FPGS relapse-specific mutations in relapsed childhood acute lymphoblastic leukemia
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-69059-y
Abstract: Although the cure rate for childhood acute lymphoblastic leukemia (ALL) has exceeded 80% with contemporary therapy, relapsed ALL remains a leading cause of cancer-related death in children. Relapse-specific mutations can be identified by comprehensive genome… read more here.
Keywords: specific mutations; relapse specific; childhood acute; acute lymphoblastic ... See more keywords
Domain specific mutations in dyskerin disrupt 3′ end processing of scaRNA13
Sign Up to like & getrecommendations! Published in 2022 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkac706
Abstract: Abstract Mutations in DKC1 (encoding dyskerin) cause telomere diseases including dyskeratosis congenita (DC) by decreasing steady-state levels of TERC, the non-coding RNA component of telomerase. How DKC1 mutations variably impact numerous other snoRNAs remains unclear,… read more here.
Keywords: scarna13; end; domain specific; domain ... See more keywords
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1
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DOI: 10.1177/0022034517726496
Abstract: Here we describe the genotype-phenotype correlations of diseases caused by variants in Fibroblast Growth Factor Receptor 1 (FGFR1) and report a novel, de novo variant in FGFR1 in an individual with multiple congenital anomalies. The… read more here.
Keywords: domain specific; maps explore; specific mutations; use variant ... See more keywords
Specific Mutations in Aph1 Cause γ-Secretase Activation
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23010507
Abstract: Amyloid beta peptides (Aβs) are generated from amyloid precursor protein (APP) through multiple cleavage steps mediated by γ-secretase, including endoproteolysis and carboxypeptidase-like trimming. The generation of neurotoxic Aβ42/43 species is enhanced by familial Alzheimer’s disease… read more here.
Keywords: function; aph1 cause; fad mutations; secretase ... See more keywords
Prime Editing Permits the Introduction of Specific Mutations in the Gene Responsible for Duchenne Muscular Dystrophy
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DOI: 10.3390/ijms23116160
Abstract: The Prime editing technique derived from the CRISPR/Cas9 discovery permits the modification of selected nucleotides in a specific gene. We used it to insert specific point mutations in exons 9, 20, 35, 43, 55 and… read more here.
Keywords: duchenne muscular; dmd gene; prime editing; muscular dystrophy ... See more keywords