Results 21 to 30 of about 769,507 (169)

Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells

Stem Cell Research, 2017
The homeodomain transcription factor Shox2 controls the development and function of the native cardiac pacemaker, the sinoatrial node (SAN). Moreover, SHOX2 mutations have been associated with cardiac arrhythmias in humans.
Sandra Hoffmann, Stefanie Schmitteckert, Anne Griesbeck, Hannes Preiss, Simon Sumer, Alexandra Rolletschek, Martin Granzow, Volker Eckstein, Beate Niesler, Gudrun A. Rappold   +9 more
doaj   +1 more source

Lipid and metabolic syndrome traits in coronary artery disease: a Mendelian randomization study

Journal of Lipid Research, 2021
Mendelian randomization (MR) of lipid traits in CAD has provided evidence for causal associations of LDL-C and TGs in CAD, but many lipid trait genetic variants have pleiotropic effects on other cardiovascular risk factors that may bias MR associations ...
David G. Thomas, Ying Wei, Alan R. Tall
doaj   +1 more source

Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys)

Frontiers in Pharmacology, 2022
Mutations in the genes encoding calcium/calmodulin dependent protein kinase II (CAMK2) isoforms cause a newly recognized neurodevelopmental disorder (ND), for which the full clinical spectrum has yet to be described.
Bonnie K. Dwyer, Danielle C. M. Veenma, Danielle C. M. Veenma, Kiki Chang, Howard Schulman, Howard Schulman, Geeske M. Van Woerden, Geeske M. Van Woerden, Geeske M. Van Woerden   +8 more
doaj   +1 more source

A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

eLife, 2020
Primary Ovarian Insufficiency (POI) is a major cause of infertility, but its etiology remains poorly understood. Using whole-exome sequencing in a family with three cases of POI, we identified the candidate missense variant S167L in HSF2BP, an essential ...
Natalia Felipe-Medina, Sandrine Caburet, Fernando Sánchez-Sáez, Yazmine B Condezo, Dirk G de Rooij, Laura Gómez-H, Rodrigo Garcia-Valiente, Anne Laure Todeschini, Paloma Duque, Manuel Adolfo Sánchez-Martin, Stavit A Shalev, Elena Llano, Reiner A Veitia, Alberto M Pendás   +13 more
doaj   +1 more source

A BAP1 synonymous mutation results in exon skipping, loss of function and worse patient prognosis

iScience, 2021
Summary: Synonymous mutations are generally disregarded by genomic analyses because they are considered non-pathogenic. We identified and characterized a somatic synonymous mutation in the epigenetic modifier and tumor suppressor BAP1, resulting in exon ...
Jennifer Niersch, Silvia Vega-Rubín-de-Celis, Anna Bazarna, Svenja Mergener, Verena Jendrossek, Jens T. Siveke, Samuel Peña-Llopis   +6 more
doaj   +1 more source

Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations

HGG Advances, 2023
Summary: Transcriptome prediction models built with data from European-descent individuals are less accurate when applied to different populations because of differences in linkage disequilibrium patterns and allele frequencies.
Daniel S. Araujo, Chris Nguyen, Xiaowei Hu, Anna V. Mikhaylova, Chris Gignoux, Kristin Ardlie, Kent D. Taylor, Peter Durda, Yongmei Liu, George Papanicolaou, Michael H. Cho, Stephen S. Rich, Jerome I. Rotter, Hae Kyung Im, Ani Manichaikul, Heather E. Wheeler   +15 more
doaj   +1 more source

Y chromosome damage underlies testicular abnormalities in ATR-X syndrome

iScience
Summary: ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome features genital and testicular abnormalities including atypical genitalia and small testes with few seminiferous tubules. Our mouse model recapitulated the testicular defects when
Nayla Y. León, Thanh Nha Uyen Le, Andrew Garvie, Lee H. Wong, Stefan Bagheri-Fam, Vincent R. Harley   +5 more
doaj   +1 more source

Genetic susceptibility, dietary cholesterol intake, and plasma cholesterol levels in a Chinese population

Journal of Lipid Research, 2020
Accompanied with nutrition transition, non-HDL-C levels of individuals in Asian countries has increased rapidly, which has caused the global epicenter of nonoptimal cholesterol to shift from Western countries to Asian countries.
Shaofeng Huo, Liang Sun, Geng Zong, Boyu Song, He Zheng, Qianlu Jin, Huaixing Li, Xu Lin   +7 more
doaj   +1 more source

Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs

eLife, 2023
Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are enriched in 'mutation intolerant' genes. We show how such observations can be interpreted in light of a model of mutation-selection balance and use the model to relate ...
Ipsita Agarwal, Zachary L Fuller, Simon R Myers, Molly Przeworski   +3 more
doaj   +1 more source

Tinea Imbricata among the Indigenous Communities: Current Global Epidemiology and Research Gaps Associated with Host Genetics and Skin Microbiota

Journal of Fungi, 2022
Tinea imbricata is a unique fungal skin disease that mostly affects indigenous populations in Southeast Asia, Oceania, and Central and South America. The control and management of this disease among these communities are challenging given their remote ...
Yi Xian Er, Soo Ching Lee, Leslie Thian-Lung Than, Azdayanti Muslim, Kin Fon Leong, Zhenli Kwan, Izandis Mohd Sayed, Yvonne Ai-Lian Lim   +7 more
doaj   +1 more source