Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 16

Results: 28

Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2788, doi. 10.1093/hmg/ddaa184

By:

Wright, Galen E. B.;
Caron, Nicholas S.;
Ng, Bernard;
Casal, Lorenzo;
Casazza, William;
Xiaohong Xu;
Ooi, Jolene;
Pouladi, Mahmoud A.;
Mostafavi, Sara;
Ross, Colin J. D.;
Hayden, Michael R.

Publication type:

Article

Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2729, doi. 10.1093/hmg/ddaa163

By:

Ferre-Fernández, Jesús-José;
Sorokina, Elena A.;
Thompson, Samuel;
Collery, Ross F.;
Nordquist, Emily;
Lincoln, Joy;
Semina, Elena V.

Publication type:

Article

Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2746, doi. 10.1093/hmg/ddaa164

By:

Banerji, Christopher R. S.;
Henderson, Don;
Tawil, Rabi N.;
Zammit, Peter S.

Publication type:

Article

Motor neuron translatome reveals deregulation of SYNGR4 and PLEKHB1 in mutant TDP-43 amyotrophic lateral sclerosis models.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2647, doi. 10.1093/hmg/ddaa140

By:

Marques, Rita F.;
Engler, Jan B.;
Küchler, Katrin;
Jones, Ross A.;
Lingner, Thomas;
Salinas, Gabriela;
Gillingwater, Thomas H.;
Friese, Manuel A.;
Duncan, Kent E.

Publication type:

Article

Chronic lymphocytic leukemia (CLL) risk is mediated by multiple enhancer variants within CLL risk loci.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2761, doi. 10.1093/hmg/ddaa165

By:

Huihuang Yan;
Shulan Tian;
Kleinstern, Geffen;
Zhiquan Wang;
Jeong-Heon Lee;
Boddicker, Nicholas J.;
Cerhan, James R.;
Kay, Neil E.;
Braggio, Esteban;
Slager, Susan L.

Publication type:

Article

Metabolic stress regulates genome-wide transcription in a PTEN-dependent manner.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2736, doi. 10.1093/hmg/ddaa168

By:

Abbas, Ata;
Padmanabhan, Roshan;
Eng, Charis

Publication type:

Article

Fto-modulated lipid niche regulates adult neurogenesis through modulating adenosine metabolism.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2775, doi. 10.1093/hmg/ddaa171

By:

Hui Gao;
Xuejun Cheng;
Junchen Chen;
Chai Ji;
Hongfeng Guo;
Wenzheng Qu;
Xiaoxue Dong;
Yingyan Chen;
Linghan Ma;
Qiang Shu;
Xuekun Li

Publication type:

Article

Rare deleterious BUB1B variants induce premature ovarian insufficiency and early menopause.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2698, doi. 10.1093/hmg/ddaa153

By:

Qing Chen;
Hanni Ke;
Xuezhen Luo;
Lingbo Wang;
Yanhua Wu;
Shuyan Tang;
Jinsong Li;
Li Jin;
Feng Zhang;
Yingying Qin;
Xiaojun Chen

Publication type:

Article

ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2708, doi. 10.1093/hmg/ddaa160

By:

Strayve, Daniel;
Makia, Mustafa S.;
Kakakhel, Mashal;
Sakthivel, Haarthi;
Conley, Shannon M.;
Al-Ubaidi, Muayyad R.;
Naash, Muna I.

Publication type:

Article

Lysine acetylation regulates the RNA binding, subcellular localization and inclusion formation of FUS.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2684, doi. 10.1093/hmg/ddaa159

By:

Arenas, Alexandra;
Jing Chen;
Lisha Kuang;
Barnett, Kelly R.;
Kasarskis, Edward J.;
Gal, Jozsef;
Haining Zhu

Publication type:

Article

Fine-scale population structure in the UK Biobank: implications for genome-wide association studies.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2803, doi. 10.1093/hmg/ddaa157

By:

Cook, James P.;
Mahajan, Anubha;
Morris, Andrew P.

Publication type:

Article

Retrovirus reactivation in CHMP2B<sup>Intron5</sup> models of frontotemporal dementia.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2637, doi. 10.1093/hmg/ddaa142

By:

Fort-Azna, Laura;
Ugbode, Chris;
Sweeney, Sean T.

Publication type:

Article

Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2674, doi. 10.1093/hmg/ddaa146

By:

Motyl, Anna A. L.;
Faller, Kiterie M. E.;
Groen, Ewout J. N.;
Kline, Rachel A.;
Eaton, Samantha L.;
Ledahawsky, Leire M.;
Chaytow, Helena;
Lamont, Douglas J.;
Wishart, Thomas M.;
Yu-Ting Huang;
Gillingwater, Thomas H.

Publication type:

Article

Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. 2662, doi. 10.1093/hmg/ddaa145

By:

Hensel, Niko;
Brickwedde, Hermann;
Tsaknakis, Konstantinos;
Grages, Antonia;
Braunschweig, Lena;
Lüders, Katja A.;
Lorenz, Heiko M.;
Lippross, Sebastian;
Walter, Lisa M.;
Tavassol, Frank;
Lienenklaus, Stefan;
Neunaber, Claudia;
Claus, Peter;
Hell, Anna K.

Publication type:

Article

Implicit bias of encoded variables: frameworks for addressing structured bias in EHR–GWAS data.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R33, doi. 10.1093/hmg/ddaa192

By:

Dueñas, Hillary R;
Seah, Carina;
Johnson, Jessica S;
Huckins, Laura M

Publication type:

Article

The phenomenal epigenome in neurodevelopmental disorders.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R42, doi. 10.1093/hmg/ddaa175

By:

Ciptasari, Ummi;
Bokhoven, Hans van

Publication type:

Article

Regulation, diversity and function of MECP2 exon and 3′UTR isoforms.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R89, doi. 10.1093/hmg/ddaa154

By:

Rodrigues, Deivid Carvalho;
Mufteev, Marat;
Ellis, James

Publication type:

Article

Genetics of early growth traits.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R66, doi. 10.1093/hmg/ddaa149

By:

Cousminer, Diana L;
Freathy, Rachel M

Publication type:

Article

Fine-mapping genetic associations.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R81, doi. 10.1093/hmg/ddaa148

By:

Hutchinson, Anna;
Asimit, Jennifer;
Wallace, Chris

Publication type:

Article

Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R27, doi. 10.1093/hmg/ddaa144

By:

Sadikovic, Bekim;
Levy, Michael A;
Aref-Eshghi, Erfan

Publication type:

Article

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R107, doi. 10.1093/hmg/ddaa133

By:

Prasasya, Rexxi;
Grotheer, Kristen V;
Siracusa, Linda D;
Bartolomei, Marisa S

Publication type:

Article

Understanding human gut diseases at single-cell resolution.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R51, doi. 10.1093/hmg/ddaa130

By:

Bigaeva, Emilia;
Venema, Werna T C Uniken;
Weersma, Rinse K;
Festen, Eleonora A M

Publication type:

Article

Genomics at cellular resolution: insights into cognitive disorders and their evolution.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R1, doi. 10.1093/hmg/ddaa117

By:

Berto, Stefano;
Liu, Yuxiang;
Konopka, Genevieve

Publication type:

Article

Reviewing the genetics of heterogeneity in depression: operationalizations, manifestations and etiologies.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R10, doi. 10.1093/hmg/ddaa115

By:

Cai, Na;
Choi, Karmel W;
Fried, Eiko I

Publication type:

Article

Dissecting genome-wide studies for microbiome-related metabolic diseases.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R73, doi. 10.1093/hmg/ddaa105

By:

Awany, Denis;
Allali, Imane;
Chimusa, Emile R

Publication type:

Article

Functional genomics in autoimmune diseases.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R59, doi. 10.1093/hmg/ddaa097

By:

Ding, James;
Frantzeskos, Antonios;
Orozco, Gisela

Publication type:

Article

Androgen receptor variants: RNA-based mechanisms and therapeutic targets.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R19, doi. 10.1093/hmg/ddaa089

By:

Tietz, Kiel T;
Dehm, Scott M

Publication type:

Article

Genome editing strategies for fetal hemoglobin induction in beta-hemoglobinopathies.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 16, p. R100, doi. 10.1093/hmg/ddaa088

By:

Demirci, Selami;
Leonard, Alexis;
Tisdale, John F

Publication type:

Article