Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 14

Results: 14

Renal pathology in a mouse model of severe Spinal Muscular Atrophy is associated with downregulation of Glial Cell-Line Derived Neurotrophic Factor (GDNF).

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2365, doi. 10.1093/hmg/ddaa126

By:

Allardyce, Hazel;
Kuhn, Daniela;
Hernandez-Gerez, Elena;
Hensel, Niko;
Huang, Yu-Ting;
Faller, Kiterie;
Gillingwater, Thomas H;
Quondamatteo, Fabio;
Claus, Peter;
Parson, Simon H

Publication type:

Article

PICALM rescues glutamatergic neurotransmission, behavioural function and survival in a Drosophila model of Aβ42 toxicity.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2420, doi. 10.1093/hmg/ddaa125

By:

Yu, Yifan;
Niccoli, Teresa;
Ren, Ziyu;
Woodling, Nathaniel S;
Aleyakpo, Benjamin;
Szabadkai, Gyorgy;
Partridge, Linda

Publication type:

Article

Limited time window for retinal gene therapy in a preclinical model of ciliopathy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2337, doi. 10.1093/hmg/ddaa124

By:

Datta, Poppy;
Ruffcorn, Avri;
Seo, Seongjin

Publication type:

Article

Corrigendum to: PAX7 target gene repression associates with FSHD progression and pathology over one year.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2460, doi. 10.1093/hmg/ddaa110

By:

Banerji, Christopher R S

Publication type:

Article

Synj1 haploinsufficiency causes dopamine neuron vulnerability and alpha-synuclein accumulation in mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2300, doi. 10.1093/hmg/ddaa080

By:

Pan, Ping-Yue;
Sheehan, Patricia;
Wang, Qian;
Zhu, Xinyu;
Zhang, Yuanxi;
Choi, Insup;
Li, Xianting;
Saenz, Jacqueline;
Zhu, Justin;
Wang, Jing;
Gaamouch, Farida El;
Zhu, Li;
Cai, Dongming;
Yue, Zhenyu

Publication type:

Article

DUX4 expressing immortalized FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2285, doi. 10.1093/hmg/ddaa053

By:

Banerji, Christopher R S;
Panamarova, Maryna;
Zammit, Peter S

Publication type:

Article

Dopaminergic loss of cyclin-dependent kinase-like 5 recapitulates methylphenidate-remediable hyperlocomotion in mouse model of CDKL5 deficiency disorder.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2408, doi. 10.1093/hmg/ddaa122

By:

Jhang, Cian-Ling;
Lee, Hom-Yi;
Chen, Jin-Chung;
Liao, Wenlin

Publication type:

Article

Ornithine decarboxylase, the rate-limiting enzyme of polyamine synthesis, modifies brain pathology in a mouse model of tuberous sclerosis complex.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2395, doi. 10.1093/hmg/ddaa121

By:

Kapfhamer, David;
McKenna, James;
Yoon, Caroline J;
Murray-Stewart, Tracy;
Casero, Robert A;
Gambello, Michael J

Publication type:

Article

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2435, doi. 10.1093/hmg/ddaa120

By:

Davis, Erica E;
Balasubramanian, Ravikumar;
Kupchinsky, Zachary A;
Keefe, David L;
Plummer, Lacey;
Khan, Kamal;
Meczekalski, Blazej;
Heath, Karen E;
Lopez-Gonzalez, Vanesa;
Ballesta-Martinez, Mary J;
Margabanthu, Gomathi;
Price, Susan;
Greening, James;
Brauner, Raja;
Valenzuela, Irene;
Cusco, Ivon;
Fernandez-Alvarez, Paula;
Wierman, Margaret E;
Li, Taibo;
Lage, Kasper

Publication type:

Article

Accelerated loss of hypoxia response in zebrafish with familial Alzheimer's disease-like mutation of presenilin 1.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2379, doi. 10.1093/hmg/ddaa119

By:

Newman, Morgan;
Nik, Hani Moussavi;
Sutherland, Greg T;
Hin, Nhi;
Kim, Woojin S;
Halliday, Glenda M;
Jayadev, Suman;
Smith, Carole;
Laird, Angela S;
Lucas, Caitlin W;
Kittipassorn, Thaksaon;
Peet, Dan J;
Lardelli, Michael

Publication type:

Article

Germline PTEN mutations are associated with a skewed peripheral immune repertoire in humans and mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2353, doi. 10.1093/hmg/ddaa118

By:

Jaini, Ritika;
Loya, Matthew G;
King, Alexander T;
Thacker, Stetson;
Sarn, Nicholas B;
Yu, Qi;
Stark, George R;
Eng, Charis

Publication type:

Article

Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2325, doi. 10.1093/hmg/ddaa116

By:

Webster, Richard G;
Vanhaesebrouck, An E;
Maxwell, Susan E;
Cossins, Judith A;
Liu, Weiwei;
Ueta, Ryo;
Yamanashi, Yuji;
Beeson, David M W

Publication type:

Article

Effect of rare coding variants in the CFI gene on Factor I expression levels.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2313, doi. 10.1093/hmg/ddaa114

By:

Jong, Sarah de;
Volokhina, Elena B;
Breuk, Anita de;
Nilsson, Sara C;
Jong, Eiko K de;
Kar, Nicole C A J van der;
Bakker, Bjorn;
Hoyng, Carel B;
Heuvel, Lambert P van den;
Blom, Anna M;
Hollander, Anneke I den

Publication type:

Article

Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 14, p. 2451, doi. 10.1093/hmg/ddaa101

By:

Chen, Shitao;
Wang, Guishuan;
Zheng, Xiaoguo;
Ge, Shunna;
Dai, Yubing;
Ping, Ping;
Chen, Xiangfeng;
Liu, Guihua;
Zhang, Jing;
Yang, Yang;
Zhang, Xinzong;
Zhong, An;
Zhu, Yongtong;
Chu, Qingjun;
Huang, Yonghan;
Zhang, Yong;
Shen, Changli;
Yuan, Yiming;
Yuan, Qilong;
Pei, Xiuying

Publication type:

Article