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