Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 4

Results: 15

Correction to: Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 4, p. 708, doi. 10.1093/hmg/ddac310
Publication type:: Article

Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 621, doi. 10.1093/hmg/ddac231

By:

Morales, Fernando;
Corrales, Eyleen;
Vásquez, Melissa;
Zhang, Baili;
Fernández, Huberth;
Alvarado, Fernando;
Cortés, Sergio;
Santamaría-Ulloa, Carolina;
Initiative-MMDBDI, Marigold Myotonic Dystrophy Biomarkers Discovery;
Krahe, Ralf;
Monckton, Darren G

Publication type:

Article

Case–case genome-wide association analysis identifying genetic loci with divergent effects on Crohn's disease and ulcerative colitis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 677, doi. 10.1093/hmg/ddac241

By:

Jung, Seulgi;
Kim, Yongjae;
Park, Dohoon;
Lee, Yoonho;
Park, Sojung;
Baek, Jiwon;
Hwang, Sung Wook;
Park, Sang Hyoung;
Yang, Suk-Kyun;
Ye, Byong Duk;
Han, Buhm;
Song, Kyuyoung;
Lee, Ho-Su

Publication type:

Article

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 595, doi. 10.1093/hmg/ddac227

By:

Varela, Malena Daich;
Bellingham, James;
Motta, Fabiana;
Jurkute, Neringa;
Ellingford, Jamie M;
Quinodoz, Mathieu;
Oprych, Kathryn;
Niblock, Michael;
Janeschitz-Kriegl, Lucas;
Kaminska, Karolina;
Cancellieri, Francesca;
Scholl, Hendrik P N;
Lenassi, Eva;
Schiff, Elena;
Knight, Hannah;
Black, Graeme;
Rivolta, Carlo;
Cheetham, Michael E;
Michaelides, Michel;
Mahroo, Omar A

Publication type:

Article

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 580, doi. 10.1093/hmg/ddac225

By:

Ververi, Athina;
Zagaglia, Sara;
Menzies, Lara;
Baptista, Julia;
Caswell, Richard;
Baulac, Stephanie;
Ellard, Sian;
Lynch, Sally;
Consortium, Genomics England Research;
Jacques, Thomas S;
Chawla, Maninder Singh;
Heier, Martin;
Kulseth, Mari Ann;
Mero, Inger-Lise;
Våtevik, Anne Katrine;
Kraoua, Ichraf;
Rhouma, Hanene Ben;
Younes, Thouraya Ben;
Miladi, Zouhour;
Turki, Ilhem Ben Youssef

Publication type:

Article

Blood transcriptomic biomarkers of alcohol consumption and cardiovascular disease risk factors: the Framingham Heart Study.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 649, doi. 10.1093/hmg/ddac237

By:

Ma, Jiantao;
Huang, Allen;
Yan, Kaiyu;
Li, Yi;
Sun, Xianbang;
Joehanes, Roby;
Huan, Tianxiao;
Levy, Daniel;
Liu, Chunyu

Publication type:

Article

FGF20 and PGM2 variants are associated with childhood asthma in family-based whole-genome sequencing studies.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 696, doi. 10.1093/hmg/ddac258

By:

Hecker, Julian;
Chun, Sung;
Samiei, Ahmad;
Liu, Cuining;
Laurie, Cecelia;
Kachroo, Priyadarshini;
Lutz, Sharon M;
Lee, Sanghun;
Smith, Albert V;
Lasky-Su, Jessica;
Cho, Michael H;
Sharma, Sunita;
Quirós, Manuel Enrique Soto;
Avila, Lydiana;
Celedón, Juan C;
Raby, Benjamin;
Zhou, Xiaobo;
Silverman, Edwin K;
DeMeo, Dawn L;
Consortium, NHLBI Trans-Omics for Precision Medicine (TOPMed)

Publication type:

Article

Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 543, doi. 10.1093/hmg/ddac221

By:

Dunsche, Inga;
Raddatz, Ellen L;
Ismer, Haide;
Hedtfeld, Silke;
Tamm, Stephanie;
Moser, Saskia;
Kontsendorn, Julia;
Tümmler, Burkhard;
Janciauskiene, Sabina;
Dittrich, Anna-Maria;
Stanke, Frauke

Publication type:

Article

Site-specific decreases in DNA methylation in replicating cells following exposure to oxidative stress.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 632, doi. 10.1093/hmg/ddac232

By:

Seddon, Annika R;
Das, Andrew B;
Hampton, Mark B;
Stevens, Aaron J

Publication type:

Article

Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 659, doi. 10.1093/hmg/ddac236

By:

García-Cruz, César;
Aragón, Jorge;
Lourdel, Sophie;
Annan, Ahrmad;
Roger, Jérôme E;
Montanez, Cecilia;
Vaillend, Cyrille

Publication type:

Article

Combinatorial treatment with exercise and AICAR potentiates the rescue of myotonic dystrophy type 1 mouse muscles in a sex-specific manner.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 551, doi. 10.1093/hmg/ddac222

By:

Misquitta, Naomi S;
Ravel-Chapuis, Aymeric;
Jasmin, Bernard J

Publication type:

Article

Integration of transcriptome-wide association study with neuronal dysfunction assays provides functional genomics evidence for Parkinson's disease genes.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 685, doi. 10.1093/hmg/ddac230

By:

Li, Jiayang;
Amoh, Bismark Kojo;
McCormick, Emma;
Tarkunde, Akash;
Zhu, Katy Fan;
Perez, Alma;
Mair, Megan;
Moore, Justin;
Shulman, Joshua M;
Al-Ramahi, Ismael;
Botas, Juan

Publication type:

Article

Non-coding RNAs associated with Prader–Willi syndrome regulate transcription of neurodevelopmental genes in human induced pluripotent stem cells.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 608, doi. 10.1093/hmg/ddac228

By:

Sledziowska, Monika;
Winczura, Kinga;
Jones, Matt;
Almaghrabi, Ruba;
Mischo, Hannah;
Hebenstreit, Daniel;
Garcia, Paloma;
Grzechnik, Pawel

Publication type:

Article

Prdx5 regulates DNA damage response through autophagy-dependent Sirt2-p53 axis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 567, doi. 10.1093/hmg/ddac218

By:

Agborbesong, Ewud;
Zhou, Julie X;
Li, Linda X;
Harris, Peter C;
Calvet, James P;
Li, Xiaogang

Publication type:

Article

Exome sequencing and functional analyses revealed CETN1 variants leads to impaired cell division and male fertility.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 4, p. 533, doi. 10.1093/hmg/ddac216

By:

Sudhakar, Digumarthi V S;
Phanindranath, Regur;
Jaishankar, Shveta;
Ramani, Anand;
Kalamkar, Kaustubh P;
Kumar, Umesh;
Pawar, Asmita D;
Dada, Rima;
Singh, Rajender;
Gupta, Nalini J;
Deenadayal, Mamata;
Tolani, Aarti Deenadayal;
Sharma, Yogendra;
Anand, Anuranjan;
Gopalakrishnan, Jay;
Thangaraj, Kumarasamy

Publication type:

Article