Results 111 to 120 of about 241,061 (333)
The prognostic value of TP53 mutations in hypopharyngeal squamous cell carcinoma
BMC Cancer, 2017 Background TP53 is the most frequently mutated gene in human cancers. Previous studies reported that TP53 mutations correlated with poor prognoses in patients with head and neck squamous cell carcinoma (HNSCC).
Go Omura +9 more
doaj +1 more source
Evolutionary aspects in evaluating mutations in the melanocortin 4 receptor [PDF]
, 2007 More than 70 missense mutations have been identified in the human melanocortin 4 receptor (MC4R), and many of them have been associated with obesity. In a number of cases, the causal link between mutations in MC4R and obesity is controversially discussed.
Annette Grüters +34 more
core +1 more source
Advanced Science, EarlyView.The study identifies a novel circular RNA derived from the TP53 gene (circTP53), which is upregulated in HNSCC and correlates with poor patient prognosis. It demonstrates that circTP53 promotes HNSCC progression by interacting with USP10, stabilizing both proteins, enhancing deubiquitination of p53, and thereby influencing tumor growth, with its ...
Yin Wang +11 more
wiley +1 more source
Pakistan Armed Forces Medical Journal, 2018 Objective: To identify the phenotype and genotype of hypodontia for a Pakistani family with hypodontia and to map the genes locus responsible for this disease. Study Design: Descriptive study.
Muhammad Nawaz +4 more
doaj
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome
Case Reports in Genetics, 2017 Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races.
Thi Kim Lien Nguyen +5 more
doaj +1 more source
A Family with A Missense Mutation in the SCN5A Gene
Korean Circulation Journal, 2003 Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation, is characterized by ST- segment elevation in leads V1-3 and right bundle-branch block on surface electrocardiogram. It is caused by mutations in the cardiac sodium channel gene, SCN5A, and to the best of our knowledge, there has been no report of this mutation in ...
Yong Bock Choi +8 more
openaire +2 more sources
AlphaFold‐Guided Bespoke Gene Editing Enhances Field‐Grown Soybean Oil Contents
Advanced Science, EarlyView.An AlphaFold‐guided method is developed to functionally optimize soybean sugar transporters and achieve bespoke gene editing of GmSWEET10a/b to improve oil content in an elite soybean cultivar in multi‐year, multi‐site field trials. The combination of AI‐guided protein design and gene editing may unlock a huge potential to improve the genetic trait de ...
Jie Wang +22 more
wiley +1 more source
Advanced Science, EarlyView.Compared with the non‐risk G allele of rs9606, the risk T allele of rs9606 decreases the binding affinity of NUDT21 for LYRM4, triggering 3'UTR shortening that stabilizes LYRM4 mRNA and elevates its expression. Increased LYRM4 expression promoted malignant phenotypes of non‐small cell lung cancer (NSCLC) cells through modulating ferroptosis, supporting
Meng Jin +11 more
wiley +1 more source
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies [PDF]
, 2015 Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, and growth.
Anselmi, Massimiliano +30 more
core +3 more sources
Advanced Science, EarlyView.This study demonstrates that mutant FAT1 promotes ASCL2‐driven, CPT1A‐dependent fatty acid oxidation, leading to resistance to CPI‐613‐mediated TCA cycle inhibition in head and neck cancer. In vivo gene depletion of mutant FAT1 with LNP‐sgFAT1 suppresses tumor growth and restores CPI‐613 sensitivity, revealing a targetable metabolic bypass with ...
Fanghui Chen +11 more
wiley +1 more source