(Q35183114)

7 August 2017

title

Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease (English)

1 reference

7 August 2017

1 reference

13

Michael R Hayden

1 reference

7 August 2017

Liam R Brunham

1

1 reference

7 August 2017

Martin H Kang

2

1 reference

7 August 2017

Clara Van Karnebeek

3

1 reference

7 August 2017

Singh N Sadananda

4

1 reference

7 August 2017

Jennifer A Collins

5

1 reference

7 August 2017

Lin-Hua Zhang

6

1 reference

7 August 2017

Bryan Sayson

7

1 reference

7 August 2017

Fudan Miao

8

1 reference

7 August 2017

Sylvia Stockler

9

1 reference

7 August 2017

Jiri Frohlich

10

1 reference

7 August 2017

David Cassiman

11

1 reference

7 August 2017

Simon W Rabkin

12

1 reference

7 August 2017

publication date

12 October 2014

1 reference

Journal of Inherited Metabolic Disorders Reports

7 August 2017

published in

1 reference

7 August 2017

volume

18

1 reference

7 August 2017

page(s)

51-62

1 reference

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Loss of both ABCA1 and ABCG1 results in increased disturbances in islet sterol homeostasis, inflammation, and impaired β-cell function

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Adipose tissue ATP binding cassette transporter A1 contributes to high-density lipoprotein biogenesis in vivo

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Carriers of loss-of-function mutations in ABCA1 display pancreatic beta-cell dysfunction

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Specific loss of brain ABCA1 increases brain cholesterol uptake and influences neuronal structure and function

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Cholesterol in islet dysfunction and type 2 diabetes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Beta-cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Intestinal ABCA1 directly contributes to HDL biogenesis in vivo

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Lysosomal lipid vacuoles in macrophages located in the colon

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

The Human Gene Mutation Database: 2008 update

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Tissue-specific roles of ABCA1 influence susceptibility to atherosclerosis.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

ABCA1 gene mutations, HDL cholesterol levels, and risk of ischemic heart disease

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

ATP-binding cassette transporter A1 expression disrupts raft membrane microdomains through its ATPase-related functions.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

ABCA1 mRNA and protein distribution patterns predict multiple different roles and levels of regulation

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361929

POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25308558

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Digestive tract involvement in an infant and a child with Tangier disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25308558

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/8904_2014_348

1 reference

7 August 2017

1 reference

7 August 2017

1 reference