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Gene therapy in hemophilia: the dawn of a new era.
Res Pract Thromb Haemost
January 2025
Dipartimento di Fisiopatologia Medico-chirurgica e dei Trapianti, Università degli Studi di Milano, Milano, Italia.
Hemophilia A and B are hereditary bleeding disorders associated with the X chromosome, stemming from genetic defects in the coding of coagulation factor (F)VIII or FIX protein, leading to partial or complete deficiency. In the absence of effective prophylaxis, these deficiencies can result in irreversible joint damage, known as hemophilic arthropathy, and subsequent disability. Despite advancements in hemophilia treatment, individuals with severe forms of the disease continue to face a high risk of bleeding, particularly in instances of trauma or major surgical procedures.
View Article and Find Full Text PDFEffective Newborn Screening for Type 1 and 3 Primary Hyperoxaluria.
Kidney Int Rep
January 2025
Division of Pediatric Nephrology, Rosenheim Hospital, Germany.
Introduction: Newborn screening (NBS) programs for a defined set of eligible diseases have been enormously successful, but genomic NBS allowing for detection of additional treatable disorders has not been broadly implemented. All 3 types of primary hyperoxaluria (PH1-3) are rare autosomal recessive diseases caused by distinct defects of glyoxylate metabolism that are diagnosed genetically with certainty. Early diagnosis and treatment are mandatory to avoid renal failure or sequalae associated with persistent hyperoxaluria.
View Article and Find Full Text PDFNanoengineered mitochondria enable ocular mitochondrial disease therapy the replacement of dysfunctional mitochondria.
Acta Pharm Sin B
December 2024
State Key Laboratory of Natural Medicines, China Pharmaceutical University, Nanjing 210009, China.
Leber's hereditary optic neuropathy (LHON) is an ocular mitochondrial disease that involves the impairment of mitochondrial complex I, which is an important contributor to blindness among young adults across the globe. However, the disorder has no available cures, since the approved drug idebenone for LHON in Europe relies on bypassing complex I defects rather than fixing them. Herein, mRNA-loaded nanoparticle (mNP)-engineered mitochondria (mNP-Mito) were designed to replace dysfunctional mitochondria with the delivery of exogenous mitochondria, normalizing the function of complex I for treating LHON.
View Article and Find Full Text PDFThe genetics of non-syndromic dentinogenesis imperfecta: a systematic review.
Eur Arch Paediatr Dent
January 2025
Dental School, The University of Western Australia, 17 Monash Avenue, Nedlands, WA, 6009, Australia.
Purpose: This systematic review aims to consolidate existing genetic and clinical data on non-syndromic dentinogenesis imperfecta (DI) to enhance understanding of its etiology.
Methods: Electronic databases were searched for genetic familial linkage studies published in English without time restrictions. Genetic familial linkage studies that reported cases of Shield's classifications: DI-II, DI-III or DD-II were included.
Insights into age-related osteoporosis from senescence-based preclinical models and human accelerated aging paradigms.
Mech Ageing Dev
January 2025
Department of Medicine, Divisions of Geriatric Medicine and Gerontology, the Department of Physiology and Biomedical Engineering, and the Robert and Arlene Kogod Center on Aging, Mayo Clinic, Rochester, Minnesota. Electronic address:
Preclinical models of age-related osteoporosis have been developed based on the accumulation and clearance of senescent cells. The former include animal models based on telomere dysfunction and focal radiation; the latter based on genetic and pharmacological targeting (i.e.
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