Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 14

Results: 15

Lysosomal ceramides regulate cathepsin B-mediated processing of saposin C and glucocerebrosidase activity.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2424, doi. 10.1093/hmg/ddac047

By:

Kim, Myung Jong;
Jeong, Hyunkyung;
Krainc, Dimitri

Publication type:

Article

Sunitinib inhibits STAT3 phosphorylation in cardiac muscle and prevents cardiomyopathy in the mdx mouse model of Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2358, doi. 10.1093/hmg/ddac042

By:

Oliveira-Santos, Ariany;
Dagda, Marisela;
Burkin, Dean J

Publication type:

Article

Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2396, doi. 10.1093/hmg/ddac038

By:

Yang, Shi Yu;
Taanman, Jan-Willem;
Gegg, Matthew;
Schapira, Anthony H V

Publication type:

Article

Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2348, doi. 10.1093/hmg/ddac037

By:

Yu, Yao;
Alvarado, Rolando;
Petty, Lauren E;
Bohlender, Ryan J;
Shaw, Douglas M;
Below, Jennifer E;
Bejar, Nada;
Ruiz, Oscar E;
Tandon, Bhavna;
Eisenhoffer, George T;
Kiss, Daniel L;
Huff, Chad D;
Letra, Ariadne;
Hecht, Jacqueline T

Publication type:

Article

Clonal hematopoiesis as a pitfall in germline variant interpretation in the context of Mendelian disorders.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2386, doi. 10.1093/hmg/ddac034

By:

Brunet, Theresa;
Berutti, Riccardo;
Dill, Veronika;
Hecker, Judith S;
Choukair, Daniela;
Andres, Stephanie;
Deschauer, Marcus;
Diehl-Schmid, Janine;
Krenn, Martin;
Eckstein, Gertrud;
Graf, Elisabeth;
Gasser, Thomas;
Strom, Tim M;
Hoefele, Julia;
Götze, Katharina S;
Meitinger, Thomas;
Wagner, Matias

Publication type:

Article

Choroidal endothelial and macrophage gene expression in atrophic and neovascular macular degeneration.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2406, doi. 10.1093/hmg/ddac043

By:

Voigt, Andrew P;
Mullin, Nathaniel K;
Mulfaul, Kelly;
Lozano, Lola P;
Wiley, Luke A;
Flamme-Wiese, Miles J;
Boese, Erin A;
Han, Ian C;
Scheetz, Todd E;
Stone, Edwin M;
Tucker, Budd A;
Mullins, Robert F

Publication type:

Article

Mechanistic convergence across initiation sites for RAN translation in fragile X associated tremor ataxia syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2317, doi. 10.1093/hmg/ddab353

By:

Zhang, Yuan;
Glineburg, M Rebecca;
Basrur, Venkatesha;
Conlon, Kevin;
Wright, Shannon E;
Krans, Amy;
Hall, Deborah A;
Todd, Peter K

Publication type:

Article

Distinct roles of the dystrophin–glycoprotein complex: α-dystrobrevin and α-syntrophin in the maintenance of the postsynaptic apparatus of the neuromuscular synapse.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2370, doi. 10.1093/hmg/ddac041

By:

Valenzuela, Isabel Martinez-Pena y;
Chen, Po-Ju;
Barden, Joseph;
Kosloski, Olivia;
Akaaboune, Mohammed

Publication type:

Article

Long-term vitamin A supplementation in a preclinical mouse model for RhoD190N-associated retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2438, doi. 10.1093/hmg/ddac032

By:

Cui, Xuan;
Kim, Hye Jin;
Cheng, Chia-Hua;
Jenny, Laura A;
Carvalho, Jose Ronaldo Lima de;
Chang, Ya-Ju;
Kong, Yang;
Hsu, Chun-Wei;
Huang, I-Wen;
Ragi, Sara D;
Lin, Chyuan-Sheng;
Li, Xiaorong;
Sparrow, Janet R;
Tsang, Stephen H

Publication type:

Article

Proteomic profiling identifies novel proteins for genetic risk of severe COVID-19: the Atherosclerosis Risk in Communities Study.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2452, doi. 10.1093/hmg/ddac024

By:

Steffen, Brian T;
Pankow, James S;
Lutsey, Pamela L;
Demmer, Ryan T;
Misialek, Jeffrey R;
Guan, Weihua;
Cowan, Logan T;
Coresh, Josef;
Norby, Faye L;
Tang, Weihong

Publication type:

Article

Association with HLA-DRβ1 position 37 distinguishes juvenile dermatomyositis from adult-onset myositis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2471, doi. 10.1093/hmg/ddac019

By:

Deakin, Claire T;
Bowes, John;
Rider, Lisa G;
Miller, Frederick W;
Pachman, Lauren M;
Sanner, Helga;
Rouster-Stevens, Kelly;
Mamyrova, Gulnara;
Curiel, Rodolfo;
Feldman, Brian M;
Huber, Adam M;
Reed, Ann M;
Schmeling, Heinrike;
Cook, Charlotte G;
Marshall, Lucy R;
Wilkinson, Meredyth G Ll;
Eyre, Stephen;
Raychaudhuri, Soumya;
Wedderburn, Lucy R;
Study, the Juvenile Dermatomyositis Cohort and Biomarker

Publication type:

Article

ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2295, doi. 10.1093/hmg/ddac027

By:

Epting, Daniel;
Decker, Eva;
Ott, Elisabeth;
Eisenberger, Tobias;
Bader, Ingrid;
Bachmann, Nadine;
Bergmann, Carsten

Publication type:

Article

Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2333, doi. 10.1093/hmg/ddac011

By:

Rowland, Bryce;
Venkatesh, Sanan;
Tardaguila, Manuel;
Wen, Jia;
Rosen, Jonathan D;
Tapia, Amanda L;
Sun, Quan;
Graff, Mariaelisa;
Vuckovic, Dragana;
Lettre, Guillaume;
Sankaran, Vijay G;
Voloudakis, Georgios;
Roussos, Panos;
Huffman, Jennifer E;
Reiner, Alexander P;
Soranzo, Nicole;
Raffield, Laura M;
Li, Yun

Publication type:

Article

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2307, doi. 10.1093/hmg/ddab366

By:

Green, Timothy E;
Motelow, Joshua E;
Bennett, Mark F;
Ye, Zimeng;
Bennett, Caitlin A;
Griffin, Nicole G;
Damiano, John A;
Leventer, Richard J;
Freeman, Jeremy L;
Harvey, A Simon;
Lockhart, Paul J;
Sadleir, Lynette G;
Boys, Amber;
Scheffer, Ingrid E;
Major, Heather;
Darbro, Benjamin W;
Bahlo, Melanie;
Goldstein, David B;
Kerrigan, John F;
Heinzen, Erin L

Publication type:

Article

Accounting for nonlinear effects of gene expression identifies additional associated genes in transcriptome-wide association studies.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 14, p. 2462, doi. 10.1093/hmg/ddac015

By:

Lin, Zhaotong;
Xue, Haoran;
Malakhov, Mykhaylo M;
Knutson, Katherine A;
Pan, Wei

Publication type:

Article