Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 23

Results: 12

Behavioral impulsivity is associated with pupillary alterations and hyperactivity in CDKL5 mutant mice.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 4107, doi. 10.1093/hmg/ddac164

By:

Viglione, Aurelia;
Sagona, Giulia;
Carrara, Fabio;
Amato, Giuseppe;
Totaro, Valentino;
Lupori, Leonardo;
Putignano, Elena;
Pizzorusso, Tommaso;
Mazziotti, Raffaele

Publication type:

Article

Detailed stratified GWAS analysis for severe COVID-19 in four European populations.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 3945, doi. 10.1093/hmg/ddac158

By:

Degenhardt, Frauke;
Ellinghaus, David;
Juzenas, Simonas;
Lerga-Jaso, Jon;
Wendorff, Mareike;
Maya-Miles, Douglas;
Uellendahl-Werth, Florian;
ElAbd, Hesham;
Rühlemann, Malte C;
Arora, Jatin;
Özer, Onur;
Lenning, Ole Bernt;
Myhre, Ronny;
Vadla, May Sissel;
Wacker, Eike M;
Wienbrandt, Lars;
Ortiz, Aaron Blandino;
Salazar, Adolfo de;
Chercoles, Adolfo Garrido;
Palom, Adriana

Publication type:

Article

impact of fatty acids biosynthesis on the risk of cardiovascular diseases in Europeans and East Asians: a Mendelian randomization study.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 4034, doi. 10.1093/hmg/ddac153

By:

Borges, Maria-Carolina;
Haycock, Phillip;
Zheng, Jie;
Hemani, Gibran;
Howe, Laurence J;
Schmidt, A Floriaan;
Staley, James R;
Lumbers, R Thomas;
Henry, Albert;
Lemaitre, Rozenn N;
Gaunt, Tom R;
Holmes, Michael V;
Smith, George Davey;
Hingorani, Aroon D;
Lawlor, Deborah A

Publication type:

Article

Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 4055, doi. 10.1093/hmg/ddac151

By:

Murray, G C;
Bais, P;
Hatton, C L;
Tadenev, A L D;
Hoffmann, B R;
Stodola, T J;
Morelli, K H;
Pratt, S L;
Schroeder, D;
Doty, R;
Fiehn, O;
John, S W M;
Bult, C J;
Cox, G A;
Burgess, R W

Publication type:

Article

Immunomodulatory functions of the circ_001678/miRNA-326/ZEB1 axis in non-small cell lung cancer via the regulation of PD-1/PD-L1 pathway.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 4094, doi. 10.1093/hmg/ddac155

By:

Tian, Qi;
Wu, Tong;
Zhang, Xiudi;
Xu, Ke;
Yin, Xiaobo;
Wang, Xiaojie;
Shi, Shanshan;
Wang, Ping;
Gao, Liming;
Xu, Shufeng;
Liu, Xinyan

Publication type:

Article

Comparative genomic analyses of multiple backcross mouse populations suggest SGCG as a novel potential obesity-modifier gene.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 4019, doi. 10.1093/hmg/ddac150

By:

Kuhn, Tanja;
Kaiser, Katharina;
Lebek, Sandra;
Altenhofen, Delsi;
Knebel, Birgit;
Herwig, Ralf;
Rasche, Axel;
Pelligra, Angela;
Görigk, Sarah;
Khuong, Jenny Minh-An;
Vogel, Heike;
Schürmann, Annette;
Blüher, Matthias;
Chadt, Alexandra;
Al-Hasani, Hadi

Publication type:

Article

Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 4075, doi. 10.1093/hmg/ddac149

By:

Franco, Melissa;
Pickett, Sarah J;
Fleischmann, Zoe;
Khrapko, Mark;
Cote-L'Heureux, Auden;
Aidlen, Dylan;
Stein, David;
Markuzon, Natasha;
Popadin, Konstantin;
Braverman, Maxim;
Woods, Dori C;
Tilly, Jonathan L;
Turnbull, Doug M;
Khrapko, Konstantin

Publication type:

Article

Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 4087, doi. 10.1093/hmg/ddac145

By:

Johnston, Jennifer J;
Dirksen, Robert T;
Girard, Thierry;
Hopkins, Phil M;
Kraeva, Natalia;
Ognoon, Mungunsukh;
Radenbaugh, K Bailey;
Riazi, Sheila;
Robinson, Rachel L;
Saddic, Louis A;
Sambuughin, Nyamkhishig;
Saxena, Richa;
Shepherd, Sarah;
Stowell, Kathryn;
Weber, James;
Yoo, Seeley;
Rosenberg, Henry;
Biesecker, Leslie G

Publication type:

Article

Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 4006, doi. 10.1093/hmg/ddac148

By:

Liu, Zhiying;
Sui, Aihua;
Wang, Sai;
Cui, Li;
Xin, Qing;
Zhang, Ruixiao;
Han, Yue;
Shao, Leping;
Zhao, Xiangzhong

Publication type:

Article

risk variant for Barrett's esophagus and esophageal adenocarcinoma at chr8p23.1 affects enhancer activity and implicates multiple gene targets.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 3975, doi. 10.1093/hmg/ddac141

By:

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

Publication type:

Article

GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 3967, doi. 10.1093/hmg/ddac093

By:

Narumi, Satoshi;
Opitz, Robert;
Nagasaki, Keisuke;
Muroya, Koji;
Asakura, Yumi;
Adachi, Masanori;
Abe, Kiyomi;
Sugisawa, Chiho;
Kühnen, Peter;
Ishii, Tomohiro;
Nöthen, Markus M;
Krude, Heiko;
Hasegawa, Tomonobu

Publication type:

Article

Pathological characterization of a novel mouse model expressing the PD-linked CHCHD2-T61I mutation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 23, p. 3987, doi. 10.1093/hmg/ddac083

By:

Kee, Teresa R;
Wehinger, Jessica L;
Gonzalez, Pamela Espinoza;
Nguyen, Eric;
Percy, Kyle C McGill;
Khan, Sophia A;
Chaput, Dale;
Wang, Xinming;
Liu, Tian;
Kang, David E;
Woo, Jung-A A

Publication type:

Article