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
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
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
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
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
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
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
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
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