Results 61 to 70 of about 314,830 (333)

DNA methylation and DNA methyltransferases [PDF]

open access: yes, 2017
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

open access: yesMolecular Oncology, EarlyView.
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)

open access: yesThai Journal of Obstetrics and Gynaecology, 2020
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 with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

open access: yesMolecular Oncology, EarlyView.
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

open access: yesRevista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017
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  

A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia

open access: yesCase Reports in Endocrinology, 2013
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

17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability

open access: yesReports, 2023
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

open access: yesMolecular Oncology, EarlyView.
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 children and adolescents of the northern districts of kharkiv region

open access: yesАктуальні проблеми сучасної медицини, 2019
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

open access: yesMolecular Oncology, EarlyView.
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

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