Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 10

Results: 13

Deletion of the Impg2 gene causes the degeneration of rod and cone cells in mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1624, doi. 10.1093/hmg/ddaa062

By:

Xu, Huijuan;
Qu, Chao;
Gan, Li;
Sun, Kuanxiang;
Tan, Junkai;
Liu, Xuyang;
Jiang, Zhilin;
Tian, Wanli;
Liu, Wenjing;
Zhang, Shanshan;
Yang, Yeming;
Jiang, Li;
Zhu, Xianjun;
Zhang, Lin

Publication type:

Article

Ngly1<sup>−/−</sup> rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1635, doi. 10.1093/hmg/ddaa059

By:

Asahina, Makoto;
Fujinawa, Reiko;
Nakamura, Sayuri;
Yokoyama, Kotaro;
Tozawa, Ryuichi;
Suzuki, Tadashi

Publication type:

Article

Increased nuclear but not cytoplasmic activities of CELF1 protein leads to muscle wasting.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1729, doi. 10.1093/hmg/ddaa095

By:

Cox, Diana C;
Guan, Xiangnan;
Xia, Zheng;
Cooper, Thomas A

Publication type:

Article

Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1700, doi. 10.1093/hmg/ddaa086

By:

Madhivanan, Kayalvizhi;
Ramadesikan, Swetha;
Hsieh, Wen-Chieh;
Aguilar, Mariana C;
Hanna, Claudia B;
Bacallao, Robert L;
Aguilar, R Claudio

Publication type:

Article

Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1689, doi. 10.1093/hmg/ddaa082

By:

Pantera, Harrison;
Hu, Bo;
Moiseev, Daniel;
Dunham, Chris;
Rashid, Jibraan;
Moran, John J;
Krentz, Kathleen;
Rubinstein, C Dustin;
Won, Seongsik;
Li, Jun;
Svaren, John

Publication type:

Article

Glucocerebrosidase deficiency promotes release of α-synuclein fibrils from cultured neurons.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1716, doi. 10.1093/hmg/ddaa085

By:

Gegg, Matthew E;
Verona, Guglielmo;
Schapira, Anthony H V

Publication type:

Article

Twist1 induces chromosomal instability (CIN) in colorectal cancer cells.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1673, doi. 10.1093/hmg/ddaa076

By:

Khot, Maithilee;
Sreekumar, Dyuthi;
Jahagirdar, Sanika;
Kulkarni, Apoorva;
Hari, Kishore;
Faseela, Elangoli Ebrahimkutty;
Sabarinathan, Radhakrishnan;
Jolly, Mohit Kumar;
Sengupta, Kundan

Publication type:

Article

ALS-associated genes in SCA2 mouse spinal cord transcriptomes.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1658, doi. 10.1093/hmg/ddaa072

By:

Scoles, Daniel R;
Dansithong, Warunee;
Pflieger, Lance T;
Paul, Sharan;
Gandelman, Mandi;
Figueroa, Karla P;
Rigo, Frank;
Bennett, C Frank;
Pulst, Stefan M

Publication type:

Article

Otx2b mutant zebrafish have pituitary, eye and mandible defects that model mammalian disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1648, doi. 10.1093/hmg/ddaa064

By:

Bando, Hironori;
Gergics, Peter;
Bohnsack, Brenda L;
Toolan, Kevin P;
Richter, Catherine E;
Shavit, Jordan A;
Camper, Sally A

Publication type:

Article

Transcriptome changes during the initiation and progression of Duchenne muscular dystrophy in Caenorhabditis elegans.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1607, doi. 10.1093/hmg/ddaa055

By:

Hrach, Heather C;
O'Brien, Shannon;
Steber, Hannah S;
Newbern, Jason;
Rawls, Alan;
Mangone, Marco

Publication type:

Article

Genome-wide assessment of genetic risk for systemic lupus erythematosus and disease severity.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1745, doi. 10.1093/hmg/ddaa030

By:

Chen, Lingyan;
Wang, Yong-Fei;
Liu, Lu;
Bielowka, Adrianna;
Ahmed, Rahell;
Zhang, Huoru;
Tombleson, Phil;
Roberts, Amy L;
Odhams, Christopher A;
Graham, Deborah S Cunninghame;
Zhang, Xuejun;
Yang, Wanling;
Vyse, Timothy J;
Morris, David L

Publication type:

Article

Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1581, doi. 10.1093/hmg/ddaa026

By:

Bicak, Mesude;
Wang, Xing;
Gao, Xiaoni;
Xu, Xing;
Väänänen, Riina-Minna;
Taimen, Pekka;
Lilja, Hans;
Pettersson, Kim;
Klein, Robert J

Publication type:

Article

Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 10, p. 1592, doi. 10.1093/hmg/ddaa042

By:

Davies, Faith C J;
Hope, Jilly E;
McLachlan, Fiona;
Marshall, Grant F;
Kaminioti-Dumont, Laura;
Qarkaxhija, Vesa;
Nunez, Francis;
Dando, Owen;
Smith, Colin;
Wood, Emma;
MacDonald, Josephine;
Hardt, Oliver;
Abbott, Catherine M

Publication type:

Article