Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 20

Results: 11

Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3339, doi. 10.1093/hmg/ddz177

By:

Szabo, Eszter;
Wilk, Piotr;
Nagy, Balint;
Zambo, Zsofia;
Bui, David;
Weichsel, Andrzej;
Arjunan, Palaniappa;
Torocsik, Beata;
Hubert, Agnes;
Furey, William;
Montfort, William R;
Jordan, Frank;
Weiss, Manfred S;
Adam-Vizi, Vera;
Ambrus, Attila

Publication type:

Article

The repair of endo/exogenous DNA double-strand breaks and its effects on meiotic chromosome segregation in oocytes.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3422, doi. 10.1093/hmg/ddz156

By:

Ma, Jun-Yu;
Feng, Xie;
Tian, Xin-Yi;
Chen, Lei-Ning;
Fan, Xiao-Yan;
Guo, Lei;
Li, Sen;
Yin, Shen;
Luo, Shi-Ming;
Ou, Xiang-Hong

Publication type:

Article

Regulation of phagolysosomal activity by miR-204 critically influences structure and function of retinal pigment epithelium/retina.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3355, doi. 10.1093/hmg/ddz171

By:

Zhang, Congxiao;
Miyagishima, Kiyoharu J;
Dong, Lijin;
Rising, Aaron;
Nimmagadda, Malika;
Liang, Genqing;
Sharma, Ruchi;
Dejene, Roba;
Wang, Yuan;
Abu-Asab, Mones;
Qian, Haohua;
Li, Yichao;
Kopera, Megan;
Maminishkis, Arvydas;
Martinez, Jennifer;
Miller, Sheldon

Publication type:

Article

Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy<sup>2J</sup>/dy<sup>2J</sup> mouse model of Lama2-CMD.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3369, doi. 10.1093/hmg/ddz180

By:

Yanay, Nurit;
Elbaz, Moran;
Konikov-Rozenman, Jenya;
Elgavish, Sharona;
Nevo, Yuval;
Fellig, Yakov;
Rabie, Malcolm;
Mitrani-Rosenbaum, Stella;
Nevo, Yoram

Publication type:

Article

Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activity.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3486, doi. 10.1093/hmg/ddz119

By:

Yu, Yujiao;
Nakagawa, Tadashi;
Morohoshi, Akane;
Nakagawa, Makiko;
Ishida, Noriko;
Suzuki, Naoki;
Aoki, Masashi;
Nakayama, Keiko

Publication type:

Article

Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3406, doi. 10.1093/hmg/ddz184

By:

Peng, Yanyan;
Liou, Benjamin;
Inskeep, Venette;
Blackwood, Rachel;
Mayhew, Christopher N;
Grabowski, Gregory A;
Sun, Ying

Publication type:

Article

Hypoxic drive caused type 3 neovascularization in a preclinical model of exudative age-related macular degeneration.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3475, doi. 10.1093/hmg/ddz159

By:

Zhang, Lijuan;
Cui, Xuan;
Han, Yangjun;
Park, Karen Sophia;
Gao, Xiaohong;
Zhang, Ximei;
Yuan, Zhigang;
Hu, Yong;
Hsu, Chun-Wei;
Li, Xiaorong;
Bassuk, Alexander G;
Mahajan, Vinit B;
Wang, Nan-Kai;
Tsang, Stephen H

Publication type:

Article

Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3443, doi. 10.1093/hmg/ddz176

By:

Kopp, Nathan;
McCullough, Katherine;
Maloney, Susan E;
Dougherty, Joseph D

Publication type:

Article

Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3466, doi. 10.1093/hmg/ddz203

By:

Demetriou, Charalambos;
Chanudet, Estelle;
GOSgene;
Joseph, Agnel;
Topf, Maya;
Thomas, Anna C;
Bitner-Glindzicz, Maria;
Regan, Lesley;
Stanier, Philip;
Moore, Gudrun E

Publication type:

Article

Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3391, doi. 10.1093/hmg/ddz186

By:

Pagnamenta, Alistair T;
Heemeryck, Pierre;
Martin, Hilary C;
Bosc, Christophe;
Peris, Leticia;
Uszynski, Ivy;
Gory-Fauré, Sylvie;
Couly, Simon;
Deshpande, Charu;
Siddiqui, Ata;
Elmonairy, Alaa A;
Consortium, WGS500;
Consortium, Genomics England Research;
Jayawant, Sandeep;
Murthy, Sarada;
Walker, Ian;
Loong, Lucy;
Bauer, Peter;
Vossier, Frédérique;
Denarier, Eric

Publication type:

Article

Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 20, p. 3498, doi. 10.1093/hmg/ddz145

By:

Pouget, Jennie G;
Consortium, Schizophrenia Working Group of the Psychiatric Genomics;
Han, Buhm;
Wu, Yang;
Mignot, Emmanuel;
Ollila, Hanna M;
Barker, Jonathan;
Spain, Sarah;
Dand, Nick;
Trembath, Richard;
Martin, Javier;
Mayes, Maureen D;
Bossini-Castillo, Lara;
López-Isac, Elena;
Jin, Ying;
Santorico, Stephanie A;
Spritz, Richard A;
Hakonarson, Hakon;
Polychronakos, Constantin;
Raychaudhuri, Soumya

Publication type:

Article