Results 141 to 150 of about 5,996,346 (272)
Small supernumerary marker chromosomes (sSMC) are a morphological heterogeneous group of additional abnormal chromosomes that cannot be characterized alone by conventional banding cytogenetics.
Melo, Joana Barbosa +19 more
core +1 more source
Resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other CNS embryonal tumors are provided. Abstract WHO CNS5 mandates integrated histo‐molecular classification of medulloblastomas (MBs) and other CNS embryonal tumors. However, advanced molecular diagnostics remain inaccessible in many low‐ and lower‐middle‐
Chitra Sarkar +12 more
wiley +1 more source
Mosaic Ring-like Small Supernumerary Marker Chromosome and Gene Mutation in a Male With Intermittent Azoospermia: A Rare Case Report. [PDF]
Zhang J +6 more
europepmc +1 more source
In this study including 31 circumscribed meningeal melanocytic neoplasms (melanocytoma, intermediate‐grade melanocytic tumor [IMT], and melanoma), overall survival (OS) differed significantly among the groups, with melanoma showing significantly worse OS than melanocytoma and IMT showing intermediate OS between melanocytoma and melanoma.
Yi Zhu +12 more
wiley +1 more source
Comparison of extracellular vesicles with parental cells through proteomic profiling, followed by an integrated bioinformatic pipeline including disease association and transcriptomic analyses, identifies candidate biomarkers for multiple myeloma. Among these, MIF emerges as a clinically relevant marker, supported by validation in patient samples and ...
Natalia Platonova +13 more
wiley +1 more source
Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome
ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle +9 more
wiley +1 more source
Ploidy‐Dependent Response to Anticancer Drugs of Human Embryonic Stem Cells
Using isogenic hESCs, differing only in their ploidy level, we show the effect of ploidy on the resistance to anticancer drugs. We demonstrate that polyploidy, by itself, confers sensitivity to chemotherapies, leading to higher apoptosis and delayed proliferation, while the loss of p53 reverses the phenotype, demonstrating higher resistance.
Guy Haim‐Abadi, Nissim Benvenisty
wiley +1 more source
The eukaryote‐specific N‐terminal domain (NTD) of eS31 uses two distinct strategies to maintain translation fidelity. During elongation, a positively charged “hotspot” fine‐tunes the selection of incoming aa‐tRNA. During termination, the entire NTD acts as a structural scaffold to ensure the correct positioning of the release factor eRF1.
Qingxuan Gao +3 more
wiley +1 more source
Long‐read sequencing‐based atlas of tissue‐specific expression of DNM1L transcript variants
Targeted long‐read sequencing resolves full‐length DNM1L (Drp1) isoforms and reveals conserved, tissue‐specific expression patterns across human and mouse tissues. Functional assays show that Drp1 isoforms differ in their ability to drive mitochondrial fission, independent of abundance, with specific exons modulating activity.
Feng Yan +19 more
wiley +1 more source
The sorting nexin Snx21 promotes flotillin‐mediated endocytosis
In this study, we describe a novel function of the previously uncharacterized Snx21 protein as a specific positive regulator of flotillin‐mediated endocytic trafficking. Snx21 is recruited to endosomal membranes via binding to PI(3)P, and it colocalizes with flotillins on the surface of late endosomes.
Tamás Maruzs +9 more
wiley +1 more source

