Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease
about
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos diseaseHeterozygous frameshift mutation in keratin 5 in a family with Galli-Galli diseaseThe First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian FamilyThe biology of hyperpigmentation syndromes.Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Skin manifestations in CDG.Significance of glycosylation in Notch signaling.Discovery in genetic skin disease: the impact of high throughput genetic technologiesThe multiple roles of epidermal growth factor repeat O-glycans in animal development.What Have We Learned from Glycosyltransferase Knockouts in Mice?Updated review of genetic reticulate pigmentary disorders.Biological functions of fucose in mammals.Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.O-Glycosylation modulates the stability of epidermal growth factor-like repeats and thereby regulates Notch trafficking.Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.A bio-inspired computing model for ovarian carcinoma classification and oncogene detection.A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.Recognition of EGF-like domains by the Notch-modifying O-fucosyltransferase POFUT1.A path through the reticulate pigmentation disorder jungle.Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination.Report of a child with sporadic familial progressive hyper- and hypopigmentation caused by a novel KITLG mutation.POFUT1 promotes colorectal cancer development through the activation of Notch1 signalingCongenital diseases caused by defective -glycosylation of Notch receptors
P2860
Q29347528-CCAF1BB0-0DEF-4682-B141-EDA244575257Q34089476-6F8ABDC6-3342-4020-B173-67B550D55878Q34114270-D24BCF34-ED7D-4E83-AABC-AEE39C47E681Q34229175-E6B3DE48-C2D5-43DE-94C1-874F1807DF55Q34409196-D1949853-0E10-447C-A434-37330A95A03EQ37418909-95AAF546-62A4-472E-94F7-2EFDD36D3EDEQ37441075-0B4B4F19-86FB-4628-9092-C5007E3B34BFQ38186249-7F7BD183-5EBE-4689-BA18-7D59FCA030C1Q38189728-4670E73D-0B08-4B71-92D2-96C46BFD2CABQ38218592-B09C0E9C-8751-4073-9FC0-E4D7FF011901Q38237121-F3207C1F-14D2-4E6B-9E6B-9CB52925CC66Q38547337-E586D045-85A6-4A2F-92C3-88971C6B775FQ38796983-96F29BD2-8F7F-4D0A-AD47-555206B541C1Q39240567-6466F147-70CC-4AD3-94C0-47F4F9165FC4Q39254939-D69FDCBA-835B-4CB1-B997-21597C42BE70Q40296942-3C0EFB22-C708-449D-8EC9-3161F93A2155Q41685413-5DF08A10-6A71-452C-8E4F-96F2AAF5D203Q42320087-5FA08760-5386-470C-BBC1-475B971296A5Q45138496-12A1BE63-1D97-4172-9FFE-E6B4C09B466CQ47229557-7899E6D4-C60B-4EC4-93BB-EEA7F35BCD10Q47706194-46A4AEA0-E5F5-4F9E-8726-7D74C7E3E40AQ47785002-8770B1B0-0DAA-449E-BEA6-737C01B77A6FQ48116401-8FD98F59-08BB-4C45-98F5-9E76078349A3Q48156171-8838A91E-CD63-4753-AD31-ADD1E0DC9767Q49382946-3C8E5E4B-32F8-4FDA-B729-79471CC139FCQ49922672-F41BBC58-C934-4C67-8F84-37F2794B3883Q51472303-39E674FB-66AC-41FF-8D0B-27AF232EC9F4Q53116624-E5A6151E-AA38-40BF-8601-6D3F616714E6Q58700523-63541EED-E3A6-4C24-9726-0132A4CA51A5Q58804709-9A4DC50F-39FA-433E-87C7-B6969986F7C5
P2860
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Mutations in POFUT1, encoding ...... eralized Dowling-Degos disease
@en
type
label
Mutations in POFUT1, encoding ...... eralized Dowling-Degos disease
@en
prefLabel
Mutations in POFUT1, encoding ...... eralized Dowling-Degos disease
@en
P2093
P2860
P1476
Mutations in POFUT1, encoding ...... eralized Dowling-Degos disease
@en
P2093
Chengrang Li
Jianhui He
Jianying Liang
Lijia Yang
P2860
P304
P356
10.1016/J.AJHG.2013.04.022
P407
P577
2013-05-16T00:00:00Z