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Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study.
BMJ Open
January 2025
Research Centre of Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean (CIUSSS-SLSJ), Saguenay, Quebec, Canada
Introduction: MODY2 (maturity-onset diabetes of the young type 2, MIM125851) is a monogenic diabetes with an autosomal dominant transmission caused by a variant of the gene. MODY2 is often confused with type 1 or type 2 diabetes, but despite a slightly elevated blood glucose level, it does not induce long-term vascular complications, nor does it require pharmacological treatment. Genetic testing for the diagnosis of MODY2 is currently reserved for genetic specialists and some physicians.
View Article and Find Full Text PDFA Y chromosome-linked genome editor for efficient population suppression in the malaria vector Anopheles gambiae.
Nat Commun
January 2025
Department of Life Sciences, Imperial College London, London, UK.
Genetic control - the deliberate introduction of genetic traits to control a pest or vector population - offers a powerful tool to augment conventional mosquito control tools that have been successful in reducing malaria burden but that are compromised by a range of operational challenges. Self-sustaining genetic control strategies have shown great potential in laboratory settings, but hesitancy due to their invasive and persistent nature may delay their implementation. Here, instead, we describe a self-limiting strategy, designed to have geographically and temporally restricted effect, based on a Y chromosome-linked genome editor (YLE).
View Article and Find Full Text PDFAutosomally dominantly inherited isolated gonadotropin deficiency via maternal assisted reproduction due to SOX10 mutation.
J Pediatr Endocrinol Metab
December 2024
Department of Pediatrics, Division of Endocrinology and Diabetes/The Ohio State University/Nationwide Children's Hospital, Columbus, OH, USA.
Background: Kallmann syndrome (KS) is a rare genetic disorder marked by hypogonadotropic hypogonadism and either anosmia or hyposmia. It exhibits genetic heterogeneity, with mutations identified in only 30 % of cases, involving various genes such as KAL1, FGFR1, FGF8, CHD7, and SOX10. Here, we present a case of gonadotropin deficiency associated with KS, observed in both a mother and her daughter, the latter conceived through assisted reproductive technology using the mother's ovum.
View Article and Find Full Text PDFPrime Editor Gene Therapy and TREX1 Mosaicism in Retinal Vasculopathy with Cerebral Leukoencephalopathy.
J Clin Immunol
December 2024
Division of Rheumatology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
TREX1 mutations underlie a variety of human diseases, including retinal vasculopathy with cerebral leukoencephalopathy (RVCL or RVCL-S), a catastrophic adult-onset vasculopathy that is often confused with multiple sclerosis, systemic vasculitis, or systemic lupus erythematosus. Patients with RVCL develop brain, retinal, liver, and kidney disease around age 35-55, leading to premature death in 100% of patients expressing an autosomal dominant C-terminally truncated form of TREX1. We previously demonstrated that RVCL is characterized by high levels of DNA damage, premature cellular senescence, and risk of early-onset breast cancer before age 45.
View Article and Find Full Text PDFGenetics of Nonsyndromic Microtia and Congenital Aural Atresia: A Scoping Review.
Otolaryngol Head Neck Surg
December 2024
Department of Otolaryngology-Head and Neck Surgery, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Objective: To review the literature on genetics of nonsyndromic microtia and congenital aural atresia (CAA).
Data Sources: Embase, Ovid (Medline), and Web of Science.
Review Methods: The search was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines for scoping reviews.
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