Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. - Wikidata - awgldk - TriplyDB

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

http://www.wikidata.org/entity/Q37441075

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Mutation of POC1B in a severe syndromic retinal ciliopathy Multi-label multi-instance transfer learning for simultaneous reconstruction and cross-talk modeling of multiple human signaling pathways Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2 A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammals Analysis of POFUT1 gene mutation in a Chinese family with Dowling-Degos disease Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes.Structural analysis of Notch-regulating Rumi reveals basis for pathogenic mutations.Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease Significance of glycosylation in Notch signaling.Discovery in genetic skin disease: the impact of high throughput genetic technologies The multiple roles of epidermal growth factor repeat O-glycans in animal development.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Membrane dynamics in mammalian embryogenesis: Implication in signal regulation.What Have We Learned from Glycosyltransferase Knockouts in Mice?Updated review of genetic reticulate pigmentary disorders.EOGT and O-GlcNAc on secreted and membrane proteins.What is new in CDG?A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.The Varied Roles of Notch in Cancer.TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)Structural basis of Notch O-glucosylation and O-xylosylation by mammalian protein-O-glucosyltransferase 1 (POGLUT1).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.A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.A path through the reticulate pigmentation disorder jungle.Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura.Dowling-Degos disease co-presenting with Darier disease.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.Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.Congenital diseases caused by defective -glycosylation of Notch receptors

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Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

http://www.wikidata.org/entity/Q37441075

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article científic

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scientific article published on January 2014

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Mutations in POGLUT1, encoding ...... ominant Dowling-Degos disease.

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Mutations in POGLUT1, encoding ...... ominant Dowling-Degos disease.

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type

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Mutations in POGLUT1, encoding ...... ominant Dowling-Degos disease.

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Mutations in POGLUT1, encoding ...... ominant Dowling-Degos disease.

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prefLabel

Mutations in POGLUT1, encoding ...... ominant Dowling-Degos disease.

@en

Mutations in POGLUT1, encoding ...... ominant Dowling-Degos disease.

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J.AJHG.2013.12.003

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American Journal of Human Genetics

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Mutations in POGLUT1, encoding ...... dominant Dowling-Degos disease

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Arno Rütten

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Christian Hafner

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F Buket Basmanav

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Holger Thiele

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Janine Altmüller

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Laila El Shabrawi-Caelen

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Laurent Parmentier

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Leopold Größer

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Maria Wehner

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Peter Nürnberg

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Cloning, expression and characterization of a novel human CAP10-like gene hCLP46 from CD34(+) stem/progenitor cells

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Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase

The HHpred interactive server for protein homology detection and structure prediction

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease

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High resolution crystal structures of T4 phage beta-glucosyltransferase: induced fit and effect of substrate and metal binding

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135-143

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10.1016/J.AJHG.2013.12.003

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1

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Christina Fagerberg

Ana-Maria Oprişoreanu

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2014-01-01T00:00:00Z

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