Results 61 to 70 of about 314,830 (333)
DNA methylation and DNA methyltransferases [PDF]
The prevailing views as to the form, function, and regulation of genomic methylation patterns have their origin many years in the past, at a time when the structure of the mammalian genome was only dimly perceived, when the number of protein-encoding ...
Bestor, Timothy H+3 more
core +3 more sources
Cell‐free and extracellular vesicle microRNAs with clinical utility for solid tumors
Cell‐free microRNAs (cfmiRs) are small‐RNA circulating molecules detectable in almost all body biofluids. Innovative technologies have improved the application of cfmiRs to oncology, with a focus on clinical needs for different solid tumors, but with emphasis on diagnosis, prognosis, cancer recurrence, as well as treatment monitoring.
Yoshinori Hayashi+6 more
wiley +1 more source
Pre-implantation Genetic Testing for Aneuploidy (PGT-A)
Preimplantation genetic diagnosis (PGD) or embryo selection was first performed in 1989 using PCR for gender selection to avoid X-linked recessive disorder. However, there was a misdiagnosis due to allele drop out (ADO). Therefore, fluorescent in situ
Wirawit Piyamongkol
doaj +1 more source
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin+14 more
wiley +1 more source
Chromosomal aberrations as a cause of infertility: diagnosis and genetic counseling in Las Tunas
Background: infertility is a clinical problem with a significant social medical impact on the health of the couple. It is considered that 36 % of the genetic causes of infertility are caused by chromosomal aberrations.Objective: to describe the results ...
Enelis Reyes Reyes+4 more
doaj
Disorders of sex development (DSD), formerly termed “intersex” conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD.
Lei Zhang+4 more
doaj +1 more source
The chromosome 17q21.31 microduplication syndrome is a rare genetic syndrome presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction.
Federica Saia+4 more
doaj +1 more source
Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer
We used whole exome and RNA‐sequencing to profile divergent genomic and transcriptomic landscapes of microsatellite stable (MSS) and microsatellite instable (MSI) colorectal cancer. Alterations were classified using a computational score for integrative cancer variant annotation and prioritization.
Efstathios‐Iason Vlachavas+15 more
wiley +1 more source
The spectrum and prevalence of genetic pathology among the population of a certain region are determined by the founder effect and microevolution factors and, therefore, are not always comparable in different countries.
Olena Fedota, Iurii Sadovnychenko, Mykola Hryshchenko, Kostiantyn Tyshchenko, Yana Hryshchenko
doaj
Classification of acute myeloid leukemia based on multi‐omics and prognosis prediction value
The Unsupervised AML Multi‐Omics Classification System (UAMOCS) integrates genomic, methylation, and transcriptomic data to categorize AML patients into three subtypes (UAMOCS1‐3). This classification reveals clinical relevance, highlighting immune and chromosomal characteristics, prognosis, and therapeutic vulnerabilities.
Yang Song+13 more
wiley +1 more source