Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.

Item

http://www.wikidata.org/entity/Q52150565

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh-hant

name

Degree of Cajal-Retzius Cell M ...... Models of Dystroglycanopathy.

@en

Degree of Cajal-Retzius Cell M ...... Models of Dystroglycanopathy.

@nl

type

Item

label

Degree of Cajal-Retzius Cell M ...... Models of Dystroglycanopathy.

@en

Degree of Cajal-Retzius Cell M ...... Models of Dystroglycanopathy.

@nl

prefLabel

Degree of Cajal-Retzius Cell M ...... Models of Dystroglycanopathy.

@en

Degree of Cajal-Retzius Cell M ...... Models of Dystroglycanopathy.

@nl

P1476

Degree of Cajal-Retzius Cell M ...... Models of Dystroglycanopathy.

@en

P2093

Helen S Booler

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

Josie L Williams

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

Mark Hopkinson

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

P2860

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

P304

465-478

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

P31

scholarly article

P356

10.1111/BPA.12306

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

P433

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

P478

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

P50

Sue Brown

P577

2015-08-26T00:00:00Z

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

P698

26306834

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