(Q36439344)

14 August 2017

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

1 reference

Protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

14 August 2017

0 references

1 reference

GOA release 2020-03-11

Thomas M Maynard

5

0 references

Mustafa A. Salih

Mustafa A Salih

16

0 references

Alan H. Beggs

Alan H Beggs

20

0 references

Marina Mora

Marina Mora

19

0 references

Jan M Friedman

Jan M Friedman

15

0 references

Stacey Gabriel

21

Stacey B Gabriel

1 reference

14 August 2017

18

Isabella Moroni

1 reference

14 August 2017

22

Christopher A Walsh

1 reference

14 August 2017

7

Kevin V Shianna

1 reference

14 August 2017

6

Erin L Heinzen

1 reference

14 August 2017

M Chiara Manzini

1

1 reference

14 August 2017

Dimira E Tambunan

2

1 reference

14 August 2017

R Sean Hill

3

1 reference

14 August 2017

Tim W Yu

4

1 reference

14 August 2017

Christine R Stevens

8

1 reference

14 August 2017

Jennifer N Partlow

9

1 reference

14 August 2017

Brenda J Barry

10

1 reference

14 August 2017

Jacqueline Rodriguez

11

1 reference

14 August 2017

Vandana A Gupta

12

1 reference

14 August 2017

Abdel-Karim Al-Qudah

13

1 reference

14 August 2017

Wafaa M Eyaid

14

1 reference

14 August 2017

Robin Clark

17

1 reference

14 August 2017

language of work or name

English

0 references

publication date

1 September 2012

1 reference

American Journal of Human Genetics

14 August 2017

1 reference

14 August 2017

91

1 reference

14 August 2017

3

1 reference

14 August 2017

541-547

1 reference

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Dystroglycanopathies: coming into focus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

What disorders of cortical development tell us about the cortex: one plus one does not always make two

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Zebrafish models for human FKRP muscular dystrophies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Exome sequencing identifies the cause of a mendelian disorder

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Dystroglycan: from biosynthesis to pathogenesis of human disease.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Diagnostic criteria for Walker-Warburg syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Protein O-mannosylation is necessary for normal embryonic development in zebrafish

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Genes required for functional glycosylation of dystroglycan are conserved in zebrafish

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Molecular heterogeneity in fetal forms of type II lissencephaly.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3512000

10.1016/J.AJHG.2012.07.009

21 September 2018

Identifiers

DOI

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

22958903

1 reference