(Q36666920)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434117%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease (English)

1 reference

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24 February 2020

11

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24 February 2020

Yi-Chung Lee

13

1 reference

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24 February 2020

author name string

Bing-Wen Soong

1

1 reference

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24 February 2020

Yen-Hua Huang

2

1 reference

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24 February 2020

Pei-Chien Tsai

3

1 reference

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24 February 2020

Chien-Chang Huang

4

1 reference

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24 February 2020

Hung-Chuan Pan

5

1 reference

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24 February 2020

Yi-Chun Lu

6

1 reference

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24 February 2020

Hsin-Ju Chien

7

1 reference

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24 February 2020

Tze-Tze Liu

8

1 reference

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24 February 2020

Ming-Hong Chang

9

1 reference

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24 February 2020

Kon-Ping Lin

10

1 reference

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24 February 2020

Lung-Sen Kao

12

1 reference

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24 February 2020

language of work or name

English

0 references

publication date

21 February 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434117%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

24 February 2020

published in

1 reference

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24 February 2020

volume

92

1 reference

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24 February 2020

issue

3

1 reference

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24 February 2020

page(s)

422-430

1 reference

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Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

24 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Quantitative and integrative proteome analysis of peripheral nerve myelin identifies novel myelin proteins and candidate neuropathy loci.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Spatio-temporal transcriptome of the human brain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Charcot-Marie-Tooth disease subtypes and genetic testing strategies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

A map of human genome variation from population-scale sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Regulation of sodium-calcium exchanger activity by creatine kinase under energy-compromised conditions.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

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=3591844

Functional annotations improve the predictive score of human disease-related mutations in proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

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=3591844

The role of Gbetagamma subunits in the organization, assembly, and function of GPCR signaling complexes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Heterotrimeric G protein activation by G-protein-coupled receptors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth 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=3591844

PANTHER: a library of protein families and subfamilies indexed by function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

The human G protein beta4 subunit: gene structure, expression, Ggamma and effector interaction.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Database resources of the National Center for Biotechnology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Cloning, tissue distribution, and functional expression of the human G protein beta 4-subunit

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Crystal structure at 2.4 angstroms resolution of the complex of transducin betagamma and its regulator, phosducin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

G alpha 15 and G alpha 16 couple a wide variety of receptors to phospholipase C

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

A new generation of Ca2+ indicators with greatly improved fluorescence properties

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

G proteins: transducers of receptor-generated signals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Properties of Kv2.1 K+ channels expressed in transfected mammalian cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Clinical characterization and genetic analysis of a possible novel type of dominant Charcot-Marie-Tooth 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=3591844

The co-presence of Na+/Ca2+-K+ exchanger and Na+/Ca2+ exchanger in bovine adrenal chromaffin cells.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

Genome-wide midrange transcription profiles reveal expression level relationships in human tissue specification

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591844

The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification

20 September 2018

1 reference

12 December 2020

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

12 December 2020

In vitro processing of recombinant G protein gamma subunits. Requirements for assembly of an active beta gamma complex

1 reference

12 December 2020

Structural basis of activity and subunit recognition in G protein heterotrimers

1 reference

12 December 2020

Performance of mutation pathogenicity prediction methods on missense variants

1 reference

12 December 2020

10.1016/J.AJHG.2013.01.014

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434117%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434117%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PubMed publication ID

23434117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434117%20AND%20SRC:MED&resulttype=core&format=json