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

Results: 12

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
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
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