Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 19

Results: 13

Impact of fetal expression quantitative trait loci on transcriptome-wide association study of childhood leukemia.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3207, doi. 10.1093/hmg/ddab336

By:

Yang, Tianzhong;
Mills, Lauren J;
Xue, Haoran;
Raduski, Andrew;
Williams, Lindsay A;
Spector, Logan G

Publication type:

Article

Genetic and pharmacological PARP inhibition reduces axonal degeneration in C. elegans models of ALS.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3313, doi. 10.1093/hmg/ddac116

By:

Tossing, Gilles;
Livernoche, Raphaël;
Maios, Claudia;
Bretonneau, Constantin;
Labarre, Audrey;
Parker, J Alex

Publication type:

Article

Genotype–phenotype correlation of T-cell subtypes reveals senescent and cytotoxic genes in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3355, doi. 10.1093/hmg/ddac126

By:

Dressman, Dallin;
Buttrick, Thomas;
Cimpean, Maria;
Bennett, David;
Menon, Vilas;
Bradshaw, Elizabeth M;
Vardarajan, Badri;
Elyaman, Wassim

Publication type:

Article

Hippocampals neurogenesis is impaired in mice with a deletion in the coiled coil domain of Talpid3—implications for Joubert syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3245, doi. 10.1093/hmg/ddac095

By:

Bashford, Andrew L;
Subramanian, Vasanta

Publication type:

Article

Identifying candidate genes and drug targets for Alzheimer's disease by an integrative network approach using genetic and brain region-specific proteomic data.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3341, doi. 10.1093/hmg/ddac124

By:

Liu, Andi;
Manuel, Astrid M;
Dai, Yulin;
Fernandes, Brisa S;
Enduru, Nitesh;
Jia, Peilin;
Zhao, Zhongming

Publication type:

Article

Whole exome sequencing of known eye genes reveals genetic causes for high myopia.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3290, doi. 10.1093/hmg/ddac113

By:

Haarman, Annechien E G;
Thiadens, Alberta A H J;
Tienhoven, Marianne van;
Loudon, Sjoukje E;
Klein, J E M M Annelies de;
Brosens, Erwin;
Polling, Jan Roelof;
van der Schoot, Vyne;
Bouman, Arjan;
Kievit, Anneke J A;
Hoefsloot, Lies H;
Klaver, Caroline C W;
Verhoeven, Virginie J M

Publication type:

Article

Tracing genetic connections of ancient Hungarians to the 6th–14th century populations of the Volga-Ural region.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3266, doi. 10.1093/hmg/ddac106

By:

Szeifert, Bea;
Gerber, Dániel;
Csáky, Veronika;
Langó, Péter;
Stashenkov, Dmitrii A;
Khokhlov, Aleksandr A;
Sitdikov, Ayrat G;
Gazimzyanov, Ilgizar R;
Volkova, Elizaveta V;
Matveeva, Natalia P;
Zelenkov, Alexander S;
Poshekhonova, Olga E;
Sleptsova, Anastasiia V;
Karacharov, Konstantin G;
Ilyushina, Viktoria V;
Konikov, Boris A;
Sungatov, Flarit A;
Kolonskikh, Alexander G;
Botalov, Sergei G;
Grudochko, Ivan V

Publication type:

Article

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3325, doi. 10.1093/hmg/ddac114

By:

Cordovado, Amélie;
Schaettin, Martina;
Jeanne, Médéric;
Panasenkava, Veranika;
Denommé-Pichon, Anne-Sophie;
Keren, Boris;
Mignot, Cyril;
Doco-Fenzy, Martine;
Rodan, Lance;
Ramsey, Keri;
Narayanan, Vinodh;
Jones, Julie R;
Prijoles, Eloise J;
Mitchell, Wendy G;
Ozmore, Jillian R;
Juliette, Kali;
Torti, Erin;
Normand, Elizabeth A;
Granger, Leslie;
Petersen, Andrea K

Publication type:

Article

Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3299, doi. 10.1093/hmg/ddac109

By:

Liang, Min;
Ji, Yanchun;
Zhang, Liyao;
Wang, Xuan;
Hu, Cuifang;
Zhang, Juanjuan;
Zhu, Yiwei;
Mo, Jun Q;
Guan, Min-Xin

Publication type:

Article

Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3281, doi. 10.1093/hmg/ddac107

By:

Sedes, Lauriane;
Wondimu, Elisa;
Crockett, Brittany;
Hansen, Jens;
Cantalupo, Anna;
Asano, Keiichi;
Iyengar, Ravi;
Rifkin, Daniel B;
Smaldone, Silvia;
Ramirez, Francesco

Publication type:

Article

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3231, doi. 10.1093/hmg/ddac053

By:

Chung, Hyung-Lok;
Rump, Patrick;
Lu, Di;
Glassford, Megan R;
Mok, Jung-Wan;
Fatih, Jawid;
Basal, Adily;
Marcogliese, Paul C;
Kanca, Oguz;
Rapp, Michele;
Fock, Johanna M;
Kamsteeg, Erik-Jan;
Lupski, James R;
Larson, Austin;
Haninbal, Mark C;
Bellen, Hugo;
Harel, Tamar

Publication type:

Article

epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3216, doi. 10.1093/hmg/ddab338

By:

Zhou, Jing;
Liang, Wenpeng;
Wang, Jie;
Chen, Juan;
Liu, Dong;
Wang, Xin;
Wu, Youjia;
Zhang, Qi;
Shen, Dingding

Publication type:

Article

First mitochondrial genome-wide association study with metabolomics.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 19, p. 3367, doi. 10.1093/hmg/ddab312

By:

Aboulmaouahib, Brahim;
Kastenmüller, Gabi;
Suhre, Karsten;
Zöllner, Sebastian;
Weissensteiner, Hansi;
Prehn, Cornelia;
Adamski, Jerzy;
Gieger, Christian;
Wang-Sattler, Rui;
Lichtner, Peter;
Strauch, Konstantin;
Flaquer, Antònia

Publication type:

Article