A nationwide survey on Marinesco-Sjögren syndrome in Japan. - Wikidata - awgldk - TriplyDB

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

http://www.wikidata.org/entity/Q33614017

about

BiP and its nucleotide exchange factors Grp170 and Sil1: mechanisms of action and biological functions Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome An unexpected role for the yeast nucleotide exchange factor Sil1 as a reductant acting on the molecular chaperone BiP.Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders.Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

P2860

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P2860

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

http://www.wikidata.org/entity/Q33614017

description

2014 nî lūn-bûn

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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի ապրիլին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

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A nationwide survey on Marinesco-Sjögren syndrome in Japan.

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type

label

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

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A nationwide survey on Marinesco-Sjögren syndrome in Japan.

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prefLabel

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

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A nationwide survey on Marinesco-Sjögren syndrome in Japan.

@en

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P1433

Orphanet Journal of Rare Diseases

P1476

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

@en

P2093

Hirofumi Komaki

http://www.w3.org/2001/XMLSchema#string

Ikuya Nonaka

http://www.w3.org/2001/XMLSchema#string

Kenji Sugai

http://www.w3.org/2001/XMLSchema#string

Mari Okada

http://www.w3.org/2001/XMLSchema#string

Masahide Goto

http://www.w3.org/2001/XMLSchema#string

Masayuki Sasaki

http://www.w3.org/2001/XMLSchema#string

Satoru Noguchi

http://www.w3.org/2001/XMLSchema#string

Yukiko K Hayashi

http://www.w3.org/2001/XMLSchema#string

P2860

Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Regulation of Hsp70 function by HspBP1: structural analysis reveals an alternate mechanism for Hsp70 nucleotide exchange

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.

Rapid cataract formation in Marinesco-Sjögren syndrome.

Linkage studies on Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.

Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome.

P2888

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58

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10.1186/1750-1172-9-58

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2014-04-23T00:00:00Z

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