Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.

Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.

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http://www.wikidata.org/entity/Q40293550
Analyzing effects of naturally occurring missense mutationsRole of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesisTriple A syndrome mimicking ALS.Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanismOxidative stress and adrenocortical insufficiency.Predicting the functional impact of protein mutations: application to cancer genomicsThe nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.Predicting potentially functional SNPs in drug-response genes.Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.Triple A syndrome: two novel mutations in the AAAS gene.Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.Novel mutations in transthyretin gene associated with hepatocellular carcinoma.Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology.Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers
P2860

Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.

Item
http://www.wikidata.org/entity/Q40293550
description
2006 nî lūn-bûn
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2006年の論文
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2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
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2006年论文
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name
Cellular localization of 17 na ...... an unexpected splice mutation.
@en
type
label
Cellular localization of 17 na ...... an unexpected splice mutation.
@en
prefLabel
Cellular localization of 17 na ...... an unexpected splice mutation.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Cellular localization of 17 na ...... an unexpected splice mutation.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698