Results 71 to 80 of about 2,355,082 (334)
Conceptualization of Genetic Disease [PDF]
, 2015 The expression “genetic disease” suggests the idea that one or more genes cause a disease. Since the identification of the so-called disease-causing genes, many genetic variants associated with common diseases such as diabetes or cancer have been identified.
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Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene [PDF]
, 2019 Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Amaral, Olga +5 more
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Single‐cell insights into the role of T cells in B‐cell malignancies
FEBS Letters, EarlyView.Single‐cell technologies have transformed our understanding of T cell–tumor cell interactions in B‐cell malignancies, revealing new T‐cell subsets, functional states, and immune evasion mechanisms. This Review synthesizes these findings, highlighting the roles of T cells in pathogenesis, progression, and therapy response, and underscoring their ...
Laura Llaó‐Cid
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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Genetics of gallstone disease [PDF]
European Journal of Clinical Investigation, 2018 AbstractBackgroundGallstone disease (GD) belongs to the most frequent disorders in gastroenterology and causes high costs in our health‐care systems. Gallstones are uncommon in children but frequent in adults, in particular in women, and are triggered by exogenous risk factors.
Marcin Krawczyk +3 more
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Soluble Epoxide Hydrolase Inhibition for Ocular Diseases: Vision for the Future [PDF]
, 2019 Ocular diseases cause visual impairment and blindness, imposing a devastating impact on quality of life and a substantial societal economic burden. Many such diseases lack universally effective pharmacotherapies.
Corson, Timothy W., Park, Bomina
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FEBS Letters, EarlyView.Extracellular vesicles (EVs) mediate intercellular communication in tumor immune microenvironments. However, their role in B‐cell malignancies remains poorly defined, owing to biological complexity and technical challenges in EV isolation and analysis.
Daniel Bachurski, Michael Hallek
wiley +1 more source
Growth disorders caused by variants in epigenetic regulators: progress and prospects
Frontiers in EndocrinologyEpigenetic modifications play an important role in regulation of transcription and gene expression. The molecular machinery governing epigenetic modifications, also known as epigenetic regulators, include non-coding RNA, chromatin remodelers, and enzymes
Julian C. Lui
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Genetics of kidney disease [PDF]
Kidney International, 2003 Multiple lines of evidence suggest that susceptibility to develop end-stage renal disease (ESRD) has a significant genetic component. These studies include familial aggregation studies, comparisons of incidence rates between different racial or ethnic populations, and segregation analysis. Multiple approaches have been employed in an effort to identify
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High-Throughput and Cost-Effective Characterization of Induced Pluripotent Stem Cells. [PDF]
, 2017 Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) offers the possibility of studying the molecular mechanisms underlying human diseases in cell types difficult to extract from living patients, such as neurons and cardiomyocytes.
Arias, Angelo +12 more
core +2 more sources