Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 7

Results: 14

Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissues.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1171, doi. 10.1093/hmg/ddab236

By:

Castaneda, Andy B;
Petty, Lauren E;
Scholz, Markus;
Jansen, Rick;
Weiss, Stefan;
Zhang, Xiaoling;
Schramm, Katharina;
Beutner, Frank;
Kirsten, Holger;
Schminke, Ulf;
Hwang, Shih-Jen;
Marzi, Carola;
Dhana, Klodian;
Seldenrijk, Adrie;
Krohn, Knut;
Homuth, Georg;
Wolf, Petra;
Peters, Marjolein J;
Dörr, Marcus;
Peters, Annette

Publication type:

Article

pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1096, doi. 10.1093/hmg/ddab310

By:

Yellajoshyula, Dhananjay;
Rogers, Abigail E;
Kim, Audrey J;
Kim, Sumin;
Pappas, Samuel S;
Dauer, William T

Publication type:

Article

Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1105, doi. 10.1093/hmg/ddab309

By:

Pilz, Robert;
Opálka, Lukáš;
Majcher, Adam;
Grimm, Elisabeth;
Maldergem, Lionel Van;
Mihalceanu, Silvia;
Schäkel, Knut;
Enk, Alexander;
Aubin, François;
Bursztejn, Anne-Claire;
Brischoux-Boucher, Elise;
Fischer, Judith;
Sandhoff, Roger

Publication type:

Article

Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1115, doi. 10.1093/hmg/ddab308

By:

Wen, Bing;
Tang, Shuyao;
Lv, Xiaoqing;
Li, Duoling;
Xu, Jingwen;
Olsen, Rikke Katrine Jentoft;
Zhao, Yuying;
Li, Wei;
Wang, Tan;
Shao, Kai;
Zhao, Dandan;
Yan, Chuanzhu

Publication type:

Article

Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1082, doi. 10.1093/hmg/ddab306

By:

Suetsugu, Hiroyuki;
Kim, Kwangwoo;
Yamamoto, Takuaki;
Bang, So-Young;
Sakamoto, Yuma;
Shin, Jung-Min;
Sugano, Nobuhiko;
Kim, Ji Soong;
Mukai, Masaya;
Lee, Yeon-Kyung;
Ohmura, Koichiro;
Park, Dae Jin;
Takahashi, Daisuke;
Ahn, Ga-Young;
Karino, Kohei;
Kwon, Young-Chang;
Miyamura, Tomoya;
Kim, Jihye;
Nakamura, Junichi;
Motomura, Goro

Publication type:

Article

multiethnic whole genome sequencing study to identify novel loci for bone mineral density.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1067, doi. 10.1093/hmg/ddab305

By:

Greenbaum, Jonathan;
Su, Kuan-Jui;
Zhang, Xiao;
Liu, Yong;
Liu, Anqi;
Zhao, Lan-Juan;
Luo, Zhe;
Tian, Qing;
Shen, Hui;
Deng, Hong-Wen

Publication type:

Article

C/D box snoRNA SNORD113-6/AF357425 plays a dual role in integrin signalling and arterial fibroblast function via pre-mRNA processing and 2′O-ribose methylation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1051, doi. 10.1093/hmg/ddab304

By:

Ingen, Eva van;
Homberg, Daphne A L van den;
Bent, M Leontien van der;
Mei, Hailiang;
Papac-Milicevic, Nikolina;
Kremer, Veerle;
Boon, Reinier A;
Quax, Paul H A;
Wojta, Johann;
Nossent, A Yaël

Publication type:

Article

microtubule-associated protein Tau suppresses the axonal distribution of PDF neuropeptide and mitochondria in circadian clock neurons.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1141, doi. 10.1093/hmg/ddab303

By:

Zhang, Melanie Y;
Lear, Bridget C;
Allada, Ravi

Publication type:

Article

Differential impact of Kv8.2 loss on rod and cone signaling and degeneration.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1035, doi. 10.1093/hmg/ddab301

By:

Inamdar, Shivangi M;
Lankford, Colten K;
Poria, Deepak;
Laird, Joseph G;
Solessio, Eduardo;
Kefalov, Vladimir J;
Baker, Sheila A

Publication type:

Article

Fat metabolism is associated with telomere length in six population-based studies.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1159, doi. 10.1093/hmg/ddab281

By:

van der Spek, Ashley;
Karamujić-Čomić, Hata;
Pool, René;
Bot, Mariska;
Beekman, Marian;
Garmaeva, Sanzhima;
Arp, Pascal P;
Henkelman, Sandra;
Liu, Jun;
Alves, Alexessander Couto;
Willemsen, Gonneke;
Grootheest, Gerard van;
Aubert, Geraldine;
Consortium, BBMRI Metabolomics;
Ikram, M Arfan;
Jarvelin, Marjo-Riitta;
Lansdorp, Peter;
Uitterlinden, André G;
Zhernakova, Alexandra;
Slagboom, P Eline

Publication type:

Article

Heterozygous Tropomodulin 3 mice have improved lung vascularization after chronic hypoxia.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1130, doi. 10.1093/hmg/ddab291

By:

Stobdan, Tsering;
Jain, Pritesh P;
Xiong, Mingmei;
Bafna, Vineet;
Yuan, Jason X-J;
Haddad, Gabriel G

Publication type:

Article

Protective effects of a small-molecule inhibitor DDQ against tau-induced toxicities in a transgenic tau mouse model of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1022, doi. 10.1093/hmg/ddab285

By:

Vijayan, Murali;
George, Mathew;
Bunquin, Lloyd E;
Bose, Chhanda;
Reddy, P Hemachandra

Publication type:

Article

dihydrofolate reductase 19-bp deletion modifies the beneficial effect of B-vitamin therapy in mild cognitive impairment: pooled study of two randomized placebo-controlled trials.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1151, doi. 10.1093/hmg/ddab246

By:

Wu, Yuanyuan;
Smith, A David;
Bastani, Nasser E;
Refsum, Helga;
Kwok, Timothy

Publication type:

Article

mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 7, p. 1013, doi. 10.1093/hmg/ddab242

By:

Liu, Mohan;
Yang, Yihong;
Wang, Yan;
Chen, Suren;
Shen, Ying

Publication type:

Article