Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson's disease.
Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson's disease.
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DOI：
10.1038/s41531-023-00599-6
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发表时间：
2023-12-07
影响因子：
8.7
通讯作者：
Saunders-Pullman, Rachel
中科院分区：
文献类型：
--
作者：
Miltenberger-Miltenyi, Gabriel;Ortega, Roberto A.;Domingo, Aloysius;Yadav, Rachita;Nishiyama, Ayumi;Raymond, Deborah;Katsnelson, Viktoriya;Urval, Nikita;Swan, Matthew;Shanker, Vicki;Miravite, Joan;Walker, Ruth H.;Bressman, Susan B.;Ozelius, Laurie J.;Cabassa, Jose C.;Saunders-Pullman, Rachel
拉丁裔和非洲裔加勒比血统的帕金森氏病(PD)患者缺乏基因特征。对32名患有帕金森病的波多黎各人和119例非西班牙裔-非犹太欧洲帕金森病患者进行LRRK2和GBA变异的筛查显示，波多黎各参与者更有可能携带LRRK2-p.G2019S变异(分别为15.6%和4.2%)。此外，作为一项探索性研究，对12名波多黎各和多米尼加帕金森病患者进行了完整的外显子组测序。
There is a paucity of genetic characterization in people with Parkinson’s disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants in 32 New Yorkers of Puerto Rican ethnicity with PD and in 119 non-Hispanic-non-Jewish European PD cases revealed that Puerto Rican participants were more likely to harbor the LRRK2-p.G2019S variant (15.6% vs. 4.2%, respectively). Additionally, whole exome sequencing of twelve Puerto Rican and Dominican PD participants was performed as an exploratory study.
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影响因子：
4.7
作者：
Jiang M;Meng J;Zeng F;Qing H;Hook G;Hook V;Wu Z;Ni J
通讯作者：
Ni J
影响因子：
11.2
作者：
Loesch DP;Horimoto ARVR;Heilbron K;Sarihan EI;Inca-Martinez M;Mason E;Cornejo-Olivas M;Torres L;Mazzetti P;Cosentino C;Sarapura-Castro E;Rivera-Valdivia A;Medina AC;Dieguez E;Raggio V;Lescano A;Tumas V;Borges V;Ferraz HB;Rieder CR;Schumacher-Schuh A;Santos-Lobato BL;Velez-Pardo C;Jimenez-Del-Rio M;Lopera F;Moreno S;Chana-Cuevas P;Fernandez W;Arboleda G;Arboleda H;Arboleda-Bustos CE;Yearout D;Zabetian CP;23andMe Research Team;Cannon P;Thornton TA;O'Connor TD;Mata IF;Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD)
通讯作者：
Latin American Research Consortium on the Genetics of Parkinson's Disease (LARGE-PD)
DOI：
10.3390/molecules26082193
发表时间：
2021-04-11
期刊：
Molecules (Basel, Switzerland)
影响因子：
--
作者：
Cruz-Vicente P;Passarinha LA;Silvestre S;Gallardo E
通讯作者：
Gallardo E
影响因子：
64.5
作者：
Ahuja, Rashmi;Pinyol, Roser;Qualmann, Britta
通讯作者：
Qualmann, Britta
影响因子：
64.8
作者：
Karczewski, Konrad J;Francioli, Laurent C;MacArthur, Daniel G
通讯作者：
MacArthur, Daniel G