Results 51 to 60 of about 771,131 (233)
Different frequency patterns of synonymous, non-synonymous and nonsense mutations.
, 2018 As expected, in the HIV pol gene, synonymous mutations occurred more frequently than non-synonymous mutations, which occurred more frequently than nonsense mutations, which were not observed at all.
Marion Hartl (5464361) +5 more
core +1 more source
Advanced Science, EarlyView.Anti‐PD‐1/PD‐L1 blockade has revolutionized cancer immunotherapy, but is ineffective against endocrine‐treated (i.e., Tamoxifen), relapsed ER+ breast cancer (BC) patients. This study provides insight into the sub‐optimal response of ER+BCs to anti‐PD‐1/PD‐L1 blockade – highlighting the induction of STING and the CEACAM1/TIM3 axis after chronic ...
Marvin Angelo E Aberin +20 more
wiley +1 more source
Biosafety and Health, 2020 The virulence of influenza viruses is a complex multigenic trait. Previous studies about the virulence determinants of influenza viruses mainly focused on amino acid sites, ignoring the influence of nucleotide mutations.
Yousong Peng +10 more
doaj +1 more source
A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency. [PDF]
PLoS Genetics, 2018 Synonymous mutations continue to be filtered out from most large-scale cancer genome studies, but several lines of evidence suggest they can play driver roles in neoplastic disease.
Valeria Pecce +10 more
doaj +1 more source
Advanced Science, EarlyView.A cytokinin pathway transcription factor, RR2b, was artificially selected during soybean domestication and improvement based on its differential transcriptional activity, which correlates with ATT repeat polymorphisms in its promoter. RR2b balances yield and defense by fine‐tuning its expression level and offers a promising target for decoupling trade ...
Qun Ma +11 more
wiley +1 more source
Advanced Science, EarlyView.CA9‐targeted PET imaging could be a noninvasive approach to characterize clear cell renal cell carcinoma and associated tumor biology. PET uptake correlates with tumor CA9 expression and is linked to angiogenic activity, immune remodeling, and metabolic reprogramming.
Kailei Chen +19 more
wiley +1 more source
A BAP1 synonymous mutation results in exon skipping, loss of function and worse patient prognosis
iScience, 2021 Summary: Synonymous mutations are generally disregarded by genomic analyses because they are considered non-pathogenic. We identified and characterized a somatic synonymous mutation in the epigenetic modifier and tumor suppressor BAP1, resulting in exon ...
Jennifer Niersch +6 more
doaj +1 more source
Therapeutic Gene Editing of APOE4 in Sporadic Alzheimer's Disease via Prime Editor 7
Advanced Science, EarlyView.Prime Editor 7‐mediated conversion of APOE4 to APOE3 alleviates Alzheimer's disease‐associated pathology in AD mouse models and patient‐derived neurons and improves cognitive performance in vivo, supporting therapeutic genome editing as a promising strategy for APOE4‐associated neurodegeneration.
Yunkyung Kim +16 more
wiley +1 more source
Molecular Study of Nucleotide Changes of ATPase6 and MT-CYB Genes in the Mitochondrial Genome of Patients with Familial Adenomatous Polyposis (FAP) [PDF]
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2023 Introduction: Familial adenomatous polyposis (FAP) is a rare and hereditary disease in which multiple precancerous polyps develop in the patient's colon. Familial adenomatous polyposis is caused by mutations in the APC gene (5q21).
Mohammad Mehdi Heidari +5 more
doaj
Advanced Science, EarlyView.This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo +17 more
wiley +1 more source