[HTML][HTML] Generation of an induced pluripotent stem cell line (UMi043-A) from an African American patient with Alzheimer's disease carrying an ABCA7 deletion (p …

HN Cukier, SA Simon, E Tang, CG Golightly… - Stem Cell Research, 2024 - Elsevier
The ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene is associated with
Alzheimer's disease (AD) risk in populations of African, Asian, and European ancestry 1-5 …

iPSC‐derived neurons and microglia with an African‐specific ABCA7 frameshift deletion have impaired function: Genetics: Molecular genetics of AD and ADRD

HN Cukier, J Laverde‐Paz, J Ramirez… - Alzheimer's & …, 2020 - Wiley Online Library
Background The ATP‐binding cassette, sub‐family A (ABC1), member 7 (ABCA7) gene has
been implicated as a risk factor in Alzheimer's disease (AD) across populations. However …

[引用][C] [P2–114]: PATIENT‐DERIVED IPSC MODEL OF AN ABCA7 FRAMESHIFT DELETION ASSOCIATED WITH ALZHEIMER's DISEASE IN AFRICAN AMERICANS

HN Cukier, N Mehta, J Ramirez, S Rolati… - Alzheimer's & …, 2017 - Wiley Online Library
Background The ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7) gene has
been implicated as a risk factor in Alzheimer's disease (AD) across populations including …

[引用][C] P2‐013: ABCA7 deletion associated with Alzheimer's disease in african americans

HN Cukier, BW Kunkle, S Rolati… - Alzheimer's & …, 2015 - Wiley Online Library
Background The ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7) gene has
been implicated as a risk factor in Alzheimer's disease (AD) in both African American and …

[HTML][HTML] Generation of a homozygous ABCA7-knockout human iPSC line using the CRISPR/Cas9 system

M Guan, Y Chai, R Yi, Y Chen, JPK Ip, T Ye, Y Chen - Stem Cell Research, 2023 - Elsevier
ABCA7 encodes an ATP-binding cassette transporter, and its loss-of-function variants are
associated with Alzheimer's disease. To investigate the role of ABCA7 deficiency in the …

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

HN Cukier, BW Kunkle, BN Vardarajan… - Neurology …, 2016 - AAN Enterprises
Objective: To identify a causative variant (s) that may contribute to Alzheimer disease (AD) in
African Americans (AA) in the ATP-binding cassette, subfamily A (ABC1), member 7 …

Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion

L Bossaerts, E Hendrickx Van de Craen… - Acta neuropathologica …, 2022 - Springer
The adenosine triphosphate–binding cassette subfamily A member 7 gene (ABCA7) is
associated with Alzheimer's disease (AD) in large genome-wide association studies …

A novel variant c. 3706C> T p.(Avg 1236Cys) in the ABCA7 gene in a Saudi patient with susceptibility to Alzheimer's disease 9

H Algahtani, B Shirah, A Alshareef… - Intractable & Rare …, 2020 - jstage.jst.go.jp
Alzheimer's disease (AD) is the most common cause of dementia with around 50 million
people suffering from this disease worldwide. Mutations in the ATP-binding cassette sub …

ABCA7, a genetic risk factor associated with Alzheimer's disease risk in African Americans

KE Stepler, TR Gillyard, CB Reed… - Journal of …, 2022 - content.iospress.com
African American/Black adults are twice as likely to have Alzheimer's disease (AD)
compared to non-Hispanic White adults. Genetics partially contributes to this disparity in AD …

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease

A De Roeck, L Duchateau, J Van Dongen… - Acta …, 2018 - Springer
Mutations leading to premature termination codons in ATP-Binding Cassette Subfamily A
Member 7 (ABCA7) are high penetrant risk factors of Alzheimer's disease (AD). The …