Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 11

Results: 12

Genetic variants in TRPM7 associated with unexplained stillbirth modify ion channel function.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1797, doi. 10.1093/hmg/ddz198

By:

Cartwright, James H;
Aziz, Qadeer;
Harmer, Stephen C;
Thayyil, Sudhin;
Tinker, Andrew;
Munroe, Patricia B

Publication type:

Article

Loss of mitochondrial protein CHCHD10 in skeletal muscle causes neuromuscular junction impairment.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1784, doi. 10.1093/hmg/ddz154

By:

Xiao, Yatao;
Zhang, Jianmin;
Shu, Xiaoqiu;
Bai, Lei;
Xu, Wentao;
Wang, Ailian;
Chen, Aizhong;
Tu, Wen-Yo;
Wang, Jianwen;
Zhang, Kejing;
Luo, Benyan;
Shen, Chengyong

Publication type:

Article

Reduction of Tet2 exacerbates early stage Alzheimer's pathology and cognitive impairments in 2×Tg-AD mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1833, doi. 10.1093/hmg/ddz282

By:

Li, Liping;
Qiu, Yisha;
Miao, Miao;
Liu, Zhitao;
Li, Wanyi;
Zhu, Yiyi;
Wang, Qinwen

Publication type:

Article

Impact of sex hormone-binding globulin on the human phenome.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1824, doi. 10.1093/hmg/ddz269

By:

Arathimos, Ryan;
Millard, Louise A C;
Bell, Joshua A;
Relton, Caroline L;
Suderman, Matthew

Publication type:

Article

Single-nucleotide polymorphisms in Orai1 associated with atopic dermatitis inhibit protein turnover, decrease calcium entry and disrupt calcium-dependent gene expression.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1808, doi. 10.1093/hmg/ddz223

By:

Yeh, Yi-Chun;
Lin, Yu-Ping;
Kramer, Holger;
Parekh, Anant B

Publication type:

Article

Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1853, doi. 10.1093/hmg/ddz285

By:

Gravesteijn, Gido;
Dauwerse, Johannes G;
Overzier, Maurice;
Brouwer, Gwendolyn;
Hegeman, Ingrid;
Mulder, Aat A;
Baas, Frank;
Kruit, Mark C;
Terwindt, Gisela M;
Duinen, Sjoerd G van;
Jost, Carolina R;
Aartsma-Rus, Annemieke;
Oberstein, Saskia A J Lesnik;
Rutten, Julie W

Publication type:

Article

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1772, doi. 10.1093/hmg/ddz108

By:

Motta, Marialetizia;
Sagi-Dain, Lena;
Krumbach, Oliver H F;
Hahn, Andreas;
Peleg, Amir;
German, Alina;
Lissewski, Christina;
Coppola, Simona;
Pantaleoni, Francesca;
Kocherscheid, Luisa;
Altmüller, Franziska;
Schanze, Denny;
Logeswaran, Thushiha;
Chahrokh-Zadeh, Soheyla;
Munzig, Anna;
Nakhaei-Rad, Saeideh;
Cavé, Hélène;
Ahmadian, Mohammad R;
Tartaglia, Marco;
Zenker, Martin

Publication type:

Article

Analysis of putative cis-regulatory elements regulating blood pressure variation.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1922, doi. 10.1093/hmg/ddaa098

By:

Nandakumar, Priyanka;
Lee, Dongwon;
Hoffmann, Thomas J;
Ehret, Georg B;
Arking, Dan;
Ranatunga, Dilrini;
Li, Man;
Grove, Megan L;
Boerwinkle, Eric;
Schaefer, Catherine;
Kwok, Pui-Yan;
Iribarren, Carlos;
Risch, Neil;
Chakravarti, Aravinda

Publication type:

Article

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1900, doi. 10.1093/hmg/ddaa050

By:

Alharatani, Reham;
Ververi, Athina;
Beleza-Meireles, Ana;
Ji, Weizhen;
Mis, Emily;
Patterson, Quinten T;
Griffin, John N;
Bhujel, Nabina;
Chang, Caitlin A;
Dixit, Abhijit;
Konstantino, Monica;
Healy, Christopher;
Hannan, Sumayyah;
Neo, Natsuko;
Cash, Alex;
Li, Dong;
Bhoj, Elizabeth;
Zackai, Elaine H;
Cleaver, Ruth;
Baralle, Diana

Publication type:

Article

Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1757, doi. 10.1093/hmg/ddy430

By:

Consortium, The HD iPSC

Publication type:

Article

DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1864, doi. 10.1093/hmg/ddaa014

By:

Maresca, Alessandra;
Dotto, Valentina Del;
Capristo, Mariantonietta;
Scimonelli, Emanuela;
Tagliavini, Francesca;
Morandi, Luca;
Tropeano, Concetta Valentina;
Caporali, Leonardo;
Mohamed, Susan;
Roberti, Marina;
Scandiffio, Letizia;
Zaffagnini, Mirko;
Rossi, Jacopo;
Cappelletti, Martina;
Musiani, Francesco;
Contin, Manuela;
Riva, Roberto;
Liguori, Rocco;
Pizza, Fabio;
Morgia, Chiara La

Publication type:

Article

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1882, doi. 10.1093/hmg/ddaa004

By:

Toms, Maria;
Dubis, Adam M;
Vrieze, Erik de;
Tracey-White, Dhani;
Mitsios, Andreas;
Hayes, Matthew;
Broekman, Sanne;
Baxendale, Sarah;
Utoomprurkporn, Nattawan;
Bamiou, Doris;
Bitner-Glindzicz, Maria;
Webster, Andrew R;
Wijk, Erwin Van;
Moosajee, Mariya

Publication type:

Article