Results 91 to 100 of about 95,440 (308)
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro +5 more
wiley +1 more source
The DNA methylation level against the background of the genome size and t-heterochromatin content in some species of the genus Secale L [PDF]
PeerJ, 2017 Methylation of cytosine in DNA is one of the most important epigenetic modifications in eukaryotes and plays a crucial role in the regulation of gene activity and the maintenance of genomic integrity.
Anna Kalinka +2 more
doaj +2 more sources
DNA methylation in Drosophila melanogaster may depend on lineage heterogeneity [PDF]
, 2012 DNA methylation has been discovered in Drosophila only recently. Current evidence indicates that de novo methylation patterns in drosophila are maintained in a different way compared to vertebrates and plants.
Kozeretska, I.A. +4 more
core +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
A Modified Protocol for Bisulfite Genomic Sequencing of Difficult Samples
Biological Procedures Online, 2009 The bisulfite genomic sequencing protocol is a widely used method for analyzing DNA methylation. It relies on the deamination of unmethylated cytosine residues to uracil; however, its high rates of DNA degradation and incomplete cytosine to uracil ...
Pappas Jane J +2 more
doaj +3 more sources
Library Construction for Genome-wide Bisulfite Sequencing in Plants
Bio-Protocol, 2013 DNA methylation is the most studied epigenetic modification, which involves the addition of a methyl group to the carbon-5 position of cytosine residues in DNA. DNA methylation is important for the regulation of gene expression.
David Amador +3 more
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang +14 more
wiley +1 more source
Microbial carcinogenic toxins and dietary anti-cancer protectants [PDF]
, 2017 Several toxins are known which account for the ability of some bacteria to initiate or promote carcinogenesis. These ideas are summarised and evidence is discussed for more specific mechanisms involving chymotrypsin and the bacterial chymotryptic enzyme ...
Darlington, L. Gail, Stone, Trevor W.
core +2 more sources
The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding
Animal Research and One Health, EarlyView.A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang +10 more
wiley +1 more source
Recurrent acral ulcerations associated with DNA methyltransferase 1-complex disorder
Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2022 DNA methyltransferase 1, encoded by DNMT gene, is a crucial DNA methyltransferase with essential roles in transcription regulation, gene imprinting, and cell differentiation.
Diogo Cerejeira +4 more
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