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

Results: 13

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
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
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
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
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
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
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
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
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
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
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