Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
about
Evaluation and diagnosis of the dysmorphic infantMutations in NOTCH1 cause Adams-Oliver syndromeHaploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesExtracellular o-linked N-acetylglucosamine is enriched in stem cells derived from human umbilical cord blood.Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome.Notch Signaling and the Skeleton.Significance of glycosylation in Notch signaling.Extracellular O-linked β-N-acetylglucosamine: Its biology and relationship to human disease.The multiple roles of epidermal growth factor repeat O-glycans in animal development.Mapping Sites of O-Glycosylation and Fringe Elongation on Drosophila Notch.EOGT and O-GlcNAc on secreted and membrane proteins.Notch Signaling in Development, Tissue Homeostasis, and Disease.A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.Congenital diseases caused by defective -glycosylation of Notch receptors
P2860
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P2860
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
description
2014 nî lūn-bûn
@nan
2014 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մարտին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
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2014年论文
@wuu
name
Autosomal recessive Adams-Oliv ...... -specific O-GlcNAc transferase
@ast
Autosomal recessive Adams-Oliv ...... -specific O-GlcNAc transferase
@en
Autosomal recessive Adams-Oliv ...... -specific O-GlcNAc transferase
@nl
type
label
Autosomal recessive Adams-Oliv ...... -specific O-GlcNAc transferase
@ast
Autosomal recessive Adams-Oliv ...... -specific O-GlcNAc transferase
@en
Autosomal recessive Adams-Oliv ...... -specific O-GlcNAc transferase
@nl
prefLabel
Autosomal recessive Adams-Oliv ...... -specific O-GlcNAc transferase
@ast
Autosomal recessive Adams-Oliv ...... -specific O-GlcNAc transferase
@en
Autosomal recessive Adams-Oliv ...... -specific O-GlcNAc transferase
@nl
P2093
P2860
P356
P1476
Autosomal recessive Adams-Oliv ...... -specific O-GlcNAc transferase
@en
P2093
Daniella Landau
Eldad Silberstein
Ginat Narkis
Idan Cohen
Khalil Elbedour
Michael Volodarsky
Ohad S Birk
Rotem Kadir
Sara Sivan
Yonatan Perez
P2860
P2888
P356
10.1038/EJHG.2013.159
P407
P577
2014-03-01T00:00:00Z
P6179
1022756109