(Q33398695)

26 July 2017

Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease (English)

1 reference

26 July 2017

hypoalphalipoproteinemia

1 reference

Jeffrey Rhyne

1

1 reference

26 July 2017

Myrna M Mantaring

series ordinal

2

1 reference

26 July 2017

David F Gardner

series ordinal

3

1 reference

26 July 2017

Michael Miller

series ordinal

4

1 reference

26 July 2017

8 January 2009

1 reference

26 July 2017

1 reference

26 July 2017

10

1 reference

26 July 2017

1

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-10-1

26 July 2017

0 references

cites work

Functional coordination of alternative splicing in the mammalian central nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Different levels of alternative splicing among eukaryotes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Do mutations causing low HDL-C promote increased carotid intima-media thickness?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

What is so special about apolipoprotein AI in reverse cholesterol transport?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Are splicing mutations the most frequent cause of hereditary disease?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Genetic determinants of low high-density lipoprotein cholesterol

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Genome-wide identification of genes likely to be involved in human genetic disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Genetics of HDL regulation in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Finding signals that regulate alternative splicing in the post-genomic era

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

mRNA surveillance: the perfect persist

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Epidemiologic evidence for high-density lipoprotein cholesterol as a risk factor for coronary artery disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

A novel bipartite intronic splicing enhancer promotes the inclusion of a mini-exon in the AMP deaminase 1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

ABC1: connecting yellow tonsils, neuropathy, and very low HDL.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

A perfect message: RNA surveillance and nonsense-mediated decay

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Multiple interdependent sequence elements control splicing of a fibroblast growth factor receptor 2 alternative exon

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

A design for computer nucleic-acid-sequence storage, retrieval, and manipulation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2642808

Post-transcriptional regulation of macrophage ABCA1, an early response gene to IFN-gamma

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-1

Effect of gemfibrozil in men with primary isolated low high-density lipoprotein cholesterol: a randomized, double-blind, placebo-controlled, crossover study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-1

Novel ABCA1 compound variant associated with HDL cholesterol deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-1

Automated splicing mutation analysis by information theory.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-1

Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-1

A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-10-1

Genotypic variation in ATP-binding cassette transporter-1 (ABCA1) as contributors to the high and low high-density lipoprotein-cholesterol (HDL-C) phenotype

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19133158

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-10-1

1 reference

26 July 2017

1 reference

26 July 2017

1 reference