The role of the ATP-binding cassette A1 (ABCA1) in human disease

L Jacobo-Albavera, M Domínguez-Pérez… - International journal of …, 2021 - mdpi.com
Cholesterol homeostasis is essential in normal physiology of all cells. One of several
proteins involved in cholesterol homeostasis is the ATP-binding cassette transporter A1 …

Statistical analysis strategies for association studies involving rare variants

V Bansal, O Libiger, A Torkamani… - Nature Reviews Genetics, 2010 - nature.com
The limitations of genome-wide association (GWA) studies that focus on the phenotypic
influence of common genetic variants have motivated human geneticists to consider the …

Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

B Li, SM Leal - The American Journal of Human Genetics, 2008 - cell.com
Although whole-genome association studies using tagSNPs are a powerful approach for
detecting common variants, they are underpowered for detecting associations with rare …

A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression

HM Knight, BS Pickard, A Maclean, MP Malloy… - The American Journal of …, 2009 - cell.com
Schizophrenia and bipolar disorder are leading causes of morbidity across all populations,
with heritability estimates of∼ 80% indicating a substantial genetic component. Population …

Discovery of rare variants via sequencing: implications for the design of complex trait association studies

B Li, SM Leal - PLoS genetics, 2009 - journals.plos.org
There is strong evidence that rare variants are involved in complex disease etiology. The
first step in implicating rare variants in disease etiology is their identification through …

Population Genetic Analysis of the Uncoupling Proteins Supports a Role for UCP3 in Human Cold Resistance

AM Hancock, VJ Clark, Y Qian… - Molecular biology and …, 2011 - academic.oup.com
Production of heat via nonshivering thermogenesis (NST) is critical for temperature
homeostasis in mammals. Uncoupling protein UCP1 plays a central role in NST by …

Pathway-based approach using hierarchical components of collapsed rare variants

S Lee, S Choi, YJ Kim, BJ Kim… - …, 2016 - academic.oup.com
Motivation To address 'missing heritability'issue, many statistical methods for pathway-based
analyses using rare variants have been proposed to analyze pathways individually …

Significance of cholesterol-binding motifs in ABCA1, ABCG1, and SR-B1 structure

AD Dergunov, EV Savushkin, LV Dergunova… - The Journal of …, 2019 - Springer
Abstract ABCA1, ABCG1 transporters, and SR-B1 receptor are the major proteins involved in
cholesterol efflux from cells. We superposed in silico the location of putative cholesterol …

[HTML][HTML] Effect of ATP-binding cassette transporter A1 (ABCA1) gene polymorphisms on plasma lipid variables and common demographic parameters in Greek nurses

V Kolovou, A Marvaki, M Boutsikou… - The open …, 2016 - ncbi.nlm.nih.gov
Objective: The present study is on line with our previous studies evaluating the influence of
ATP-binding cassette transporter A1 (ABCA1) gene polymorphisms on the lipid variables of …

Functional rescue of mutant ABCA1 proteins by sodium 4-phenylbutyrate [S]

B Sorrenson, RJ Suetani, MJA Williams… - Journal of lipid …, 2013 - ASBMB
Mutations in the ATP-binding cassette transporter A1 (ABCA1) are a major cause of
decreased HDL cholesterol (HDL-C), which infers an increased risk of cardiovascular …