Results 81 to 90 of about 837,511 (259)
Annotation and functional prediction of germline mutations.
, 2015 Hom/Het, homozygote/heterozygote; V/T, variation reads/total reads; VUS, variants of uncertain significance; ACMG, American College of Medical Genetics.Annotation and functional prediction of germline mutations.
Liu Yang (23752) +6 more
core +1 more source
Advanced Science, EarlyView.Engineering of the 148‐germline (148‐GL) antibody reveals a roadmap for overcoming SARS‐CoV‐2 viral escape. By introducing four specific somatic hypermutations, the resulting 148‐M4 variant restores potent neutralization against Omicron BA.1 and BA.4/5.
Huibin Lv +14 more
wiley +1 more source
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer
BMC Cancer, 2020 Background Poly (ADP-ribose) polymerase inhibitors targeting BRCA1/2 mutations are available for treating patients with high-grade serous ovarian cancer.
Kyung Jin Eoh +6 more
doaj +1 more source
Image_1_Analysis of BRCA Germline Mutations in Chinese Prostate Cancer Patients.tif
, 2022 Recent studies have indicated that prostate cancer (PCa) with BRCA2 mutations is more aggressive. However, these reports mostly focused on Caucasus populations, and large-scale studies on BRCA mutations in Chinese PCa populations remain limited.
Wei Xia (349131) +12 more
core +1 more source
Advanced Science, EarlyView.FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni +17 more
wiley +1 more source
Advanced Science, EarlyView.An interpretable, unsupervised artificial intelligence framework identifies a 13‐cellular morphometric biomarker (CMB) signature from routine H&E whole‐slide images. Validated across 2,602 patients, the fixed signature generalizes across colorectal, gastric, and esophageal tissues without retraining, stratifies prognosis and precancerous lesion risk ...
Pin Wang +14 more
wiley +1 more source
Genetic landscape of Chinese colorectal cancer: insights into germline and somatic mutations
BMC CancerBackground Germline pathogenic alleles predispose carriers to malignancies; failure to recognize the underlying cancer susceptibility and subsequent delayed diagnosis may lead to severe health impairment.
Fazhi Zhao +8 more
doaj +1 more source
Potential of Nanoparticle‐Based Phototherapies for Future Treatment of Uveal Melanoma
Advanced Science, EarlyView.This review evaluates nanoparticle‐based phototherapies for uveal melanoma, highlighting emerging strategies to enhance tumor targeting, light delivery, and treatment precision. Preclinical data indicate improved efficacy and reduced toxicity, supporting their potential to enhance localized treatment and future translational advances. (Generated by the
Emilie Lambert +8 more
wiley +1 more source
Advanced Science, EarlyView.Cryo‐electron microscopy structures reveal two distinct neutralization mechanisms of fully human monoclonal antibodies targeting the Shiga toxin 1a B subunit. RDS059 occludes the Gb3 receptor‐binding site, whereas RDS045 engages a lateral quaternary epitope to disrupt holotoxin assembly.
Jianting Ke +10 more
wiley +1 more source