Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 2

Results: 15

Embryonic myosin is a regeneration marker to monitor utrophin-based therapies for DMD.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 307, doi. 10.1093/hmg/ddy353

By:

Guiraud, Simon;
Edwards, Benjamin;
Squire, Sarah E;
Moir, Lee;
Berg, Adam;
Babbs, Arran;
Ramadan, Nesrine;
Wood, Matthew J;
Davies, Kay E

Publication type:

Article

Loss of MeCP2 in immature neurons leads to impaired network integration.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 245, doi. 10.1093/hmg/ddy338

By:

Sun, Yi;
Gao, Yu;
Tidei, Joseph J;
Shen, Minjie;
Hoang, Johnson T;
Wagner, Daniel F;
Zhao, Xinyu

Publication type:

Article

Dominant negative GPR161 rare variants are risk factors of human spina bifida.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 200, doi. 10.1093/hmg/ddy339

By:

Kim, Sung-Eun;
Lei, Yunping;
Hwang, Sun-Hee;
Wlodarczyk, Bogdan J;
Mukhopadhyay, Saikat;
Shaw, Gary M;
Ross, M Elizabeth;
Finnell, Richard H

Publication type:

Article

Mitochondrial division inhibitor 1 reduces dynamin-related protein 1 and mitochondrial fission activity.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 177, doi. 10.1093/hmg/ddy335

By:

Manczak, Maria;
Kandimalla, Ramesh;
Yin, Xiangling;
Reddy, P Hemachandra

Publication type:

Article

Genome-wide association study of cervical cancer suggests a role for ARRDC3 gene in human papillomavirus infection.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 341, doi. 10.1093/hmg/ddy390

By:

Takeuchi, Fumihiko;
Kukimoto, Iwao;
Li, Zhiqiang;
Li, Shuang;
Li, Ni;
Hu, Zhibin;
Takahashi, Atsushi;
Inoue, Shusaku;
Yokoi, Sana;
Chen, Jianhua;
Hang, Dong;
Kuroda, Makoto;
Matsuda, Fumihiko;
Mizuno, Mika;
Mori, Seiichiro;
Wu, Peng;
Tanaka, Naotake;
Matsuo, Keitaro;
Kamatani, Yoichiro;
Kubo, Michiaki

Publication type:

Article

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 290, doi. 10.1093/hmg/ddy351

By:

Nimmo, Graeme A M;
Venkatesh, Sundararajan;
Pandey, Ashutosh K;
Marshall, Christian R;
Hazrati, Lili-Naz;
Blaser, Susan;
Ahmed, Sohnee;
Cameron, Jessie;
Singh, Kamalendra;
Ray, Peter N;
Suzuki, Carolyn K;
Yoon, Grace

Publication type:

Article

Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 320, doi. 10.1093/hmg/ddy348

By:

Pakula, Anna;
Lek, Angela;
Widrick, Jeffrey;
Mitsuhashi, Hiroaki;
Gwilt, Katlynn M Bugda;
Gupta, Vandana A;
Rahimov, Fedik;
Criscione, June;
Zhang, Yuanfan;
Gibbs, Devin;
Murphy, Quinn;
Manglik, Anusha;
Mead, Lillian;
Kunkel, Louis

Publication type:

Article

Dusp6 is a genetic modifier of growth through enhanced ERK activity.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 279, doi. 10.1093/hmg/ddy349

By:

Vo, Andy H;
Swaggart, Kayleigh A;
Woo, Anna;
Gao, Quan Q;
Demonbreun, Alexis R;
Fallon, Katherine S;
Quattrocelli, Mattia;
Hadhazy, Michele;
Page, Patrick G T;
Chen, Zugen;
Eskin, Ascia;
Squire, Kevin;
Nelson, Stanley F;
McNally, Elizabeth M

Publication type:

Article

Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 332, doi. 10.1093/hmg/ddy347

By:

Fadista, João;
Skotte, Line;
Geller, Frank;
Bybjerg-Grauholm, Jonas;
Gørtz, Sanne;
Romitti, Paul A;
Caggana, Michele;
Kay, Denise M;
Matsson, Hans;
Boyd, Heather A;
Hougaard, David M;
Nordenskjöld, Agneta;
Mills, James L;
Melbye, Mads;
Feenstra, Bjarke

Publication type:

Article

A mouse model of Angelman syndrome imprinting defects.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 220, doi. 10.1093/hmg/ddy345

By:

Lewis, Michael W;
Vargas-Franco, Dorianmarie;
Morse, Deborah A;
Resnick, James L

Publication type:

Article

CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 349, doi. 10.1093/hmg/ddy340

By:

Huang, Xiaoping;
Wu, Beverly P;
Nguyen, Diana;
Liu, Yi-Ting;
Marani, Melika;
Hench, Jürgen;
Bénit, Paule;
Kozjak-Pavlovic, Vera;
Rustin, Pierre;
Frank, Stephan;
Narendra, Derek P

Publication type:

Article

The latitude-dependent autoimmune disease risk genes ZMIZ1 and IRF8 regulate mononuclear phagocytic cell differentiation in response to vitamin D.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 269, doi. 10.1093/hmg/ddy324

By:

Parnell, Grant P;
Schibeci, Stephen D;
Fewings, Nicole L;
Afrasiabi, Ali;
Law, Samantha P L;
Samaranayake, Shanuka;
Kh'ng, Jing Hui;
Fong, Yee Hsu;
Brown, David A;
Liddle, Christopher;
Stewart, Graeme J;
Booth, David R

Publication type:

Article

β-catenin ablation exacerbates polycystic kidney disease progression.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 230, doi. 10.1093/hmg/ddy309

By:

Conduit, Sarah E;
Hakim, Sandra;
Feeney, Sandra J;
Ooms, Lisa M;
Dyson, Jennifer M;
Abud, Helen E;
Mitchell, Christina A

Publication type:

Article

Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 209, doi. 10.1093/hmg/ddy299

By:

Kubota, Akatsuki;
Juanola-Falgarona, Martí;
Emmanuele, Valentina;
Sanchez-Quintero, Maria Jose;
Kariya, Shingo;
Sera, Fusako;
Homma, Shunichi;
Tanji, Kurenai;
Quinzii, Catarina M;
Hirano, Michio

Publication type:

Article

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 2, p. 258, doi. 10.1093/hmg/ddy294

By:

Sommerville, Ewen W;
Zhou, Xiao-Long;
Oláhová, Monika;
Jenkins, Janda;
Euro, Liliya;
Konovalova, Svetlana;
Hilander, Taru;
Pyle, Angela;
He, Langping;
Habeebu, Sultan;
Saunders, Carol;
Kelsey, Anna;
Morris, Andrew A M;
McFarland, Robert;
Suomalainen, Anu;
Gorman, Gráinne S;
Wang, En-Duo;
Thiffault, Isabelle;
Tyynismaa, Henna;
Taylor, Robert W

Publication type:

Article