LETHALITY PATTERNS AND MORPHOLOGY OF SELECTED LETHAL AND SEMI-LETHAL MUTATIONS IN THE ZESTE-WHITE REGION OF DROSOPHILA MELANOGASTER [PDF]
, 1972 M P Shannon +3 more
openalex +1 more source
Alkane biosynthesis gene expression and its increased production in recombinant cyanobacteria
FEBS Open Bio, EarlyView.The transcription and mRNA structures of the alkane biosynthesis genes ado/aar were analysed in the representative cyanobacteria PCC 6803 and SK1‐2‐1, which produce C17H36 and C15H32, respectively. PCC 6803 transconjugants carrying these genes showed a 1.8‐ to 2.3‐fold increase in C17H36 production.
Misato Nagao +4 more
wiley +1 more source
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies
Frontiers in Neurology, 2019 The white matter disease spectrum is associated with many genetic diseases, including AARS2, CADASIL, ALD, and others. In this study, to determine the novel alanyl-tRNA synthetase 2 mutation implicated in white matter disease, several families with an ...
Xingao Wang +21 more
doaj +1 more source
Fixation of mutators in asexual populations: the role of genetic drift and epistasis [PDF]
Evolution 67, 1143 (2013), 2012 We study the evolutionary dynamics of an asexual population of nonmutators and mutators on a class of epistatic fitness landscapes. We consider the situation in which all mutations are deleterious and mutators are produced from nonmutators continually at a constant rate.
arxiv
FEBS Open Bio, EarlyView.Etoposide, a topoisomerase II inhibitor, reduces O‐GlcNAcylation in HepG2 liver cancer cells. Further inhibition of O‐GlcNAc transferase by OSMI‐1 enhanced etoposide‐induced apoptosis, lowering the IC50 for viability and increasing the EC50 for cytotoxicity.
Jaehoon Lee +5 more
wiley +1 more source
Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction
Pediatric Reports, 2009 Posterior circulation vascular occlusive disease in children is a rare and uncommonly reported event. Among the numerous risk factors, the methylenetetrahydrofolate reductase (MTHFR) mutation is considered to be a common genetic cause of thrombosis in ...
Alberto Spalice +6 more
doaj +1 more source
Maximum likelihood (ML) estimators for scaled mutation parameters with a strand symmetric mutation model in equilibrium [PDF]
arXiv, 2019 With the multiallelic parent-independent mutation-drift model, the equilibrium proportions of alleles are known to be Dirichlet distributed. A special case is the biallelic model, in which the proportions are beta distributed. A sample taken from these models is then Dirichlet-multinomially or beta-binomially distributed, respectively.
arxiv
Mutation of the RIIβ Subunit of Protein Kinase A Differentially Affects Lipolysis but Not Gene Induction in White Adipose Tissue [PDF]
, 1999 Josep V. Planas +3 more
openalex +1 more source
Understanding and Overcoming Immunotherapy Resistance in Skin Cancer: Mechanisms and Strategies
Aging and Cancer, EarlyView.This narrative review explores the mechanisms driving immunotherapy resistance in skin cancer, including tumor microenvironment factors, genetic mutations, and immune evasion strategies. It highlights potential strategies to overcome resistance, offering insights for improving therapeutic outcomes and guiding future research in personalized ...
Shreya Singh Beniwal +8 more
wiley +1 more source
Darier-White disease in siblings responding to isotretinoin
Indian Dermatology Online Journal, 2010 Darier-White disease (keratosis follicularis) is a rare disorder of keratinization involving the epidermis, mucous membranes, and nails. It is said to occur as a result of mutation in the ATP2A2 gene located on chromosome 12q23-24.1.
Ramesh M Bhat +3 more
doaj +1 more source