Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. (Q37441075)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author

Ana-Maria Oprişoreanu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Guenter Fritz

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Joerg Wenzel

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Christina Fagerberg

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Anette Bygum

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

19

Susanne Schoch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

F Buket Basmanav

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Sandra M Pasternack

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Holger Thiele

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Leopold Größer

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Maria Wehner

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Sabrina Wolf

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Janine Altmüller

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Arno Rütten

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Laurent Parmentier

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Laila El Shabrawi-Caelen

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Christian Hafner

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Roland Kruse

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Sandra Hanneken

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Regina C Betz

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Peter Nürnberg

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

language of work or name

English

0 references

publication date

1 January 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

135-143

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease

4 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Association of β-defensin copy number and psoriasis in three cohorts of European origin.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Regulation of mammalian Notch signaling and embryonic development by the protein O-glucosyltransferase Rumi

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Role of glycosylation of Notch in development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Comparative protein structure modeling using Modeller

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Rumi is a CAP10 domain glycosyltransferase that modifies Notch and is required for Notch signaling.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Galli-Galli disease: A case report with review of the literature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Notch signaling: its role in epidermal homeostasis and in the pathogenesis of skin diseases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Notch signaling via Hes1 transcription factor maintains survival of melanoblasts and melanocyte stem cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

The HHpred interactive server for protein homology detection and structure prediction

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Coot: model-building tools for molecular graphics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Notch signaling is a direct determinant of keratinocyte growth arrest and entry into differentiation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Comparative protein structure modeling of genes and genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

T4 phage beta-glucosyltransferase: substrate binding and proposed catalytic mechanism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Comparative protein modelling by satisfaction of spatial restraints

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Novel function of keratins 5 and 14 in proliferation and differentiation of stratified epithelial cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Selective use of ADAM10 and ADAM17 in activation of Notch1 signaling

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

A novel heterozygous nonsense mutation of keratin 5 in a Chinese family with Dowling-Degos disease.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

hCLP46 regulates U937 cell proliferation via Notch signaling pathway.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Generalized solar lentigines in a patient with a history of radon exposure

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

2 September 2018

Acanthosis Nigricans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Melanoblasts' proper location and timed differentiation depend on Notch/RBP-J signaling in postnatal hair follicles

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Notch1 and Notch2 receptors influence progressive hair graying in a dose-dependent manner.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882728

Galli-Galli disease is an acantholytic variant of Dowling-Degos disease

3 December 2018

1 reference

12 December 2020

Enhanced type I interferon signalling promotes Th1-biased inflammation in cutaneous lupus erythematosus

1 reference

12 December 2020

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

1 reference

12 December 2020

Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation

1 reference

12 December 2020

ORIGINAL ARTICLE: Both Notch1 and Notch2 contribute to the regulation of melanocyte homeostasis

1 reference

12 December 2020

A gene locus responsible for reticulate pigmented anomaly of the flexures maps to chromosome 17p13.3.

1 reference

12 December 2020

[Reticulated pigmentary dermatosis of the folds: relation to acanthosis nigricans]

1 reference

12 December 2020

Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family

1 reference

12 December 2020

10.1016/J.AJHG.2013.12.003

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24387993%20AND%20SRC:MED&resulttype=core&format=json