Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 3

Results: 13

Protective effects of mitophagy enhancers against amyloid beta-induced mitochondrial and synaptic toxicities in Alzheimer disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 423, doi. 10.1093/hmg/ddab262

By:

Kshirsagar, Sudhir;
Sawant, Neha;
Morton, Hallie;
Reddy, Arubala P;
Reddy, P Hemachandra

Publication type:

Article

Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 455, doi. 10.1093/hmg/ddab256

By:

Jong, Sarah de;
Breuk, Anita de;
Volokhina, Elena B;
Bakker, Bjorn;
Garanto, Alejandro;
Fauser, Sascha;
Katti, Suresh;
Hoyng, Carel B;
Lechanteur, Yara T E;
Heuvel, Lambert P van den;
Hollander, Anneke I den

Publication type:

Article

Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 347, doi. 10.1093/hmg/ddab252

By:

Little, Amarise;
Hu, Yao;
Sun, Quan;
Jain, Deepti;
Broome, Jai;
Chen, Ming-Huei;
Thibord, Florian;
McHugh, Caitlin;
Surendran, Praveen;
Blackwell, Thomas W;
Brody, Jennifer A;
Bhan, Arunoday;
Chami, Nathalie;
Vries, Paul S de;
Ekunwe, Lynette;
Heard-Costa, Nancy;
Hobbs, Brian D;
Manichaikul, Ani;
Moon, Jee-Young;
Preuss, Michael H

Publication type:

Article

De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 440, doi. 10.1093/hmg/ddab265

By:

Gregor, Anne;
Meerbrei, Tanja;
Gerstner, Thorsten;
Toutain, Annick;
Lynch, Sally Ann;
Stals, Karen;
Maxton, Caroline;
Lemke, Johannes R;
Bernat, John A;
Bombei, Hannah M;
Foulds, Nicola;
Hunt, David;
Kuechler, Alma;
Beygo, Jasmin;
Stöbe, Petra;
Bouman, Arjan;
Palomares-Bralo, Maria;
Santos-Simarro, Fernando;
Garcia-Minaur, Sixto;
Pacio-Miguez, Marta

Publication type:

Article

Assessing the genetic relationship between gastro-esophageal reflux disease and risk of COVID-19 infection.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 471, doi. 10.1093/hmg/ddab253

By:

Ong, Jue-Sheng;
Gharahkhani, Puya;
Vaughan, Thomas L;
Whiteman, David;
Kendall, Bradley J;
MacGregor, Stuart

Publication type:

Article

MCU-complex-mediated mitochondrial calcium signaling is impaired in Barth syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 376, doi. 10.1093/hmg/ddab254

By:

Ghosh, Sagnika;
Zulkifli, Mohammad;
Joshi, Alaumy;
Venkatesan, Manigandan;
Cristel, Allen;
Vishnu, Neelanjan;
Madesh, Muniswamy;
Gohil, Vishal M

Publication type:

Article

Prioritization and functional analysis of GWAS risk loci for Barrett's esophagus and esophageal adenocarcinoma.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 410, doi. 10.1093/hmg/ddab259

By:

Chen, Jianhong;
Ali, Mourad Wagdy;
Yan, Li;
Dighe, Shruti G;
Dai, James Y;
Vaughan, Thomas L;
Casey, Graham;
Buas, Matthew F

Publication type:

Article

data harmonization pipeline to leverage external controls and boost power in GWAS.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 481, doi. 10.1093/hmg/ddab261

By:

Chen, Danfeng;
Tashman, Katherine;
Palmer, Duncan S;
Neale, Benjamin;
Roeder, Kathryn;
Bloemendal, Alex;
Churchhouse, Claire;
Ke, Zheng Tracy

Publication type:

Article

Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 399, doi. 10.1093/hmg/ddab258

By:

Lenglez, Sandrine;
Sablon, Ariane;
Fénelon, Gilles;
Boland, Anne;
Deleuze, Jean-François;
Boutoleau-Bretonnière, Claire;
Nicolas, Gaël;
Demoulin, Jean-Baptiste

Publication type:

Article

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 362, doi. 10.1093/hmg/ddab248

By:

Bergen, Nicole J Van;
Bell, Katrina M;
Carey, Kirsty;
Gear, Russell;
Massey, Sean;
Murrell, Edward K;
Gallacher, Lyndon;
Pope, Kate;
Lockhart, Paul J;
Kornberg, Andrew;
Pais, Lynn;
Walkiewicz, Marzena;
Simons, Cas;
Flagship, MCRI Rare Diseases;
Wickramasinghe, Vihandha O;
White, Susan M;
Christodoulou, John

Publication type:

Article

Molecular genetic evaluation of pediatric renovascular hypertension due to renal artery stenosis and abdominal aortic coarctation in neurofibromatosis type 1.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 334, doi. 10.1093/hmg/ddab241

By:

Coleman, Dawn M;
Wang, Yu;
Yang, Min-Lee;
Hunker, Kristina L;
Birt, Isabelle;
Bergin, Ingrid L;
Li, Jun Z;
Stanley, James C;
Ganesh, Santhi K

Publication type:

Article

Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 386, doi. 10.1093/hmg/ddab255

By:

Yang, Bin;
Borgeaud, Alicia C;
Buřičová, Marcela;
Aeschbach, Lorène;
Rodríguez-Lima, Oscar;
Buendía, Gustavo A Ruiz;
Cinesi, Cinzia;
Taylor, Alysha S;
Baubec, Tuncay;
Dion, Vincent

Publication type:

Article

Single-cell ATAC-Seq reveals cell type-specific transcriptional regulation and unique chromatin accessibility in human spermatogenesis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 3, p. 321, doi. 10.1093/hmg/ddab006

By:

Wu, Xiaolong;
Lu, Mujun;
Yun, Damin;
Gao, Sheng;
Chen, Shitao;
Hu, Longfei;
Wu, Yunhao;
Wang, Xiaorong;
Duan, Enkui;
Cheng, C Yan;
Sun, Fei

Publication type:

Article