Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 14

Results: 14

Corrigendum: Perinatal G jb2 gene transfer rescues hearing in a mouse model of hereditary deafness.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2458, doi. 10.1093/hmg/ddz041

By:

Iizuka, Takashi;
Kamiya, Kazusaku;
Gotoh, Satoru;
Sugitani, Yoshinobu;
Suzuki, Masaaki;
Noda, Tetsuo;
Minowa, Osamu;
Ikeda, Katsuhisa

Publication type:

Article

A30P α -synuclein mutation decreases subventricular zone proliferation.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2283, doi. 10.1093/hmg/ddz057

By:

Zhang, Xue-Ming;
Anwar, Sabina;
Kim, Yongsoo;
Brown, Jennifer;
Comte, Isabelle;
Cai, Huan;
Cai, Ning-Ning;
Wade-Martins, Richard;
Szele, Francis G

Publication type:

Article

Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2365, doi. 10.1093/hmg/ddz064

By:

Saha, Madhurima;
Rizzo, Skylar A;
Ramanathan, Manashwi;
Hightower, Rylie M;
Santostefano, Katherine E;
Terada, Naohiro;
Finkel, Richard S;
Berg, Jonathan S;
Chahin, Nizar;
Pacak, Christina A;
Wagner, Richard E;
Alexander, Matthew S;
Draper, Isabelle;
Kang, Peter B

Publication type:

Article

Tbx1 regulates extracellular matrix-cell interactions in the second heart field.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2295, doi. 10.1093/hmg/ddz058

By:

Alfano, Daniela;
Altomonte, Alessandra;
Cortes, Claudio;
Bilio, Marchesa;
Kelly, Robert G;
Baldini, Antonio

Publication type:

Article

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2339, doi. 10.1093/hmg/ddz059

By:

McMacken, Grace M;
Spendiff, Sally;
Whittaker, Roger G;
O'Connor, Emily;
Howarth, Rachel M;
Boczonadi, Veronika;
Horvath, Rita;
Slater, Clarke R;
Lochmüller, Hanns

Publication type:

Article

Rare variants in MYH15 modify amyotrophic lateral sclerosis risk.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2309, doi. 10.1093/hmg/ddz063

By:

Kim, Hyerim;
Lim, Junghwa;
Bao, Han;
Jiao, Bin;
Canon, Se Min;
Epstein, Michael P;
Xu, Keqin;
Jiang, Jie;
Parameswaran, Janani;
Li, Yingjie;
Moberg, Kenneth H;
Landers, John E;
Fournier, Christina;
Allen, Emily G;
Glass, Jonathan D;
Wingo, Thomas S;
Jin, Peng

Publication type:

Article

Robinow syndrome skeletal phenotypes caused by the WNT5A C83S variant are due to dominant interference with chondrogenesis.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2395, doi. 10.1093/hmg/ddz071

By:

Gignac, Sarah J;
Hosseini-Farahabadi, Sara;
Akazawa, Takashi;
Schuck, Nathan J;
Fu, Katherine;
Richman, Joy M

Publication type:

Article

Population-based analysis of BAP1 germline variations in patients with uveal melanoma.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2415, doi. 10.1093/hmg/ddz076

By:

Repo, Pauliina;
Järvinen, Reetta-Stiina;
Jäntti, Johannes E;
Markkinen, Salla;
Täll, Martin;
Raivio, Virpi;
Turunen, Joni A;
Kivelä, Tero T

Publication type:

Article

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2319, doi. 10.1093/hmg/ddz066

By:

Hamanaka, Kohei;
Takata, Atsushi;
Uchiyama, Yuri;
Miyatake, Satoko;
Miyake, Noriko;
Mitsuhashi, Satomi;
Iwama, Kazuhiro;
Fujita, Atsushi;
Imagawa, Eri;
Alkanaq, Ahmed N;
Koshimizu, Eriko;
Azuma, Yoshiki;
Nakashima, Mitsuko;
Mizuguchi, Takeshi;
Saitsu, Hirotomo;
Wada, Yuka;
Minami, Sawako;
Katoh-Fukui, Yuko;
Masunaga, Yohei;
Fukami, Maki

Publication type:

Article

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2378, doi. 10.1093/hmg/ddz060

By:

El-Bazzal, Lara;
Rihan, Khalil;
Bernard-Marissal, Nathalie;
Castro, Christel;
Chouery-Khoury, Eliane;
Desvignes, Jean-Pierre;
Atkinson, Alexandre;
Bertaux, Karine;
Koussa, Salam;
Lévy, Nicolas;
Bartoli, Marc;
Mégarbané, André;
Jabbour, Rosette;
Delague, Valérie

Publication type:

Article

MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2330, doi. 10.1093/hmg/ddz065

By:

Yadava, Ramesh S;
Kim, Yun K;
Mandal, Mahua;
Mahadevan, Karunasai;
Gladman, Jordan T;
Yu, Qing;
Mahadevan, Mani S

Publication type:

Article

Docosahexaenoic acid reduces microglia phagocytic activity via miR-124 and induces neuroprotection in rodent models of spinal cord contusion injury.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2427, doi. 10.1093/hmg/ddz073

By:

Yip, Ping K;
Bowes, Amy L;
Hall, Jodie C E;
Burguillos, Miguel A;
Ip, T H Richard;
Baskerville, Tracey;
Liu, Zhuo-Hao;
Mohamed, Moumin A E K;
Getachew, Fanuelle;
Lindsay, Anna D;
Najeeb, Saif-Ur-Rehman;
Popovich, Phillip G;
Priestley, John V;
Michael-Titus, Adina T

Publication type:

Article

genome-wide association study of bitter and sweet beverage consumption.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2449, doi. 10.1093/hmg/ddz061

By:

Zhong, Victor W;
Kuang, Alan;
Danning, Rebecca D;
Kraft, Peter;
Dam, Rob M van;
Chasman, Daniel I;
Cornelis, Marilyn C

Publication type:

Article

Exploring the cross-phenotype network region of disease modules reveals concordant and discordant pathways between chronic obstructive pulmonary disease and idiopathic pulmonary fibrosis.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 14, p. 2352, doi. 10.1093/hmg/ddz069

By:

Halu, Arda;
Liu, Shikang;
Baek, Seung Han;
Hobbs, Brian D;
Hunninghake, Gary M;
Cho, Michael H;
Silverman, Edwin K;
Sharma, Amitabh

Publication type:

Article