(Q37346978)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Congenital myopathy is caused by mutation of HACD1 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

0 references

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Todd E. Scheetz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Adam P. DeLuca

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Akio Kihara

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Val C. Sheffield

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

author name string

Emad Muhammad

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Orit Reish

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Charles Searby

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Miriam Regev

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Lilach Benyamini

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Yakov Fellig

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Ruti Parvari

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

publication date

9 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

issue

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

page(s)

5229-5236

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

Very long-chain fatty acids: elongation, physiology and related disorders

7 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=3842179

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Congenital myopathies: an update

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Protein tyrosine phosphatase-like A regulates myoblast proliferation and differentiation through MyoG and the cell cycling signaling pathway

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Making heads or tails of phospholipids in mitochondria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

KinSNP software for homozygosity mapping of disease genes using SNP microarrays

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Cellular phospholipid uptake: flexible paths to coregulate the functions of intracellular lipids

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Fast and accurate short read alignment with Burrows-Wheeler transform

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases involved in very long-chain fatty acid synthesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Membrane topology and essential amino acid residues of Phs1, a 3-hydroxyacyl-CoA dehydratase involved in very long-chain fatty acid elongation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

A survey of essential gene function in the yeast cell division cycle

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

The yeast split-ubiquitin membrane protein two-hybrid screen identifies BAP31 as a regulator of the turnover of endoplasmic reticulum-associated protein tyrosine phosphatase-like B

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Human protein tyrosine phosphatase-like gene: expression profile, genomic structure, and mutation analysis in families with ARVD.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Form, function, and regulation of protein tyrosine phosphatases and their involvement in human diseases.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Involvement of long chain fatty acid elongation in the trafficking of secretory vesicles in yeast

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

A yeast acetyl coenzyme A carboxylase mutant links very-long-chain fatty acid synthesis to the structure and function of the nuclear membrane-pore complex.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Characterization of HACD1 K64Q mutant found in arrhythmogenic right ventricular dysplasia patients.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Palmitoylation of the sphingosine 1-phosphate receptor S1P is involved in its signaling functions and internalization

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Lipids as organizers of cell membranes

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Synthesis of sphingolipids with very long chain fatty acids but not ergosterol is required for routing of newly synthesized plasma membrane ATPase to the cell surface of yeast.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Sphingolipid Requirement for Generation of a Functional V1 Component of the Vacuolar ATPase

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3842179

Muscle maturation delay in infantile myotonic dystrophy

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23933735

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A benign congenital myopathy in an inbred Samaritan family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23933735

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The 2012 version of the gene table of monogenic neuromuscular disorders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23933735

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDT380

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

PubMed publication ID

23933735

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23933735%20AND%20SRC:MED&resulttype=core&format=json