Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 12

Results: 17

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

Published in:: Human Molecular Genetics, 2023, v. 32, n. 12, p. 2118, doi. 10.1093/hmg/ddad045
Publication type:: Article

Cross-cancer pleiotropic analysis identifies three novel genetic risk loci for colorectal cancer.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 2093, doi. 10.1093/hmg/ddad044

By:

Sun, Jing;
Wang, Lijuan;
Zhou, Xuan;
Hu, Lidan;
Yuan, Shuai;
Bian, Zilong;
Chen, Jie;
Zhu, Yingshuang;
Farrington, Susan M;
Campbell, Harry;
Ding, Kefeng;
Zhang, Dongfeng;
Dunlop, Malcolm G;
Theodoratou, Evropi;
Li, Xue

Publication type:

Article

GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 2103, doi. 10.1093/hmg/ddad043

By:

Koel, Mariann;
Võsa, Urmo;
Jõeloo, Maarja;
Läll, Kristi;
Gualdo, Natàlia P;
Laivuori, Hannele;
Lemmelä, Susanna;
FinnGen, Estonian Biobank Research Team;;
Daly, Mark;
Palta, Priit;
Mägi, Reedik;
Laisk, Triin

Publication type:

Article

Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 2068, doi. 10.1093/hmg/ddad042

By:

Jensen, Helene H;
Frantzen, Magnus T;
Wesseltoft, Jonas L;
Busuioc, Ana-Octavia;
Møller, Katrine V;
Brohus, Malene;
Duun, Palle R;
Nyegaard, Mette;
Overgaard, Michael T;
Olsen, Anders

Publication type:

Article

Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 2055, doi. 10.1093/hmg/ddad041

By:

Wang, Suya;
Yazawa, Erika;
Keating, Erin M;
Mazumdar, Neil;
Hauschild, Alexander;
Ma, Qing;
Wu, Haiyan;
Xu, Yang;
Shi, Xu;
Strathdee, Douglas;
Gerszten, Robert E;
Schlame, Michael;
Pu, William T

Publication type:

Article

A partial reduction of Drp1 improves cognitive behavior and enhances mitophagy, autophagy and dendritic spines in a transgenic Tau mouse model of Alzheimer disease.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 12, p. 2119, doi. 10.1093/hmg/ddad040
Publication type:: Article

Variant spectrum of von Hippel–Lindau disease and its genomic heterogeneity in Japan.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 2046, doi. 10.1093/hmg/ddad039

By:

Tamura, Kenji;
Kanazashi, Yuki;
Kawada, Chiaki;
Sekine, Yuya;
Maejima, Kazuhiro;
Ashida, Shingo;
Karashima, Takashi;
Kojima, Shohei;
Parrish, Nickolas F;
Kosugi, Shunichi;
Terao, Chikashi;
Sasagawa, Shota;
Fujita, Masashi;
Johnson, Todd A;
Momozawa, Yukihide;
Inoue, Keiji;
Shuin, Taro;
Nakagawa, Hidewaki

Publication type:

Article

Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 12, p. 1945, doi. 10.1093/hmg/ddad038
Publication type:: Article

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 2084, doi. 10.1093/hmg/ddad035

By:

Evesson, Frances J;
Dziaduch, Gregory;
Bryen, Samantha J;
Moore, Francesca;
Pittman, Sara;
Devanapalli, Beena;
Waddell, Leigh B;
Ryan, Monique M;
Menezes, Manoj P;
Weihl, Conrad C;
Tolun, Adviye Ayper;
Zaidman, Craig;
Young, Helen;
Adès, Lesley C;
Cooper, Sandra T

Publication type:

Article

Integrator complex subunit 15 controls mRNA splicing and is critical for eye development.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 2032, doi. 10.1093/hmg/ddad034

By:

Azuma, Noriyuki;
Yokoi, Tadashi;
Tanaka, Taku;
Matsuzaka, Emiko;
Saida, Yuki;
Nishina, Sachiko;
Terao, Miho;
Takada, Shuji;
Fukami, Maki;
Okamura, Kohji;
Maehara, Kayoko;
Yamasaki, Tokiwa;
Hirayama, Jun;
Nishina, Hiroshi;
Handa, Hiroshi;
Yamaguchi, Yuki

Publication type:

Article

Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 2016, doi. 10.1093/hmg/ddad033

By:

Huang, Liping;
Yang, Zhongyue;
Kirschke, Catherine P;
Prouteau, Clément;
Copin, Marie-Christine;
Bonneau, Dominique;
Pellier, Isabelle;
Coutant, Régis;
Miot, Charline;
Ziegler, Alban

Publication type:

Article

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 2005, doi. 10.1093/hmg/ddad032

By:

Wen, Shu;
Wang, Meng;
Qian, Xinye;
Li, Yumei;
Wang, Keqing;
Choi, Jongsu;
Pennesi, Mark E;
Yang, Paul;
Marra, Molly;
Koenekoop, Robert K;
Lopez, Irma;
Matynia, Anna;
Gorin, Michael;
Sui, Ruifang;
Yao, Fengxia;
Goetz, Kerry;
Porto, Fernanda Belga Ottoni;
Chen, Rui

Publication type:

Article

N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1<sup>−/−</sup> zebrafish deletion models of Leigh syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 1988, doi. 10.1093/hmg/ddad031

By:

Haroon, Suraiya;
Yoon, Heeyong;
Seiler, Christoph;
Osei-Frimpong, Bruce;
He, Jie;
Nair, Rohini M;
Mathew, Neal D;
Burg, Leonard;
Kose, Melis;
Venkata, Chavali R M;
Anderson, Vernon E;
Nakamaru-Ogiso, Eiko;
Falk, Marni J

Publication type:

Article

Ranbp1 modulates morphogenesis of the craniofacial midline in mouse models of 22q11.2 deletion syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 1959, doi. 10.1093/hmg/ddad030

By:

Paronett, Elizabeth M;
Bryan, Corey A;
Maynard, Megan E;
Goroff, Julia A;
Meechan, Daniel W;
LaMantia, Anthony-Samuel;
Maynard, Thomas M

Publication type:

Article

Disease-associated mutations in Drp1 have fundamentally different effects on the mitochondrial fission machinery.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 1975, doi. 10.1093/hmg/ddad029

By:

Bauer, Brianna L;
Rochon, Kristy;
Liu, Jasmine C;
Ramachandran, Rajesh;
Mears, Jason A

Publication type:

Article

Correction to: Genomic analyses in African populations identify novel risk loci for cleft palate.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 12, p. 2117, doi. 10.1093/hmg/ddad027
Publication type:: Article

Genome-wide association study identifies novel candidate malaria resistance genes in Cameroon.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 12, p. 1946, doi. 10.1093/hmg/ddad026

By:

Esoh, Kevin K;
Apinjoh, Tobias O;
Amambua-Ngwa, Alfred;
Nyanjom, Steven G;
Chimusa, Emile R;
Amenga-Etego, Lucas;
Wonkam, Ambroise;
Achidi, Eric A

Publication type:

Article