Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 10

Results: 14

Normal range CAG repeat size variations in the HTT gene are associated with an adverse lipoprotein profile partially mediated by body mass index.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1741, doi. 10.1093/hmg/ddad020

By:

Faquih, Tariq O;
Aziz, N Ahmad;
Gardiner, Sarah L;
Li-Gao, Ruifang;
Mutsert, Renée de;
Milaneschi, Yuri;
Trompet, Stella;
Jukema, J Wouter;
Rosendaal, Frits R;
Vlieg, Astrid van Hylckama;
Dijk, Ko Willems van;
Mook-Kanamori, Dennis O

Publication type:

Article

SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1753, doi. 10.1093/hmg/ddad015

By:

Pagni, Susanna;
Custodio, Helena Martins;
Frankish, Adam;
Mudge, Jonathan M;
Mills, James D;
Sisodiya, Sanjay M

Publication type:

Article

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1722, doi. 10.1093/hmg/ddad014

By:

Wang, Xinying;
Chen, Danna;
Zhao, Yaguang;
Men, Meichao;
Chen, Zhiheng;
Jiang, Fang;
Zheng, Ruizhi;
Stamou, Maria I;
Plummer, Lacey;
Balasubramanian, Ravikumar;
Li, Jia-Da

Publication type:

Article

Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1730, doi. 10.1093/hmg/ddad013

By:

Liu, Yiyuan;
Li, Yuqian;
Meng, Lanlan;
Li, Kuokuo;
Gao, Yang;
Lv, Mingrong;
Guo, Rui;
Xu, Yuping;
Zhou, Ping;
Wei, Zhaolian;
He, Xiaojin;
Cao, Yunxia;
Wu, Huan;
Tan, Yueqiu;
Hua, Rong

Publication type:

Article

NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1711, doi. 10.1093/hmg/ddad011

By:

Casey, Jennifer G;
Kim, Euri S;
Joseph, Remi;
Li, Frank;
Granzier, Henk;
Gupta, Vandana A

Publication type:

Article

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1683, doi. 10.1093/hmg/ddad008

By:

Hayashi, Takahiro;
Yano, Naoko;
Kora, Kengo;
Yokoyama, Atsushi;
Maizuru, Kanako;
Kayaki, Taisei;
Nishikawa, Kinuko;
Osawa, Mitsujiro;
Niwa, Akira;
Takenouchi, Toshiki;
Hijikata, Atsushi;
Shirai, Tsuyoshi;
Suzuki, Hisato;
Kosaki, Kenjiro;
Saito, Megumu K;
Takita, Junko;
Yoshida, Takeshi

Publication type:

Article

Single-cell RNA sequencing reveals transcriptional changes of human choroidal and retinal pigment epithelium cells during fetal development, in healthy adult and intermediate age-related macular degeneration.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1698, doi. 10.1093/hmg/ddad007

By:

Collin, Joseph;
Hasoon, Megan S R;
Zerti, Darin;
Hammadi, Sarah;
Dorgau, Birthe;
Clarke, Lucy;
Steel, David;
Hussain, Rafiqul;
Coxhead, Jonathan;
Lisgo, Steven;
Queen, Rachel;
Lako, Majlinda

Publication type:

Article

Slingshot homolog-1 amplifies mitochondrial abnormalities by distinctly impairing health and clearance of mitochondria.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1660, doi. 10.1093/hmg/ddad006

By:

Cazzaro, Sara;
Zhao, Xingyu;
Zhao, Victoria K;
Kim, Yenna K;
Woo, Jung-A A

Publication type:

Article

Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1647, doi. 10.1093/hmg/ddad004

By:

Figueroa, Karla P;
Anderson, Collin J;
Paul, Sharan;
Dansithong, Warunee;
Gandelman, Mandi;
Scoles, Daniel R;
Pulst, Stefan M

Publication type:

Article

Loss of TMCC2 activates endoplasm reticulum stress and causes auditory hair cell death.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1622, doi. 10.1093/hmg/ddad003

By:

Ren, Rui;
Xing, Haiyue;
Wang, Xiaoying;
Du, Haibo;
Wang, Yanfei;
Xu, Zhigang

Publication type:

Article

Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of autism spectrum disorder.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1634, doi. 10.1093/hmg/ddad002

By:

Leung, Calvin S;
Rosenzweig, Shoshana J;
Yoon, Brian;
Marinelli, Nicholas A;
Hollingsworth, Ethan W;
Maguire, Abbie M;
Cowen, Mara H;
Schmidt, Michael;
Imitola, Jaime;
Uzun, Ece D Gamsiz;
Lizarraga, Sofia B

Publication type:

Article

G3BP1-dependent mechanism suppressing protein aggregation in Huntington's models and its demise upon stress granule assembly.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1607, doi. 10.1093/hmg/ddac304

By:

Gutiérrez-Garcia, Ricardo;
Koyuncu, Seda;
Hommen, Franziska;
Bilican, Saygın;
Lee, Hyun Ju;
Fatima, Azra;
Vilchez, David

Publication type:

Article

Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1589, doi. 10.1093/hmg/ddac300

By:

Fu, Chen;
Ngo, Justine;
Zhang, Shanshan;
Lu, Leina;
Miron, Alexander;
Schafer, Simon;
Gage, Fred H;
Jin, Fulai;
Schumacher, Fredrick R;
Wynshaw-Boris, Anthony

Publication type:

Article

Therapeutic reduction of GGGGCC repeat RNA levels by hnRNPA3 suppresses neurodegeneration in Drosophila models of C9orf72-linked ALS/FTD.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 10, p. 1673, doi. 10.1093/hmg/ddac298

By:

Taminato, Tomoya;
Takeuchi, Toshihide;
Ueyama, Morio;
Mori, Kohji;
Ikeda, Manabu;
Mochizuki, Hideki;
Nagai, Yoshitaka

Publication type:

Article