Results 111 to 120 of about 453,665 (301)

DCAF13 Safeguards Hematopoietic Stem Cells via RRS1‐Regulated Ribosome Biogenesis

open access: yesAdvanced Science, EarlyView.
This study establishes DCAF13 as an essential regulator for hematopoietic stem cell (HSC) function. Its deletion in mice causes lethal pancytopenia and HSC depletion. Mechanistically, DCAF13 interacts with RRS1 and mediates its non‐degradative K27‐linked ubiquitination, thereby stabilizing RRS1 to maintain ribosome biogenesis and protein translation ...
Mengke Li   +25 more
wiley   +1 more source

Detection of AZF microdeletions and analysis of reproductive hormonal profiles in Hainan men undergoing assisted reproductive technology

open access: yesBMC Urology
Background Male infertility has become a global health problem, and genetic factors are one of the essential causes. Y chromosome microdeletion is the leading genetic factor cause of male infertility.
Qina He   +7 more
doaj   +1 more source

Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome

open access: yesFrontiers in Pediatrics, 2018
Chromosome 1q21.1 deletion syndrome is associated with a wide variety of clinical features including mild to moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts. We report an unusual case of a premature neonate with persistent
Bakri Alzarka   +6 more
doaj   +1 more source

Discovery of H2 Receptor Antagonists as Colistin Enhancers by Targeting Acid Stress Response

open access: yesAdvanced Science, EarlyView.
This study identifies YqgB as a key target for restoring colistin susceptibility in mcr‐positive pathogens under acidic conditions by remodeling phospholipid composition and reducing LPS modification. Deep learning‐based screening reveals H2 receptor antagonists as novel colistin adjuvants. Further investigations indicate that ranitidine and famotidine
Jinju Cai   +7 more
wiley   +1 more source

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]

open access: yes, 2019
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina   +8 more
core  

Metabolic Regulation of Dimethylsulfoniopropionate Cleavage and Dimethyl Sulfide Production in Halomonas sp. D47

open access: yesAdvanced Science, EarlyView.
Dimethylsulfoniopropionate (DMSP) is a major marine organosulfur compound central to climate‐relevant dimethyl sulfide (DMS) production. In Halomonas sp. D47, DMSP catabolism is revealed to be coordinated by two transcriptional regulators, AcuR and AcuZ, which control gene expression by sensing DMSP and its metabolites.
Li‐Yuan Zheng   +16 more
wiley   +1 more source

Molecular analysis of myelodysplastic syndrome with isolated deletion of the long arm of chromosome 5 reveals a specific spectrum of molecular mutations with prognostic impact: a study on 123 patients and 27 genes

open access: yesHaematologica, 2017
The only cytogenetic aberration defining a myelodysplastic syndrome subtype is the deletion of the long arm of chromosome 5, which, along with morphological features, leads to the diagnosis of myelodysplastic syndrome with isolated deletion of the long ...
Manja Meggendorfer   +3 more
doaj   +1 more source

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

open access: yesAdvanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang   +8 more
wiley   +1 more source

chromosome deletion

open access: yes
Citation: 'chromosome deletion' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10525 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +1 more source

Targeting Lactate and Lactylation in Cancer Metabolism and Immunotherapy

open access: yesAdvanced Science, EarlyView.
Lactate, once deemed a metabolic waste, emerges as a central regulator of cancer progression. This review elucidates how lactate and its epigenetic derivative, protein lactylation, orchestrate tumor metabolism, immune suppression, and therapeutic resistance.
Jiajing Gong   +5 more
wiley   +1 more source

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