Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 14

Results: 8

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 14, p. 1283, doi. 10.1093/hmg/ddab110

By:

Luo, Xi;
Schoch, Kelly;
Jangam, Sharayu V;
Bhavana, Venkata Hemanjani;
Graves, Hillary K;
Kansagra, Sujay;
Jasien, Joan M;
Stong, Nicholas;
Keren, Boris;
Mignot, Cyril;
Ravelli, Claudia;
Network, Undiagnosed Diseases;
Bellen, Hugo J;
Wangler, Michael F;
Shashi, Vandana;
Yamamoto, Shinya

Publication type:

Article

Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 14, p. 1293, doi. 10.1093/hmg/ddab122

By:

Lee, Winston;
Zernant, Jana;
Nagasaki, Takayuki;
Molday, Laurie L;
Su, Pei-Yin;
Fishman, Gerald A;
Tsang, Stephen H;
Molday, Robert S;
Allikmets, Rando

Publication type:

Article

Combined gene therapy via VEGF and mini-dystrophin synergistically improves pathologies in temporalis muscle of dystrophin/utrophin double knockout mice.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 14, p. 1349, doi. 10.1093/hmg/ddab120

By:

Xin, Can;
Chu, Xiangyu;
Wei, Wenzhong;
Kuang, Biao;
Wang, Yiqing;
Tang, Ying;
Chen, Jincao;
You, Hongbo;
Li, Chengwen;
Wang, Bing

Publication type:

Article

Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 14, p. 1337, doi. 10.1093/hmg/ddab113

By:

Ichise, Eisuke;
Chiyonobu, Tomohiro;
Ishikawa, Mitsuru;
Tanaka, Yasuyoshi;
Shibata, Mami;
Tozawa, Takenori;
Taura, Yoshihiro;
Yamashita, Satoshi;
Yoshida, Michiko;
Morimoto, Masafumi;
Higurashi, Norimichi;
Yamamoto, Toshiyuki;
Okano, Hideyuki;
Hirose, Shinichi

Publication type:

Article

Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 14, p. 1305, doi. 10.1093/hmg/ddab112

By:

Winter, Josine M de;
Gineste, Charlotte;
Minardi, Elisa;
Brocca, Lorenza;
Rossi, Maira;
Borsboom, Tamara;
Beggs, Alan H;
Bernard, Monique;
Bendahan, David;
Hwee, Darren T;
Malik, Fady I;
Pellegrino, Maria Antonietta;
Bottinelli, Roberto;
Gondin, Julien;
Ottenheijm, Coen A C

Publication type:

Article

Proteomic analysis identifies key differences in the cardiac interactomes of dystrophin and micro-dystrophin.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 14, p. 1321, doi. 10.1093/hmg/ddab133

By:

Wang, Hong;
Marrosu, Elena;
Brayson, Daniel;
Wasala, Nalinda B;
Johnson, Eric K;
Scott, Charlotte S;
Yue, Yongping;
Hau, Kwan-Leong;
Trask, Aaron J;
Froehner, Stan C;
Adams, Marvin E;
Zhang, Liwen;
Duan, Dongsheng;
Montanaro, Federica

Publication type:

Article

Pleiotropic effects of telomere length loci with brain morphology and brain tissue expression.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 14, p. 1360, doi. 10.1093/hmg/ddab102

By:

Pathak, Gita A;
Wendt, Frank R;
Levey, Daniel F;
Mecca, Adam P;
Dyck, Christopher H van;
Gelernter, Joel;
Polimanti, Renato

Publication type:

Article

mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 14, p. 1273, doi. 10.1093/hmg/ddab094

By:

Taylor, Henry;
Yerlioglu, Dilay;
Phen, Claudia;
Ballauff, Antje;
Nedelkopoulou, Natalia;
Spier, Isabel;
Loverdos, Inés;
Busoni, Veronica B;
Heise, Jürgen;
Dale, Peter;
Meij, Tim de;
Sweet, Kevin;
Cohen, Marta C;
Fox, Victor L;
Mas, Emmanuel;
Aretz, Stefan;
Eng, Charis;
Buderus, Stephan;
Thomson, Mike;
Rojas, Isabel

Publication type:

Article