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

Results: 13

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
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
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
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
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
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
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
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
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
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