Results 131 to 140 of about 234,487 (302)
Advanced Science, EarlyView.The IgLec gene family generates both protein‐coding antiviral effectors and non‐coding transcripts. Upon viral infection, non‐coding transcripts are preferentially targeted by viral miR‐N48, thereby buffering protein‐coding isoforms from repression. Depletion of these decoy transcripts compromises antiviral defense, revealing a non‐coding RNA‐mediated ...
Ying Huang +5 more
wiley +1 more source
Frontiers in GeneticsDilated cardiomyopathy (DCM) is a heart condition that causes enlarged and weakened left ventricles and affects the heart’s ability to pump blood effectively. Most genetic etiology still needs to be understood. Previously, we have used the known germline
Ling Fei, Jun Zhang, Degen Zhuo
doaj +1 more source
, 1995 Objective. To investigate the origins of antiphospholipid antibodies associated with thrombosis and other disorders that are found in patients with systemic lupus erythematosus and primary antiphospholipid syndrome (APS). Methods.
Thompson, K. +6 more
core +1 more source
Advanced Science, EarlyView.DUET‐seq is an open‐source droplet platform that jointly profiles chromatin accessibility and gene expression from the same nucleus. Dissolvable dual‐linker hydrogel beads and a one‐step intra‐droplet RT‐PCR co‐index both modalities in under 12 h at roughly $0.04 per cell.
Dong Cheng +16 more
wiley +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim +12 more
wiley +1 more source
Hepatology, EarlyView., 2022 Phase 1b study of anlotinib combined with TQB2450 in pretreated advanced biliary tract cancer and biomarker analysis. Abstract Background and Aims We evaluated the efficacy and safety of the antiangiogenic tyrosine kinase inhibitor anlotinib plus TQB2450, a programmed death‐ligand 1 inhibitor in pretreated advanced biliary tract cancers (BTCs ...
Jun Zhou +13 more
wiley +1 more source
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen +8 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
Germline-aware deep learning models and benchmarks for predicting antibody VH–VL pairing
mAbsVariable heavy (VH) and variable light (VL) chain pairing is a critical determinant of antibody diversity, stability, and antigen-binding specificity. Identifying productive VH – VL combinations experimentally is labor-intensive and costly, motivating ...
Sara Joubbi +4 more
doaj +1 more source