(Q47827432)

6 February 2018

title

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). (English)

1 reference

6 February 2018

lethal congenital contracture syndrome

main subject

0 references

Jennifer A Wambach

1

0 references

Mattia Bosio

object named as

Mattia Bosio

9

0 references

Stephan Ossowski

object named as

Stephan Ossowski

8

0 references

Dorothy K Grange

15

object named as

Dorothy K Grange

1 reference

6 February 2018

author name string

Georg M Stettner

2

1 reference

6 February 2018

Tobias B Haack

3

1 reference

6 February 2018

Karin Writzl

4

1 reference

6 February 2018

Andreja Škofljanec

5

1 reference

6 February 2018

Aleš Maver

6

1 reference

6 February 2018

Francina Munell

7

1 reference

6 February 2018

Daniel J Wegner

10

1 reference

6 February 2018

Marwan Shinawi

11

1 reference

6 February 2018

Dustin Baldridge

12

1 reference

6 February 2018

Bader Alhaddad

13

1 reference

6 February 2018

Tim M Strom

14

1 reference

6 February 2018

Ekkehard Wilichowski

16

1 reference

6 February 2018

Robin Troxell

17

1 reference

6 February 2018

James Collins

18

1 reference

6 February 2018

Barbara B Warner

19

1 reference

6 February 2018

Robert E Schmidt

20

1 reference

6 February 2018

Alan Pestronk

21

1 reference

6 February 2018

F Sessions Cole

22

1 reference

6 February 2018

Robert Steinfeld

23

1 reference

6 February 2018

publication date

20 July 2017

1 reference

6 February 2018

published in

Human Mutation

1 reference

6 February 2018

volume

38

1 reference

6 February 2018

issue

11

1 reference

6 February 2018

page(s)

1477-1484

1 reference

6 February 2018

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Arthrogryposis as a Syndrome: Gene Ontology Analysis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Analysis of protein-coding genetic variation in 60,706 humans

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

The olfactomedin domain from gliomedin is a β-propeller with unique structural properties.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

A general framework for estimating the relative pathogenicity of human genetic variants

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Antibodies to gliomedin cause peripheral demyelinating neuropathy and the dismantling of the nodes of Ranvier.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

A glial signal consisting of gliomedin and NrCAM clusters axonal Na+ channels during the formation of nodes of Ranvier

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

The Sequence Alignment/Map format and SAMtools

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Fast and accurate short read alignment with Burrows-Wheeler transform

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Gliomedin mediates Schwann cell-axon interaction and the molecular assembly of the nodes of Ranvier.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Antenatal manifestations of mitochondrial respiratory chain deficiency

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Chromosomal abnormalities associated with congenital contractures (arthrogryposis).

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5638693

Chromosomal abnormalities associated with congenital contractures (arthrogryposis)

26 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.23297

Genetics of arthrogryposis: linkage analysis approach

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28726266

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.23297

1 reference

6 February 2018

0 references

1 reference

6 February 2018