Results 61 to 70 of about 35,482 (247)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi +20 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source
Stem Cells Translational Medicine, 2021 Gene editing blood‐derived cells is an attractive approach to cure selected monogenic diseases but remains experimental. A systematic search of preclinical controlled studies is needed to determine the persistence of edited cells following reinfusion ...
Harinad B. Maganti +5 more
doaj +1 more source
Monogenic disorders that mimic the phenotype of Rett syndrome [PDF]
neurogenetics, 2018 Rett syndrome (RTT) is caused by mutations in methyl-CpG-binding protein 2 (MECP2), but defects in a handful of other genes (e.g., CDKL5, FOXG1, MEF2C) can lead to presentations that resemble, but do not completely mirror, classical RTT. In this study, we attempted to identify other monogenic disorders that share features with RTT.
Siddharth Srivastava +6 more
openaire +2 more sources
Annals of Neurology, EarlyView.Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto +12 more
wiley +1 more source
Complexity in simplicity: monogenic disorders and complex cardiomyopathies [PDF]
Journal of Clinical Investigation, 1999 nents of the primary cardiac cytoarchitecture, including components of the cardiac contractile sarcomere, and the intrasarcomeric, and extrasarcomeric cytoskeleton (2, 3, 7). The cytosol of all eukaryotic cells contains a network of protein filaments and associated proteins which collectively constitute the cytoskeleton.
J, Chen, K R, Chien
openaire +2 more sources
From Interferon Signature to the Clinical Landscape: Type I Interferonopathies
Arthritis &Rheumatology, Accepted Article.Background Type I interferonopathies are heterogeneous diseases driven by dysregulated IFN‐I signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. Objective To characterize the clinical, immunological, genetic, molecular profiles of patients with suspected enhanced IFN‐I signaling, and assess ...
Ismail Yaz +13 more
wiley +1 more source
Gene therapy for monogenic disorders of the bone marrow [PDF]
British Journal of Haematology, 2015 SummaryEx‐vivo gene transfer of autologous haematopoietic stem cells in patients with monogenic diseases of the bone marrow has emerged as a new therapeutic approach, mainly in patients lacking a suitable donor for transplant. The encouraging results of initial clinical trials of gene therapy for primary immunodeficiencies were tempered by the ...
Sujal, Ghosh +2 more
openaire +2 more sources
Status and future of recombinant adeno‐associated virus vector manufacturing
Biotechnology Progress, EarlyView.Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley +1 more source