Results 61 to 70 of about 12,192,107 (344)
Frontiers in Pediatrics, 2021 Progressive osseous heteroplasia (POH; OMIM 166350) is a rare autosomal-dominant genetic disorder in which extra-skeletal bone forms within skin and muscle tissue.
Antonio José Justicia-Grande +17 more
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FEBS Letters, EarlyView.In lymphoid organs, antigen recognition and B cell receptor signaling rely on integrins and the cytoskeleton. Integrins act as mechanoreceptors, couple B cell receptor activation to cytoskeletal remodeling, and support immune synapse formation as well as antigen extraction.
Abhishek Pethe, Tanja Nicole Hartmann
wiley +1 more source
Variation of Structure and Cellular Functions of Type IA Topoisomerases across the Tree of Life
CellsTopoisomerases regulate the topological state of cellular genomes to prevent impediments to vital cellular processes, including replication and transcription from suboptimal supercoiling of double-stranded DNA, and to untangle topological barriers ...
Kemin Tan, Yuk-Ching Tse-Dinh
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Drugs in R&D, 2023 Background and Objective Fabry disease (FD) is a rare lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A (aGal A). Since 2001, two different enzyme replacement therapies have been authorized, with agalsidase beta being used
André B. P. van Kuilenburg +11 more
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The Potential of CRISPR/Cas9 Gene Editing as a Treatment Strategy for Inherited Diseases
Frontiers in Cell and Developmental Biology, 2021 Clustered regularly interspaced short palindromic repeats (CRISPR) is a promising innovative technology for genomic editing that offers scientists the chance to edit DNA structures and change gene function.
Sameh A. Abdelnour +5 more
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Pathway-based classification of genetic diseases
Molecular Cytogenetics, 2019 In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and “factor-centric”; a disease may be, thereby, designated as monogenic, oligogenic or ...
I. Iourov, S. Vorsanova, Y. Yurov
semanticscholar +1 more source
FEBS Letters, EarlyView.Spot‐14 and Spot‐14R play distinct roles in regulating metabolism in brown and beige adipocytes. While both influence lipid and glucose pathways, Spot‐14 uniquely controls thermogenic gene expression. This dual regulation balances energy storage and heat production, highlighting potential therapeutic targets for obesity and metabolic disorders. Spot 14
Lidia Itzel Castro‐Rodríguez +3 more
wiley +1 more source
The RaDiCo information system for rare disease cohorts
Orphanet Journal of Rare DiseasesBackground Rare diseases (RDs) clinical care and research face several challenges. Patients are dispersed over large geographic areas, their number per disease is limited, just like the number of researchers involved.
Paul Landais +4 more
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Integrating Genetic Data into Electronic Health Records: Medical Geneticists' Perspectives [PDF]
Healthcare Informatics Research, 2019 ObjectivesGenetic disorders are the main causes of many other diseases. Integrating genetic data into Electronic Health Records (EHRs) can facilitate the management of genetic information and care of patients in clinical practices.
Haleh Ayatollahi +2 more
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Emphasized the diagnosis and therapy of curative neurogenetic diseases
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 In recent years, great progress has been made in the treatment of neurogenetic diseases. Specific drugs have been used to treat diseases that were uncurable in the past, and there are noteworthy curative effects.
ZHANG Cheng
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