Results 61 to 70 of about 718,264 (305)
Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene [PDF]
, 2018 Purpose: To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD). Methods: All accessible family members were included.
Ambresin, Aude +8 more
core
Molecular Oncology, EarlyView.Cancer stem cells are associated with aggressive disease, but a deep characterization of such markers is lacking in endometrial cancer. This study uses imaging mass cytometry to explore putative cancer stem cell markers in endometrial tumors and corresponding organoid models.
Hilde E. Lien +7 more
wiley +1 more source
Learning How to Mutate Source Code from Bug-Fixes [PDF]
arXiv, 2018 Mutation testing has been widely accepted as an approach to guide test case generation or to assess the effectiveness of test suites. Empirical studies have shown that mutants are representative of real faults; yet they also indicated a clear need for better, possibly customized, mutation operators and strategies.
arxiv
Abnormality of water homeostasis of Muscular dystrophic chicken [PDF]
, 2014 The muscular dystrophy chicken has been studying as model animal of muscular dystrophy for more than 50 years. Recently, the mutation of WW domain containing E3 ubiquitin protein ligase 1 (WWP1) gene has been identified as a responsible for muscular ...
Saito, Noboru
core
Molecular Oncology, EarlyView.This study investigates an alternative approach to reactivating the oncosuppressor p53 in cancer. A short peptide targeting the association of the two p53 inhibitors, MDM2 and MDM4, induces an otherwise therapeutically active p53 with unique features that promote cell death and potentially reduce toxicity towards proliferating nontumor cells.
Sonia Valentini +10 more
wiley +1 more source
A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids [PDF]
, 2013 We report a family with a novel CSF1R mutation causing hereditary diffuse leucoencephalopathy with axonal spheroids. Family members presented with neuropsychiatric and behavioural symptoms, with subsequent development of motor symptoms and gait ...
Ahmed, R +6 more
core +1 more source
Molecular Oncology, EarlyView.Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley +1 more source
Molecular Oncology, EarlyView.TGF‐β has a complex role in cancer, exhibiting both tumor‐suppressive and tumor‐promoting properties. Using a series of differentiated tumoroids, derived from different stages and mutational background of colorectal cancer patients, we replicate this duality of TGF‐β in vitro. Notably, the atypical but highly aggressive KRASQ22K mutation rendered early‐
Theresia Mair +17 more
wiley +1 more source
Tilting modules arising from knot invariants [PDF]
arXiv, 2020 We construct tilting modules over Jacobian algebras arising from knots. To a two-bridge knot $L[a_1,\ldots,a_n]$, we associate a quiver $Q$ with potential and its Jacobian algebra $A$. We construct a family of canonical indecomposable $A$-modules $M(i)$, each supported on a different specific subquiver $Q(i)$ of $Q$.
arxiv
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]
, 2003 BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F. +5 more
core +1 more source