Výsledky vyhledávání - "Holly N Cukier"

Akademický článek

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.

Autor: Daria Salyakina, Holly N Cukier, Joycelyn M Lee, Stephanie Sacharow, Laura D Nations, Deqiong Ma, James M Jaworski, Ioanna Konidari, Patrice L Whitehead, Harry H Wright, Ruth K Abramson, Scott M Williams, Ramkumar Menon, Jonathan L Haines, John R Gilbert, Michael L Cuccaro, Margaret A Pericak-Vance

Publikováno v: PLoS ONE, Vol 6, Iss 10, p e26049 (2011)

Copy number variations (CNVs) are a major cause of genetic disruption in the human genome with far more nucleotides being altered by duplications and deletions than by single nucleotide polymorphisms (SNPs). In the multifaceted etiology of autism spe

Externí odkaz: https://doaj.org/article/a763b4dff8ec48fdad221a499acb13ca

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Akademický článek

Genetic modifiers of MeCP2 function in Drosophila.

Autor: Holly N Cukier, Alma M Perez, Ann L Collins, Zhaolan Zhou, Huda Y Zoghbi, Juan Botas

Publikováno v: PLoS Genetics, Vol 4, Iss 9, p e1000179 (2008)

The levels of methyl-CpG-binding protein 2 (MeCP2) are critical for normal post-natal development and function of the nervous system. Loss of function of MeCP2, a transcriptional regulator involved in chromatin remodeling, causes classic Rett syndrom

Externí odkaz: https://doaj.org/article/5add675c3c7e407c92ff8f550d1a4324

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Akademický článek

Generation of an induced pluripotent stem cell line (UMi043-A) from an African American patient with Alzheimer’s disease carrying an ABCA7 deletion (p.Arg578Alafs)

Autor: Holly N. Cukier, Shaina A. Simon, Eugene Tang, Charles G. Golightly, Mayra Juliana Laverde-Paz, Larry Deon Adams, Takiyah D. Starks, Jeffery M. Vance, Michael L. Cuccaro, Jonathan L. Haines, Goldie S. Byrd, Margaret A. Pericak-Vance, Derek M. Dykxhoorn

Publikováno v: Stem Cell Research, Vol 76, Iss , Pp 103364- (2024)

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 ancestry1-5. Numerous ABCA7 mutations contributing to risk have been identified, inc

Externí odkaz: https://doaj.org/article/a261ce83f35c4a99bceebaac13a6fffe

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Akademický článek

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions

Autor: Holly N. Cukier, Hyunjin Kim, Anthony J. Griswold, Simona G. Codreanu, Lisa M. Prince, Stacy D. Sherrod, John A. McLean, Derek M. Dykxhoorn, Kevin C. Ess, Peter Hedera, Aaron B. Bowman, M. Diana Neely

Publikováno v: npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-17 (2022)

Abstract We previously reported on two brothers who carry identical compound heterozygous PRKN mutations yet present with significantly different Parkinson’s Disease (PD) clinical phenotypes. Juvenile cases demonstrate that PD is not necessarily an

Externí odkaz: https://doaj.org/article/9cfa439da89548cd82667ecafd084ddb

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Akademický článek

Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer’s disease risk variant p.S1038C in the TTC3 gene

Autor: Mayra Juliana Laverde-Paz, Karen Nuytemans, Liyong Wang, Jeffery M. Vance, Margaret A. Pericak-Vance, Derek M. Dykxhoorn, Holly N. Cukier

Publikováno v: Stem Cell Research, Vol 52, Iss , Pp 102258- (2021)

The UMi028-A-2 human induced pluripotent stem cell line carries a homozygous mutation (rs377155188, C>G, p.S1038C) in the tetratricopeptide repeat domain 3 (TTC3) gene that was introduced via CRISPR/Cas9 genome editing. The line was originally derive

Externí odkaz: https://doaj.org/article/1a6d19caec5e47c18494987d57cd938f

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions

Publikováno v: NPJ Parkinson's disease. 8(1)

We previously reported on two brothers who carry identical compound heterozygous PRKN mutations yet present with significantly different Parkinson’s Disease (PD) clinical phenotypes. Juvenile cases demonstrate that PD is not necessarily an aging-as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25f7749942dd91a9ded38ad4418767bf
https://pubmed.ncbi.nlm.nih.gov/35768426

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