Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 19

Results: 9

Correction to: The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.

Published in:: Human Molecular Genetics, 2024, v. 33, n. 19, p. 1727, doi. 10.1093/hmg/ddae126
Publication type:: Article

Correction to: Psychosocial adversity and socioeconomic position during childhood and epigenetic age: analysis of two prospective cohort studies.

Published in:: Human Molecular Genetics, 2024, v. 33, n. 19, p. 1726, doi. 10.1093/hmg/ddae118
Publication type:: Article

Plasma proteometabolome in lung cancer: exploring biomarkers through bidirectional Mendelian randomization and colocalization analysis.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1688, doi. 10.1093/hmg/ddae110

By:

Dong, Bo;
Wang, Mengyao;
Li, Kaixiu;
Li, Zuwei;
Liu, Lunxu;
Shen, Shensi

Publication type:

Article

Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human neurons.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1711, doi. 10.1093/hmg/ddae111

By:

Fugón, Orangel J Gutierrez;
Sharifi, Osman;
Heath, Nicholas;
Soto, Daniela C;
Gomez, J Antonio;
Yasui, Dag H;
Mendiola, Aron Judd P;
O'Geen, Henriette;
Beitnere, Ulrika;
Tomkova, Marketa;
Haghani, Viktoria;
Dillon, Greg;
Segal, David J;
LaSalle, Janine M

Publication type:

Article

Sequence-to-expression approach to identify etiological non-coding DNA variations in P53 and cMYC-driven diseases.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1697, doi. 10.1093/hmg/ddae109

By:

Kin, Katherine;
Bhogale, Shounak;
Zhu, Lisha;
Thomas, Derrick;
Bertol, Jessica;
Zheng, W Jim;
Sinha, Saurabh;
Fakhouri, Walid D

Publication type:

Article

Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2α phosphorylation via protein interactors and actin cytoskeleton.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1671, doi. 10.1093/hmg/ddae107

By:

Zhang, Yinhua;
Kang, Hyae Rim;
Jun, Yukyung;
Kang, Hyojin;
Bang, Geul;
Ma, Ruiying;
Ju, Sungjin;
Yoon, Da Eun;
Kim, Yoonhee;
Kim, Kyoungmi;
Kim, Jin Young;
Han, Kihoon

Publication type:

Article

Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1643, doi. 10.1093/hmg/ddae105

By:

Dai, Hongzheng;
Ketkar, Shamika;
Tan, Taotao;
Atkinson, Elizabeth G;
Burrage, Lindsay;
Worley, Kim C;
Christopher, Brian;
Lyons, Marka A;
Assassi, Shervin;
Mayes, Maureen D;
Lee, Brendan

Publication type:

Article

Joint models reveal genetic architecture of pubertal stage transitions and their association with BMI in admixed Chilean population.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1660, doi. 10.1093/hmg/ddae098

By:

Vicuña, Lucas;
Barrientos, Esteban;
Leiva-Yamaguchi, Valeria;
Alvares, Danilo;
Mericq, Veronica;
Pereira, Anita;
Eyheramendy, Susana

Publication type:

Article

A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1648, doi. 10.1093/hmg/ddae095

By:

Boehler, Nicholas A;
Seheult, Shane D I;
Wahid, Muhammad;
Hase, Kazuma;
D'Amico, Sierra F;
Saini, Shakshi;
Mascarenhas, Brittany;
Bergman, Matthew E;
Phillips, Michael A;
Faure, Paul A;
Cheng, Hai-Ying Mary

Publication type:

Article