Results 171 to 180 of about 91,338 (344)
Polyploidy as an Adaptation against Loss of Heterozygosity in Cancer. [PDF]
Int J Mol Sci, 2022 Archetti M.
europepmc +1 more source
Microsatellite instability and/or loss of heterozygosity in young gastric cancer patients in Italy [PDF]
, 1999 Yih‐Horng Shiao +9 more
openalex +1 more source
Animal Models and Experimental Medicine, EarlyView.In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang +9 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.Multiple low dose streptozotocin‐induced diabetes is a valuable animal model of diabetes type 1. It should be improved by further research on autoantigens, microbiota and mucosal immune cells from the gut, but also from other organs. Abstract The autoimmune response directed against pancreatic β cells is the most essential pathogenic process in type 1 ...
Ivan Koprivica +4 more
wiley +1 more source
Loss of heterozygosity in fibrocystic change [PDF]
Breast Cancer Research, 2000 openaire +2 more sources
Animal Models and Experimental Medicine, EarlyView.Deleting Col6a3 exon 3 by CRISPR in mice results in centralized nuclei consistent with a myopathy phenotype mimicking collagen VI‐associated human disease Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein.
Michel ElChoueiry +12 more
wiley +1 more source
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease
Annals of Neurology, EarlyView.Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias +23 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji +10 more
wiley +1 more source