Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 14

Results: 12

Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2326, doi. 10.1093/hmg/ddad070

By:

Zeng, Yang;
Chen, Biaobang;
Sun, Yiming;
Yang, Aijun;
Wu, Ling;
Li, Bin;
Mu, Jian;
Zhang, Zhihua;
Wang, Wenjing;
Zhou, Zhou;
Dong, Jie;
Liu, Ruyi;
Luo, Yuxi;
Sun, Xiaoxi;
Sang, Qing;
Kuang, Yanping;
Wang, Lei

Publication type:

Article

Time-varying effects are common in genetic control of gestational duration.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2399, doi. 10.1093/hmg/ddad086

By:

Juodakis, Julius;
Ytterberg, Karin;
Flatley, Christopher;
Sole-Navais, Pol;
Jacobsson, Bo

Publication type:

Article

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2373, doi. 10.1093/hmg/ddad081

By:

Teunissen, Maria W A;
Lewerissa, Elly;
Hugte, Eline J H van;
Wang, Shan;
Ockeloen, Charlotte W;
Koolen, David A;
Pfundt, Rolph;
Marcelis, Carlo L M;
Brilstra, Eva;
Howe, Jennifer L;
Scherer, Stephen W;
Guillou, Xavier Le;
Bilan, Frédéric;
Primiano, Michelle;
Roohi, Jasmin;
Piton, Amelie;
Martin, Anne de Saint;
Baer, Sarah;
Seiffert, Simone;
Platzer, Konrad

Publication type:

Article

Gallbladder cancer-associated genetic variants rs1003349 and rs1004030 regulate MMP14 expression by altering SOX10- and MYB-binding sites.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2357, doi. 10.1093/hmg/ddad077

By:

J, Vinay;
Palo, Ananya;
Besra, Kusumbati;
Dixit, Manjusha

Publication type:

Article

Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2347, doi. 10.1093/hmg/ddad076

By:

Zhao, Xue-Jun;
Mohsen, Ai-Walid;
Mihalik, Stephanie;
Solo, Keaton;
Basu, Shakuntala;
Aliu, Ermal;
Shi, Huifang;
Kochersberger, Catherine;
Karunanidhi, Anuradha;
Land, Clinton Van't;
Coughlan, Kimberly A;
Siddiqui, Summar;
Rice, Lisa M;
Hillier, Shawn;
Guadagnin, Eleonora;
DeAntonis, Christine;
Giangrande, Paloma H;
Martini, Paolo G V;
Vockley, Jerry

Publication type:

Article

A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2265, doi. 10.1093/hmg/ddad066

By:

Aburayyan, Amal;
Carlson, Ryan J;
Rabie, Grace N;
Lee, Ming K;
Gulsuner, Suleyman;
Walsh, Tom;
Avraham, Karen B;
Kanaan, Moien N;
King, Mary-Claire

Publication type:

Article

Congenital heart defects caused by FOXJ1.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2335, doi. 10.1093/hmg/ddad065

By:

Padua, Maria B;
Helm, Benjamin M;
Wells, John R;
Smith, Amanda M;
Bellchambers, Helen M;
Sridhar, Arthi;
Ware, Stephanie M

Publication type:

Article

ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2386, doi. 10.1093/hmg/ddad063

By:

Farrawell, Natalie E;
Bax, Monique;
McAlary, Luke;
McKenna, Jessie;
Maksour, Simon;
Do-Ha, Dzung;
Rayner, Stephanie L;
Blair, Ian P;
Chung, Roger S;
Yerbury, Justin J;
Ooi, Lezanne;
Saunders, Darren N

Publication type:

Article

Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2307, doi. 10.1093/hmg/ddad061

By:

Hua, Juan;
Xu, Bo;
Liu, Wenjing;
Shi, JingTian;
Jiang, Hui;
Zha, XiaoJun;
Zhang, Xiansheng;
Wan, Yangyang

Publication type:

Article

Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2318, doi. 10.1093/hmg/ddad053

By:

Katoh-Fukui, Yuko;
Hattori, Atsushi;
Zhang, Ruogu;
Terao, Miho;
Takada, Shuji;
Nakabayashi, Kazuhiko;
Hata, Kenichiro;
Yamada, Yutaka;
Matsuura, Nobuo;
Fukami, Maki

Publication type:

Article

Sut-6/NIPP1 modulates tau toxicity.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2292, doi. 10.1093/hmg/ddad049

By:

Kow, R L;
Black, A H;
Henderson, B P;
Kraemer, B C

Publication type:

Article

The HSPB1-p62/SQSTM1 functional complex regulates the unconventional secretion and transcellular spreading of the HD-associated mutant huntingtin protein.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 14, p. 2269, doi. 10.1093/hmg/ddad047

By:

Bonavita, R;
Scerra, G;
Martino, R Di;
Nuzzo, S;
Polishchuk, E;
Gennaro, M Di;
Williams, S V;
Caporaso, M G;
Caiazza, C;
Polishchuk, R;
D'Agostino, M;
Fleming, A;
Renna, M

Publication type:

Article