Results 51 to 60 of about 52,373 (299)
Partial duplication of the
BMC Genomics, 2008 Background One of the loci responsible for feather development in chickens is K. The K allele is partially dominant to the k+ allele and causes a retard in the emergence of flight feathers at hatch.
Crooijmans Richard PMA +4 more
doaj +1 more source
Molecular Oncology, EarlyView.Glioma cells mainly express the endothelin receptor EDNRB, while EDNRA is restricted to a perivascular tumor subpopulation. Endothelin signaling reduces glioma cell proliferation while promoting migration and a proneural‐to‐mesenchymal transition associated with poor prognosis. This pathway activates Ca2+, K+, ERK, and STAT3 signalings and is regulated
Donovan Pineau +36 more
wiley +1 more source
The Combinatorics of Tandem Duplication
, 2014 24 Pages, 7 Figures, 1 ...
Penso-Dolfin, L, Greenman, CD
openaire +2 more sources
Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
Molecular Oncology, EarlyView.The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source
BMC Cancer, 2005 The FANCA gene is one of the genes in which mutations lead to Fanconi anaemia, a rare autosomal recessive disorder characterised by congenital abnormalities, bone marrow failure, and predisposition to malignancy.
Campbell Ian G +5 more
doaj +1 more source
FLT3 Length Mutations as Marker for Follow-Up Studies in Acute Myeloid Leukaemia [PDF]
, 2004 Length mutations within the FLT3 gene (FLT3-LM) can be found in 23% of acute myeloid leukaemia (AML) and thus are the most frequent mutations in AML. FLT3-LM are highly correlated with AML with normal karyotype and other cytogenetic aberrations of the ...
Kern, Wolfgang +4 more
core +1 more source
Loss of IGF‐1R impairs DNA‐PKcs recruitment to chromatin leading to defective end‐joining
Molecular Oncology, EarlyView.IGF‐1R promotes radioresistance by facilitating DNA‐PKcs recruitment to chromatin, enabling non‐homologous end‐joining (NHEJ) repair of double‐strand breaks. Inhibition or loss of IGF‐1R disrupts this recruitment to damage sites, driving compensatory reliance on microhomology‐mediated end‐joining (MMEJ) repair.
Matthew O. Ellis +3 more
wiley +1 more source
Generation of tandem direct duplications by reversed-ends transposition of maize ac elements. [PDF]
PLoS Genetics, 2013 Tandem direct duplications are a common feature of the genomes of eukaryotes ranging from yeast to human, where they comprise a significant fraction of copy number variations.
Jianbo Zhang, Tao Zuo, Thomas Peterson
doaj +1 more source
Origin of alternative splicing by tandem exon duplication [PDF]
Human Molecular Genetics, 2001 Genes with new functions often evolve by gene duplication. Alternative splicing is another means of evolutionary innovation in eukaryotes, which allows a single gene to encode functionally diverse proteins. We investigate a connection between these two evolutionary phenomena.
F A, Kondrashov, E V, Koonin
openaire +2 more sources
Finding novel vulnerabilities of hypomorphic BRCA1 alleles
Molecular Oncology, EarlyView.Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder +10 more
wiley +1 more source