(Q46926225)

English

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability

scientific article published on 20 February 2014

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability (English)

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

0 references

congenital muscular dystrophy

1 reference

based on heuristic

inferred from title

author name string

Anja von Renesse

1

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

Mina V Petkova

2

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

Susanne Lützkendorf

3

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

Jan Heinemeyer

4

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

Esther Gill

5

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

Christoph Hübner

6

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

Arpad von Moers

7

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

Werner Stenzel

8

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

Markus Schuelke

9

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

language of work or name

0 references

publication date

20 February 2014

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

Journal of Medical Genetics

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

51

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

275-282

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

4

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

Pikachurin interaction with dystroglycan is diminished by defective O-mannosyl glycosylation in congenital muscular dystrophy models and rescued by LARGE overexpression

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Cloning, expression and characterization of the pig liver GDP-mannose pyrophosphorylase

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Physical and functional association of human protein O-mannosyltransferases 1 and 2.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Characterization of two splice variants of human organic anion transporting polypeptide 3A1 isolated from human brain

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Plectin 1f scaffolding at the sarcolemma of dystrophic (mdx) muscle fibers through multiple interactions with beta-dystroglycan.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Congenital hydrocephalus in genetically engineered mice

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Plectin interacts with the rod domain of type III intermediate filament proteins desmin and vimentin

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Sarcolemma instability during mechanical activity in Largemyd cardiac myocytes with loss of dystroglycan extracellular matrix receptor function

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscle

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-102236

21 January 2018

Identifiers

10.1136/JMEDGENET-2013-102236

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

1 reference

Europe PubMed Central

26 December 2017

http://europepmc.org/abstract/MED/24556084

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q46926225&oldid=2138008209"