Results 81 to 90 of about 92,482 (260)

Integrative Genomic and Transcriptomic Analysis Reveals Targetable Vulnerabilities in Angioimmunoblastic T‐Cell Lymphoma

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Nodal follicular helper T‐cell (TFH) lymphoma of the angioimmunoblastic (AITL) subtype has a dismal prognosis. Using whole‐exome sequencing (n = 124), transcriptomic (n = 78), and methylation (n = 40) analysis, we identified recurrent mutations in known epigenetic drivers (TET2, DNMT3A, IDH2R172) and novel ones (TET3, KMT2D).
Alyssa Bouska   +43 more
wiley   +1 more source

Transgenic plants as a model for studying еpigenetic regulation of gene expression

open access: yesВавиловский журнал генетики и селекции, 2015
The phenomenon of loss of expression of transferred genes in transgenic plants was discovered in the early 1990s. The study of this phenomenon revealed dependence of the frequency of gene silencing on the number of integrated copies in the plant genome ...
T. V. Marenkova, E. V. Deineko
doaj  

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini   +8 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione   +12 more
wiley   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey   +6 more
wiley   +1 more source

Identification of ferroptosis‐related genes involved in chronic obstructive pulmonary disease based on bioinformatics analysis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The design of the entire paper. Green part represents the bioinformatics analysis approach. Yellow part represents the ideas of animal experiment. Abstract Background Chronic obstructive pulmonary disease (COPD) is a type of chronic respiratory disease.
Xuejing Luan   +5 more
wiley   +1 more source

Genomic Evaluation of Recombination in Small Highly Inbred Beef Cattle Populations

open access: yesAnimal Research and One Health, EarlyView.
The study characterizes recombination in small beef cattle populations, revealing higher rates in CGC composites compared to inbred Line 1 Herefords. It identifies significant SNP associations linked to recombination across various autosomes, highlighting complex polygenic influences, with implications for genetic diversity and breeding strategies ...
E. Hay, A. S. Ling
wiley   +1 more source

Dietary supplement of sodium butyrate improves the growth performance and intestinal health by targeting Wnt/β‐catenin signaling pathway in rabbits

open access: yesAnimal Research and One Health, EarlyView.
Dietary supplement of sodium butyrate, may relate to regulating intestinal health and thus the growth performance and meat quality of rabbits by regulating the continuous process of promoting the periodic cycle of cecal epithelial cells. Abstract Supplementation of sodium butyrate (SB) has been proved to be beneficial for improving the growth ...
Mengke Ni   +8 more
wiley   +1 more source

MYC: The Guardian of Its Own Chaos

open access: yesBioEssays, EarlyView.
MYC is an oncogene that drives tumorigenesis through enhanced transcription and replication. Paradoxically, MYC induces transcriptional and replicative stress and acts as a resilience factor against these stressors. We discuss how MYC balances these stressors to promote tumor growth while evading immune detection and propose strategies to target MYC ...
Abdallah Gaballa   +2 more
wiley   +1 more source

Compact Origins and Where to Find Them: ORC's Guide to Genome‐Wide Licensing

open access: yesBioEssays, EarlyView.
Origin licensing is a key requirement for any eukaryotic cell to initiate DNA replication in S‐phase. Here, we review the most recent findings in the orchestrated action of the origin recognition complex (ORC) to sequentially load two MCM2‐7 helicases onto DNA with a focus on origin architecture and sequencing‐based methods.
Christian Speck   +1 more
wiley   +1 more source

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