Results 131 to 140 of about 71,046 (242)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Characterization of DNA methylation as a function of biological complexity via dinucleotide inter-distances

open access: yes, 2015
We perform a statistical study of the distances between successive occurrencies of a given dinucleotide in the DNA sequence for a number of organisms of different complexity.
Castellani, Gastone C.   +6 more
core   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

open access: yesAmerican Journal of Hematology, Volume 101, Issue 4, Page 784-793, April 2026.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova   +10 more
wiley   +1 more source

Intragenic CpG Islands and Their Impact on Gene Regulation. [PDF]

open access: yesFront Cell Dev Biol, 2022
Cain JA, Montibus B, Oakey RJ.
europepmc   +1 more source

Dnmt3b ablation impairs fracture repair through upregulation of Notch pathway [PDF]

open access: yes, 2020
We previously established that DNA methyltransferase 3b (Dnmt3b) is the sole Dnmt responsive to fracture repair and that Dnmt3b expression is induced in progenitor cells during fracture repair.
Abu-Amer, Yousef   +8 more
core   +1 more source

Epigenetic Alterations Beyond CpG Islands in Periodontitis: In Silico Study of DNA Methylation Data

open access: yesClinical and Experimental Dental Research, Volume 12, Issue 2, April 2026.
ABSTRACT Objectives To classify differentially methylated CpG sites in periodontitis based on methylation shift direction and location relative to CpG islands. Material and Methods We integrated DNA methylation data from 65 gingival samples (31 periodontitis, 34 healthy) from three GEO datasets.
Koki Yoshida   +2 more
wiley   +1 more source

MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain. [PDF]

open access: yesNat Commun, 2023
Becht DC   +18 more
europepmc   +1 more source

Multiomics Research Strategies in Cancer: A Growing and Innovative Field

open access: yesMedComm, Volume 7, Issue 4, April 2026.
This review highlights multiomics strategies in cancer research, focusing on integration methods from genomics to microbiomics. Using colorectal cancer as a key example, it discusses biomarker discovery, data integration via deep learning, and the roles of single‐cell and spatial omics.
Zhenhua Du   +8 more
wiley   +1 more source

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