessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.Decreased Expression of a Gene Caused by a T-DNA Insertion in an Adjacent Gene in Arabidopsis.Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome.Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.Analysis of the Lotus japonicus nuclear pore NUP107-160 subcomplex reveals pronounced structural plasticity and functional redundancy.Triple A (Allgrove) syndrome: an unusual association with syringomyelia.Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.AAA Syndrome, Case Report of a Rare Disease.Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology.Mutations in CRLF1 cause familial achalasia.Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report.X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?
P2860
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P2860
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex
description
2004 nî lūn-bûn
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2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2004年の論文
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2004年学术文章
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The triple A syndrome is due t ...... er of the nuclear pore complex
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The triple A syndrome is due t ...... er of the nuclear pore complex
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The triple A syndrome is due t ...... er of the nuclear pore complex
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The triple A syndrome is due t ...... er of the nuclear pore complex
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The triple A syndrome is due t ...... er of the nuclear pore complex
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The triple A syndrome is due t ...... er of the nuclear pore complex
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The triple A syndrome is due t ...... er of the nuclear pore complex
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The triple A syndrome is due t ...... er of the nuclear pore complex
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P2093
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The triple A syndrome is due t ...... er of the nuclear pore complex
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P2093
A M Kaindl
Angela Huebner
K P Knobeloch
P2860
P304
P3181
P356
10.1081/ERC-200044138
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P50
P577
2004-11-01T00:00:00Z