Results 181 to 190 of about 199,160 (290)

The TP53 tumor suppressor gene: From molecular biology to clinical investigations

open access: yesJournal of Internal Medicine, EarlyView.
Abstract Extensively studied over the past four decades, the TP53 gene has emerged as a pivotal watchman in cellular defense and a key factor in cancer biology. TP53 is the most frequently mutated gene in human malignancies, 50% of which carry alterations to it.
Panagiotis Baliakas, Thierry Soussi
wiley   +1 more source

Identification of EppR, a Second Repressor of Error‐Prone DNA Polymerase Genes in Acinetobacter baumannii

open access: yesMolecular Microbiology, EarlyView.
A novel TetR‐like regulator (EppR) has been identified to repress genes encoding DNA polymerase V in Acinetobacter baumannii through the direct binding of a conserved EppR motif in their promoters. EppR works with previously identified regulator UmuDAb to serve as co‐regulators of these genes. In response to DNA damage and/or environmental stress, both
Brian Nguyen   +6 more
wiley   +1 more source

TIR innovations in plant immunity

open access: yesNew Phytologist, EarlyView.
Summary Toll/interleukin‐1 receptor (TIR) domain‐containing immune receptors are crucial for plant immunity, with recent advancements highlighting the enzymatic functions of TIR domains and their production of signaling molecules. TIR‐catalyzed compounds interact with receptors to form functional modules that trigger the oligomerization of helper ...
Zhongshou Wu
wiley   +1 more source

Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants. [PDF]

open access: yes, 2019
Available CFTR modulators provide no therapeutic benefit for cystic fibrosis (CF) caused by many loss-of-function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel, including N1303K. We previously introduced the
Finkbeiner, Walter E   +7 more
core  

Phytochrome A is required for light‐inhibited germination of Aethionema arabicum seed

open access: yesNew Phytologist, EarlyView.
Summary The germination of most seeds is influenced by the duration, intensity, and quality of light. The seeds of the model plant Arabidopsis are positive photoblastic and require light to germinate. The germination of negative photoblastic seeds is inhibited by white light.
Zsuzsanna Mérai   +4 more
wiley   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

open access: yesObesity Reviews, EarlyView.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

Expanding the Spectrum of Canine Diffuse Large B‐Cell Lymphoma Genetic Aberrations Through Whole Genome Sequencing Analysis

open access: yesVeterinary and Comparative Oncology, EarlyView.
ABSTRACT Diffuse large B‐cell lymphoma (DLBCL) is one of the most prevalent haematological malignancies in both humans and dogs, characterised in both species by significant clinical heterogeneity and limited prognostic predictability. With the introduction of next‐generation sequencing (NGS) technologies in veterinary medicine over the past decade ...
Antonella Fanelli   +4 more
wiley   +1 more source

Kif1a and intact microtubules maintain synaptic‐vesicle populations at ribbon synapses in zebrafish hair cells

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Sensory hair cells of the inner ear and lateral‐line system exhibit strong synaptic‐vesicle enrichment at the presynapse, around specialized structures called ribbons. We find that hair cells in the zebrafish lateral‐line system rely on the kinesin motor protein Kif1a and microtubules to enrich synaptic vesicles at presynaptic ...
Sandeep David   +7 more
wiley   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt   +4 more
wiley   +1 more source

The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome

open access: yesClinical Genetics, Volume 108, Issue 2, Page 168-178, August 2025.
Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Ilia Valentin   +4 more
wiley   +1 more source

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