Results 171 to 180 of about 92,914 (298)

Identification of genetically predicted protein biomarkers and drug targets for prostate cancer via Mendelian randomization

open access: yesVIEW, EarlyView.
Prostate cancer, a leading cause of cancer in men globally, urgently requires improved diagnostic and treatment strategies. This study analyzed large genetic datasets and identified five key proteins (THBD, DST, IFI27L2, OSBPL10, PPP1R14A) that either increase or decrease cancer risk, while also exploring their roles in immune response and potential ...
Maoping Cai   +11 more
wiley   +1 more source

Multi‐Omics Analysis Reveals Coordinated Adaptations in Genes, Metabolism, and Gut Microbiota Underpinning Herbivory in Lordiphosa Flies

open access: yesIntegrative Zoology, EarlyView.
Multi‐omics analysis reveals that herbivorous adaptation in Lordiphosa flies arises from coordinated interactions across the genome, transcriptome, and gut microbiota: genomic expansions of detoxification (e.g., cytochrome P450s) and carbohydrate metabolism gene families, transcriptomic upregulation of energy pathways like lipid oxidation and ...
Run Guo   +4 more
wiley   +1 more source

A luminal non‐coding RNA‐based genomic classifier confirms favourable outcomes in patients with clinically organ‐confined bladder cancer treated with radical cystectomy

open access: yesBJU International, Volume 135, Issue 4, Page 648-656, April 2025.
Objective To further evaluate a genomic classifier (GC) in a cohort of patients undergoing radical cystectomy (RC), as long non‐coding RNA (lncRNA)‐based genomic profiling has suggested utility in identifying a distinct tumour subgroup corresponding to a favourable prognosis in patients with bladder cancer.
Joep J. de Jong   +14 more
wiley   +1 more source

Targeting the Hedgehog Signaling Pathway in the Retina Using Quercetin-Loaded Lipid Nanoparticles for Myopia Control. [PDF]

open access: yesTransl Vis Sci Technol
Zhao L   +10 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

open access: yesClinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis   +9 more
wiley   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

open access: yesClinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa   +4 more
wiley   +1 more source

Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia

open access: yesClinical Genetics, EarlyView.
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise   +5 more
wiley   +1 more source

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