Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 5

Results: 15

GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 790, doi. 10.1093/hmg/ddac238

By:

Marongiu, Michele;
Pérez-Mejías, Gonzalo;
Orrù, Valeria;
Steri, Maristella;
Sidore, Carlo;
Díaz-Quintana, Antonio;
Mulas, Antonella;
Busonero, Fabio;
Maschio, Andrea;
Walter, Klaudia;
Tardaguila, Manuel;
Akbari, Parsa;
Soranzo, Nicole;
Fiorillo, Edoardo;
Gorospe, Myriam;
Schlessinger, David;
Díaz-Moreno, Irene;
Cucca, Francesco;
Zoledziewska, Magdalena

Publication type:

Article

The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 773, doi. 10.1093/hmg/ddac233

By:

Smith, Laura J;
Bolsinger, Magdalena M;
Chau, Kai-Yin;
Gegg, Matthew E;
Schapira, Anthony H V

Publication type:

Article

Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 873, doi. 10.1093/hmg/ddac269

By:

Cordero, Roberto Y;
Cordero, Jennifer B;
Stiemke, Andrew B;
Datta, Lisa W;
Buyske, Steven;
Kugathasan, Subra;
McGovern, Dermot P B;
Brant, Steven R;
Simpson, Claire L

Publication type:

Article

Identifying an oligodendrocyte enhancer that regulates Olig2 expression.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 835, doi. 10.1093/hmg/ddac249

By:

Fan, Chuandong;
Kim, Dongkyeong;
An, Hongjoo;
Park, Yungki

Publication type:

Article

Correction to: Novel Drosophila model of myotonic dystrophy type 1: phenotypic characterization and genome-wide view of altered gene expression.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 5, p. 883, doi. 10.1093/hmg/ddad010
Publication type:: Article

Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca<sup>2+</sup> channelopathies.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 847, doi. 10.1093/hmg/ddac248

By:

Török, Ferenc;
Tezcan, Kamer;
Filippini, Ludovica;
Fernández-Quintero, Monica L;
Zanetti, Lucia;
Liedl, Klaus R;
Drexel, Raphaela S;
Striessnig, Jörg;
Ortner, Nadine J

Publication type:

Article

Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 732, doi. 10.1093/hmg/ddac226

By:

Colonna, Maxwell B;
Moss, Tonya;
Mokashi, Sneha;
Srikanth, Sujata;
Jones, Julie R;
Foley, Jackson R;
Skinner, Cindy;
Lichty, Angie;
Kocur, Anthony;
Wood, Tim;
Stewart, Tracy Murray;
Casero Jr., Robert A;
Flanagan-Steet, Heather;
Edison, Arthur S;
Lyons, Michael J;
Steet, Richard

Publication type:

Article

Supt16 haploinsufficiency causes neurodevelopment disorder by disrupting MAPK pathway in neural stem cells.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 860, doi. 10.1093/hmg/ddac240

By:

Wang, Junwen;
Zhu, Xintong;
Dai, Limeng;
Wang, Ziyi;
Guan, Xingying;
Tan, Xiaoyin;
Li, Jia;
Zhang, Mao;
Bai, Yun;
Guo, Hong

Publication type:

Article

A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 720, doi. 10.1093/hmg/ddac223

By:

Huang, Sida;
Ma, Lu;
Liu, Xuezhong;
He, Chufeng;
Li, Jiada;
Hu, Zhengmao;
Jiang, Lu;
Liu, Yalan;
Liu, Xianlin;
Feng, Yong;
Cai, Xinzhang

Publication type:

Article

Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 825, doi. 10.1093/hmg/ddac244

By:

Yanagida, Keisuke;
Masago, Kayo;
Yasuda, Daisuke;
Hamano, Fumie;
Kurikawa, Yoshitaka;
Shimizu, Takao;
Ishii, Satoshi

Publication type:

Article

Genetic tuning of β-carotene oxygenase-1 activity rescues cone photoreceptor function in STRA6-deficient mice.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 798, doi. 10.1093/hmg/ddac242

By:

Moon, Jean;
Ramkumar, Srinivasagan;
Lintig, Johannes von

Publication type:

Article

A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 764, doi. 10.1093/hmg/ddac229

By:

Li, Yuan;
Ning, Guozhu;
Kang, Baoling;
Zhu, Jinwen;
Wang, Xiao-Yang;
Wang, Qiang;
Cai, Tao

Publication type:

Article

Histidine supplementation can escalate or rescue HARS deficiency in a Charcot–Marie–Tooth disease model.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 810, doi. 10.1093/hmg/ddac239

By:

Qiu, Yi;
Kenana, Rosan;
Beharry, Aruun;
Wilhelm, Sarah D P;
Hsu, Sung Yuan;
Siu, Victoria M;
Duennwald, Martin;
Heinemann, Ilka U

Publication type:

Article

Nuclear envelope protein lamin B receptor protects the genome from chromosomal instability and tumorigenesis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 745, doi. 10.1093/hmg/ddac235

By:

Patil, Shalaka;
Deshpande, Shruti;
Sengupta, Kundan

Publication type:

Article

Socioeconomic changes predict genome-wide DNA methylation in childhood.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 5, p. 709, doi. 10.1093/hmg/ddac171

By:

Liu, Jiaxuan;
Cerutti, Janine;
Lussier, Alexandre A;
Zhu, Yiwen;
Smith, Brooke J;
Smith, Andrew D A C;
Dunn, Erin C

Publication type:

Article