Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 20

Results: 12

Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3539, doi. 10.1093/hmg/ddac134

By:

Li, Yanjie;
Li, Jixue;
Wang, Jun;
Zhang, Siyuan;
Giles, Keith;
Prakash, Thazha P;
Rigo, Frank;
Napierala, Jill S;
Napierala, Marek

Publication type:

Article

Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial dysautonomia patient-derived cells and healthy adults: a possible therapy for FD.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3521, doi. 10.1093/hmg/ddac133

By:

Anderson, Sylvia L;
Fasih-Ahmad, Faaria;
Evans, Anthony J;
Rubin, Berish Y

Publication type:

Article

Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3478, doi. 10.1093/hmg/ddac128

By:

Sladen, Paul E;
Jovanovic, Katarina;
Guarascio, Rosellina;
Ottaviani, Daniele;
Salsbury, Grace;
Novoselova, Tatiana;
Chapple, J Paul;
Yu-Wai-Man, Patrick;
Cheetham, Michael E

Publication type:

Article

Loss of BAF (mSWI/SNF) chromatin-remodeling ATPase Brg1 causes multiple malformations of cortical development in mice.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3504, doi. 10.1093/hmg/ddac127

By:

Jin, Yecheng;
Gao, Xiaotong;
Lu, Miaoqing;
Chen, Ge;
Yang, Xiaofan;
Ren, Naixia;
Song, Yuning;
Hou, Congzhe;
Li, Jiangxia;
Liu, Qiji;
Gao, Jiangang

Publication type:

Article

Chromenone derivatives as novel pharmacological chaperones for retinitis pigmentosa-linked rod opsin mutants.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3439, doi. 10.1093/hmg/ddac125

By:

Ortega, Joseph T;
McKee, Andrew G;
Roushar, Francis J;
Penn, Wesley D;
Schlebach, Jonathan P;
Jastrzebska, Beata

Publication type:

Article

Rare germline deleterious variants increase susceptibility for lung cancer.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3558, doi. 10.1093/hmg/ddac123

By:

Sang, Jian;
Zhang, Tongwu;
Kim, Jung;
Li, Mengying;
Pesatori, Angela C;
Consonni, Dario;
Song, Lei;
Liu, Jia;
Zhao, Wei;
Hoang, Phuc H;
Campbell, Dave S;
Feng, James;
D'Arcy, Monica E;
Synnott, Naoise;
Chen, Yingxi;
Wu, Zeni;
Zhu, Bin;
Yang, Xiaohong R;
Brown, Kevin M;
Choi, Jiyeon

Publication type:

Article

Altered hydroxymethylome in the substantia nigra of Parkinson's disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3494, doi. 10.1093/hmg/ddac122

By:

Min, Shishi;
Xu, Qian;
Qin, Lixia;
Li, Yujing;
Li, Ziyi;
Chen, Chao;
Wu, Hao;
Han, Junhai;
Zhu, Xiongwei;
Jin, Peng;
Tang, Beisha

Publication type:

Article

Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3405, doi. 10.1093/hmg/ddac119

By:

Zapata, Gerardo;
Yan, Keqin;
Picketts, David J

Publication type:

Article

Gene expression profiles in sporadic ALS fibroblasts define disease subtypes and the metabolic effects of the investigational drug EH301.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3458, doi. 10.1093/hmg/ddac118

By:

Fels, Jasmine A;
Casalena, Gabriella;
Konrad, Csaba;
Holmes, Holly E;
Dellinger, Ryan W;
Manfredi, Giovanni

Publication type:

Article

Loss of neurexin-1 in Drosophila melanogaster results in altered energy metabolism and increased seizure susceptibility.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3422, doi. 10.1093/hmg/ddac115

By:

Levy, Kyra A;
Weisz, Eliana D;
Jongens, Thomas A

Publication type:

Article

randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3393, doi. 10.1093/hmg/ddac111

By:

Srivastava, Siddharth;
Jo, Booil;
Zhang, Bo;
Frazier, Thomas;
Gallagher, Anne Snow;
Peck, Fleming;
Levin, April R;
Mondal, Sangeeta;
Li, Zetan;
Filip-Dhima, Rajna;
Geisel, Gregory;
Dies, Kira A;
Diplock, Amelia;
Eng, Charis;
Hanna, Rabi;
Sahin, Mustafa;
Hardan, Antonio;
Consortium, the Developmental Synaptopathies

Publication type:

Article

Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 20, p. 3566, doi. 10.1093/hmg/ddac051

By:

Portilla-Fernandez, Eliana;
Klarin, Derek;
Hwang, Shih-Jen;
Biggs, Mary L;
Bis, Joshua C;
Weiss, Stefan;
Rospleszcz, Susanne;
Natarajan, Pradeep;
Hoffmann, Udo;
Rogers, Ian S;
Truong, Quynh A;
Völker, Uwe;
Dörr, Marcus;
Bülow, Robin;
Criqui, Michael H;
Allison, Matthew;
Ganesh, Santhi K;
Yao, Jie;
Waldenberger, Melanie;
Bamberg, Fabian

Publication type:

Article