Results 201 to 210 of about 21,316 (283)
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
This study characterizes the molecular subgroup–specific features of a nationwide Japanese cohort comprising 242 medulloblastomas (MBs). Furthermore, we introduce SEE‐6‐CNA, a simple, cost‐effective, and FFPE‐compatible molecular test that is applicable to routine pathology samples and serves as a surrogate for risk stratification in non‐WNT/non‐SHH ...
Kohichi Go +70 more
wiley +1 more source
Molecular identification of <i>Borrelia</i> and <i>Rickettsia</i> in hard ticks infesting domestic and wild animals in Cameroon. [PDF]
Paguem A +7 more
europepmc +1 more source
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
Insight into tick and flea species infesting the North African Hedgehog <i>Atelerix algirus</i> in Tunisia. [PDF]
Balti G +9 more
europepmc +1 more source
Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy
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
Antimicrobial Resistance in <i>Escherichia coli</i> from Hedgehogs (<i>Erinaceus europaeus</i>) Admitted to a Wildlife Rescue Center. [PDF]
Prandi I +8 more
europepmc +1 more source
Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia
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
Antimicrobial-Resistant <i>Staphylococcus</i> spp. Harbored by Hedgehogs (<i>Erinaceus europaeus</i>) in Central Italy. [PDF]
Bertelloni F +5 more
europepmc +1 more source

