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Article Abstract
The journal retracts the article "Pathogenic Variants Associated with Rare Monogenic Diseases Established in Ancient Neanderthal and Denisovan Genome-Wide Data" [...].
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| http://dx.doi.org/10.3390/genes16091026 | DOI Listing |
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12416861 | PMC |
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CRISPR/Cas9-mediated editing of COQ4 in induced pluripotent stem cells: A model for investigating COQ4-associated human coenzyme Q deficiency.
Stem Cell Res
September 2025
Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf 40225, Germany. Electronic address:
Pathogenic variants in the gene COQ4 cause primary coenzyme Q deficiency, which is associated with symptoms ranging from early epileptic encephalopathy up to adult-onset ataxia-spasticity spectrum disease. We genetically modified commercially available wild-type iPS cells by using a CRISPR/Cas9 approach to create heterozygous and homozygous isogenic cell lines carrying the disease-causing COQ4 variants c.458C > T, p.
View Article and Find Full Text PDFMorning Larks and Night Owls: Considering Chronotype in Evaluation of Patients with Pulmonary Hypertension.
Ann Am Thorac Soc
September 2025
University of Florida, Department of Medicine, Gainesville, Florida, United States;
Background: Pulmonary hypertension (PH) is a systemic illness with increasingly subtle disease manifestations including sleep disruption. Patients with PH are at increased risk for disturbances in circadian biology, although to date there is no data on "morningness" or "eveningness" in pulmonary vascular disease.
Research Questions: Our group studied circadian rhythms in PH patients based upon chronotype analysis, to explore whether there is a link between circadian parameters and physiologic risk-stratifying factors to inform novel treatment strategies in patients with PH?
Study Design And Methods: We serially recruited participants from July 2022 to March 2024, administering in clinic the Munich Chronotype Questionnaire (MCTQ).
Anatomical Risk Factors for Portal Vein Complications Following Right Hepatectomy in Living Donors.
Ann Surg
September 2025
Division of Hepatobiliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Objective: To determine the incidence, clinical outcomes, and anatomical risk factors of portal vein (PV)-related complications after right lobe donor hepatectomy (RLDH).
Summary Background Data: With the increase in living donor liver transplantation, large-scale studies on donor morbidity have been conducted to ensure donor safety. However, reports evaluating PV-related complications following right hepatectomy in living donors are lacking.
acmgscaler: An R package and Colab for standardised gene-level variant effect score calibration within the ACMG/AMP framework.
Bioinformatics
September 2025
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh United Kingdom.
Motivation: A genome-wide variant effect calibration method was recently developed under the guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP), following ClinGen recommendations for variant classification. While genome-wide approaches offer clinical utility, emerging evidence highlights the need for gene- and context-specific calibration to improve accuracy. Building on previous work, we have developed an algorithm tailored to converting functional scores from both multiplexed assays of variant effects (MAVEs) and computational variant effect predictors (VEPs) into ACMG/AMP evidence strengths.
View Article and Find Full Text PDFTransthyretin Cardiac Amyloidosis in Older Black and Hispanic Individuals With Heart Failure.
JAMA Cardiol
September 2025
Seymour, Paul and Gloria Milstein Division of Cardiology, Department of Medicine, Columbia University Irving Medical Center and New York-Presbyterian Hospital, New York, New York.
Importance: Transthyretin cardiac amyloidosis (ATTR-CA) is an underdiagnosed but treatable cause of heart failure (HF) in older individuals that occurs in the context of normal wild-type (ATTRwt-CA) or an abnormal inherited (ATTRv-CA) TTR gene variant. While the most common inherited TTR variant, V142I, occurs in 3% to 4% of self-identified Black Americans and is associated with excess morbidity and mortality, the prevalence of ATTR-CA in this at-risk population is unknown.
Objective: To define the prevalence of ATTR-CA and proportions attributable to ATTRwt-CA or ATTRv-CA among older Black and Caribbean Hispanic individuals with HF.