Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 17

Results: 13

Correction to: Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.

Published in:: Human Molecular Genetics, 2022, v. 31, n. 17, p. 3020, doi. 10.1093/hmg/ddac154
Publication type:: Article

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 3001, doi. 10.1093/hmg/ddac089

By:

Yngvadottir, Bryndis;
Andreou, Avgi;
Bassaganyas, Laia;
Larionov, Alexey;
Cornish, Alex J;
Chubb, Daniel;
Saunders, Charlie N;
Smith, Philip S;
Zhang, Huairen;
Cole, Yasemin;
Consortium, Genomics England Research;
Larkin, James;
Browning, Lisa;
Turajlic, Samra;
Litchfield, Kevin;
Houlston, Richard S;
Maher, Eamonn R

Publication type:

Article

Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 2964, doi. 10.1093/hmg/ddac087

By:

Echevarria-Cooper, Dennis M;
Hawkins, Nicole A;
Misra, Sunita N;
Huffman, Alexandra M;
Thaxton, Tyler;
Thompson, Christopher H;
Ben-Shalom, Roy;
Nelson, Andrew D;
Lipkin, Anna M;
Jr, Alfred L George;
Bender, Kevin J;
Kearney, Jennifer A

Publication type:

Article

animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 2951, doi. 10.1093/hmg/ddac086

By:

Hu, Yalan;
Lauffer, Peter;
Stewart, Michelle;
Codner, Gemma;
Mayerl, Steffen;
Heuer, Heike;
Ng, Lily;
Forrest, Douglas;
Trotsenburg, Paul van;
Jongejan, Aldo;
Fliers, Eric;
Hennekam, Raoul;
Boelen, Anita

Publication type:

Article

Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 2899, doi. 10.1093/hmg/ddac082

By:

Caballero, Madison;
Ge, Tiffany;
Rebelo, Ana Rita;
Seo, Seungmae;
Kim, Sean;
Brooks, Kayla;
Zuccaro, Michael;
Kanagaraj, Radhakrishnan;
Vershkov, Dan;
Kim, Dongsung;
Smogorzewska, Agata;
Smolka, Marcus;
Benvenisty, Nissim;
West, Stephen C;
Egli, Dieter;
Mace, Emily M;
Koren, Amnon

Publication type:

Article

microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 2934, doi. 10.1093/hmg/ddac085

By:

Barish, Scott;
Senturk, Mumine;
Schoch, Kelly;
Minogue, Amanda L;
Lopergolo, Diego;
Fallerini, Chiara;
Harland, Jake;
Seemann, Jacob H;
Stong, Nicholas;
Kranz, Peter G;
Kansagra, Sujay;
Mikati, Mohamad A;
Jasien, Joan;
El-Dairi, Mays;
Galluzzi, Paolo;
Network, Undiagnosed Diseases;
Ariani, Francesca;
Renieri, Alessandra;
Mari, Francesca;
Wangler, Michael F

Publication type:

Article

Phenome-wide screening of the putative causal determinants of depression using genetic data.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 2887, doi. 10.1093/hmg/ddac081

By:

Aman, Asma M;
García-Marín, Luis M;
Thorp, Jackson G;
Campos, Adrian I;
Cuellar-Partida, Gabriel;
Martin, Nicholas G;
Rentería, Miguel E

Publication type:

Article

Alpha-synucleinopathy reduces NMNAT3 protein levels and neurite formation that can be rescued by targeting the NAD+ pathway.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 2918, doi. 10.1093/hmg/ddac077

By:

Parsons, Richard B;
Kocinaj, Altin;
Pulido, Gustavo Ruiz;
Prendergast, Sarah A;
Parsons, Anna E;
Facey, Paul D;
Hirth, Frank

Publication type:

Article

Caspar, an adapter for VAPB and TER94, modulates the progression of ALS8 by regulating IMD/NFκB-mediated glial inflammation in a Drosophila model of human disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 2857, doi. 10.1093/hmg/ddac076

By:

Tendulkar, Shweta;
Hegde, Sushmitha;
Garg, Lovleen;
Thulasidharan, Aparna;
Kaduskar, Bhagyashree;
Ratnaparkhi, Anuradha;
Ratnaparkhi, Girish S

Publication type:

Article

Genetic architecture of RNA editing regulation in Alzheimer's disease across diverse ancestral populations.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 2876, doi. 10.1093/hmg/ddac075

By:

Gardner, Olivia K;
Booven, Derek Van;
Wang, Lily;
Gu, Tianjie;
Hofmann, Natalia K;
Whitehead, Patrice L;
Nuytemans, Karen;
Hamilton-Nelson, Kara L;
Adams, Larry D;
Starks, Takiyah D;
Cuccaro, Michael L;
Martin, Eden R;
Vance, Jeffery M;
Bush, William S;
Byrd, Goldie S;
Haines, Jonathan L;
Beecham, Gary W;
Pericak-Vance, Margaret A;
Griswold, Anthony J

Publication type:

Article

Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 2845, doi. 10.1093/hmg/ddac074

By:

Castaneda-Garcia, Carolina;
Iyer, Vivek;
Nsengimana, Jérémie;
Trower, Adam;
Droop, Alastair;
Brown, Kevin M;
Choi, Jiyeon;
Zhang, Tongwu;
Harland, Mark;
Newton-Bishop, Julia A;
Bishop, D Timothy;
Adams, David J;
Iles, Mark M;
Robles-Espinoza, Carla Daniela

Publication type:

Article

combinatorial approach increases SMN level in SMA model mice.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 2989, doi. 10.1093/hmg/ddac068

By:

Dumas, Samantha A;
Villalón, Eric;
Bergman, Elizabeth M;
Wilson, Kenneth J;
Marugan, Juan J;
Lorson, Christian L;
Burnett, Barrington G

Publication type:

Article

genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 17, p. 3012, doi. 10.1093/hmg/ddac048

By:

Patasova, Karina;
Khawaja, Anthony P;
Wojciechowski, Robert;
Mahroo, Omar A;
Falchi, Mario;
Rahi, Jugnoo S;
Hammond, Chris J;
Hysi, Pirro G;
Consortium, the UK Biobank Eye & Vision

Publication type:

Article