Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 6

Results: 13

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 897, doi. 10.1093/hmg/ddac224

By:

Sabando, Ainara Ruiz de;
Lafuente, Edurne Urrutia;
Galbete, Arkaitz;
Ciosi, Marc;
Amigot, Fermín García;
Solaesa, Virginia García;
group, Spanish HD Collaborative;
Monckton, Darren G;
Ramos-Arroyo, Maria A

Publication type:

Article

The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 984, doi. 10.1093/hmg/ddac259

By:

Ma, Mengqi;
Zhang, Xi;
Zheng, Yiming;
Lu, Shenzhao;
Pan, Xueyang;
Mao, Xiao;
Pan, Hongling;
Chung, Hyung-lok;
Wang, Hua;
Guo, Hong;
Bellen, Hugo J

Publication type:

Article

Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 959, doi. 10.1093/hmg/ddac252

By:

Xu, Weiyi;
Graves, Andrea;
Weisz-Hubshman, Monika;
Hegazy, Lamees;
Magyar, Christina;
Liu, Zian;
Nasiotis, Eleni;
Samee, Md Abul Hassan;
Burris, Thomas;
Lalani, Seema;
Zhang, Lilei

Publication type:

Article

Whole-exome sequencing study identifies four novel gene loci associated with diabetic kidney disease.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 1048, doi. 10.1093/hmg/ddac290

By:

Pan, Yang;
Sun, Xiao;
Mi, Xuenan;
Huang, Zhijie;
Hsu, Yenchih;
Hixson, James E;
Munzy, Donna;
Metcalf, Ginger;
Franceschini, Nora;
Tin, Adrienne;
Köttgen, Anna;
Francis, Michael;
Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium TOPMed Kidney Function Working;
Brody, Jennifer A;
Kestenbaum, Bryan;
Sitlani, Colleen M;
Mychaleckyj, Josyf C;
Kramer, Holly;
Lange, Leslie A;
Guo, Xiuqing

Publication type:

Article

A gene regulatory network approach harmonizes genetic and epigenetic signals and reveals repurposable drug candidates for multiple sclerosis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 998, doi. 10.1093/hmg/ddac265

By:

Manuel, Astrid M;
Dai, Yulin;
Jia, Peilin;
Freeman, Leorah A;
Zhao, Zhongming

Publication type:

Article

Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 1010, doi. 10.1093/hmg/ddac264

By:

Heras, Jose I de las;
Todorow, Vanessa;
Krečinić-Balić, Lejla;
Hintze, Stefan;
Czapiewski, Rafal;
Webb, Shaun;
Schoser, Benedikt;
Meinke, Peter;
Schirmer, Eric C

Publication type:

Article

Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 1032, doi. 10.1093/hmg/ddac262

By:

Thomson, Ella;
Tran, Minh;
Robevska, Gorjana;
Ayers, Katie;
van der Bergen, Jocelyn;
Bhaskaran, Prarthna Gopalakrishnan;
Haan, Eric;
Cereghini, Silvia;
Vash-Margita, Alla;
Margetts, Miranda;
Hensley, Alison;
Nguyen, Quan;
Sinclair, Andrew;
Koopman, Peter;
Pelosi, Emanuele

Publication type:

Article

A splicing silencer in SMN2 intron 6 is critical in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 971, doi. 10.1093/hmg/ddac260

By:

Wang, Li;
Ji, Yinfeng;
Chen, Yuqing;
Bai, Jialin;
Gao, Peng;
Feng, Pengchao

Publication type:

Article

Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 907, doi. 10.1093/hmg/ddac243

By:

Thareja, Gaurav;
Belkadi, Aziz;
Arnold, Matthias;
Albagha, Omar M E;
Graumann, Johannes;
Schmidt, Frank;
Grallert, Harald;
Peters, Annette;
Gieger, Christian;
Consortium, The Qatar Genome Program Research;
Suhre, Karsten

Publication type:

Article

Protein kinase CK2 modulates the activity of Maf-family bZIP transcription factor NRL in rod photoreceptors of mammalian retina.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 948, doi. 10.1093/hmg/ddac256

By:

Liang, Xulong;
Yadav, Sharda P;
Batz, Zachary A;
Nellissery, Jacob;
Swaroop, Anand

Publication type:

Article

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 917, doi. 10.1093/hmg/ddac246

By:

Arribas-Carreira, Laura;
Dallabona, Cristina;
Swanson, Michael A;
Farris, Joseph;
Østergaard, Elsebet;
Tsiakas, Konstantinos;
Hempel, Maja;
Aquaviva-Bourdain, Cecile;
Koutsoukos, Stefanos;
Stence, Nicholas V;
Magistrati, Martina;
Spector, Elaine B;
Kronquist, Kathryn;
Christensen, Mette;
Karstensen, Helena G;
Feichtinger, René G;
Achleitner, Melanie T;
II, J Lawrence Merritt;
Pérez, Belén;
Ugarte, Magdalena

Publication type:

Article

miRNA analysis reveals novel dysregulated pathways in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 934, doi. 10.1093/hmg/ddac250

By:

Hur, Junguk;
Paez-Colasante, Ximena;
Figueroa-Romero, Claudia;
Lo, Ting-wen;
Barmada, Sami J;
Paulsen, Michelle T;
Ljungman, Mats;
Alakwaa, Fadhl M;
Savelieff, Masha G;
Goutman, Stephen A;
Feldman, Eva L

Publication type:

Article

Multi-omics analyses of cognitive traits and psychiatric disorders highlight brain-dependent mechanisms.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 6, p. 885, doi. 10.1093/hmg/ddab016

By:

Korologou-Linden, Roxanna;
Leyden, Genevieve M;
Relton, Caroline L;
Richmond, Rebecca C;
Richardson, Tom G

Publication type:

Article