Results 51 to 60 of about 5,996,346 (272)

Spatial and single‐nuclei transcriptomics reveals idiosyncratic and generic patterns in papillary and anaplastic thyroid cancers

open access: yesMolecular Oncology, EarlyView.
Matched spatial transcriptomics and single‐nuclei RNA‐seq were generated for anaplastic and BRAFV600E papillary thyroid cancers revealing generic and tumor‐specific states occurring in cancer cells and in the tumor microenvironment. In this context, cancer dedifferentiation mirrored organoid maturation through ordered thyroid marker gain/loss ...
Adrien Tourneur   +11 more
wiley   +1 more source

Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report

open access: yesMolecular Cytogenetics, 2022
Background Maternal non-Robertsonian translocation-t(20;22)(q13;q11.2) between chromosomes 20 and 22resulting in an additional complex small supernumerary marker chromosome as derivative (22)inherited to the proband is not been reported yet.
H. C. Manju   +5 more
doaj   +1 more source

Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2019
Objective: This study retrospectively evaluated the incidences of small supernumerary marker chromosomes (sSMCs) in prenatal diagnoses and detected with gain of pathogenic copy number variation through array comparative genomic hybridization (CGH) in a ...
Min-Hui Huang   +10 more
doaj   +1 more source

Characterization and Association of Marker Chromosomes with Male Infertility

open access: yesJournal of Men's Health, 2020
Background and objective A small supernumerary marker chromosome (sSMC) is a rare structurally abnormal chromosome in which no part can be identified by conventional cytogenetic banding technique.
Dong Suk Kim   +7 more
doaj   +1 more source

An update on small supernumerary marker chromosomes (sSMC)

open access: yesResearch Results in Biomedicine, 2019
Here we provide an update on the present knowledge on sSMC formation, shape, content and clinical ...
Liehr, T., Liehr, L. B.
openaire   +3 more sources

Supernumerary marker chromosome and global developmental delay: Role of microarray - case report and review of literature [PDF]

open access: yes, 1970
Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that cannot be identified or characterized by conventional karyotype analysis and are generally equal in size or smaller than chromosome 20.
Bachani, Sumitra   +2 more
core   +1 more source

Identification and characterisation of calcitonin receptor isoforms expressed in glioblastoma derived glioma stem and U‐87 MG cells

open access: yesFEBS Open Bio, EarlyView.
Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta   +7 more
wiley   +1 more source

Overcoming Artificial Structures in Resolution‐Enhanced Hi‐C Data by Signal Decomposition and Multi‐Scale Attention

open access: yesAdvanced Science, EarlyView.
Deep‐learning‐based signal enhancement is an effective way to recover high‐resolution details from a low‐resolution chromatin contact map. However, due to computational challenges, existing methods commonly divide up the contact map into small patches and create artificial discontinuities at patch boundaries.
Qinyao Li   +6 more
wiley   +1 more source

KLF5 Downregulation Links Impaired BNIP3‐Mediated Mitophagy to Inflammatory Valve Remodeling in Calcific Aortic Valve Disease

open access: yesAdvanced Science, EarlyView.
In human CAVD, KLF5 is reduced in VIC‐rich regions and remodeling/stress‐associated VIC states. In VICs, KLF5 sustains BNIP3 promoter activity and BNIP3‐mediated mitophagy, thereby limiting cytosolic mtDNA accumulation. KLF5 loss weakens mitochondrial quality control and enhances mtDNA‐sensitive STING/NF‐κB/NLRP3 inflammatory signaling under osteogenic
Jin‐Hui Bian   +13 more
wiley   +1 more source

Uhrf1‐Mediated PKM2 Degradation via Ubiquitination Alleviates Inflammation and Pyroptosis in Inflammatory Bowel Disease

open access: yesAdvanced Science, EarlyView.
Uhrf1‐mediated PKM2 ubiquitination and degradation repressed the nuclear translocation of PKM2, and EPT served as a molecular glue capable of targeting the Uhrf1–PKM2 complex to alleviate the IBD course, suggesting that the Uhrf1–PKM2 axis was a previously unrecognized strategy for treating IBD.
Juan Zhang   +9 more
wiley   +1 more source

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