Deep exploration of a CDKN1C mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay
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DOI: 10.1136/jmedgenet-2020-107401
Abstract: Background Loss-of-function mutations in CDKN1C cause overgrowth, that is, Beckwith-Wiedemann syndrome (BWS), while gain-of-function variants in the gene’s PCNA binding motif cause a growth-restricted condition called IMAGe syndrome. We report on a boy with a… read more here.
Keywords: developmental delay; image; cause; cdkn1c ... See more keywords
Analysis of CDKN1C in fetal growth restriction and pregnancy loss
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DOI: 10.12688/f1000research.15016.2
Abstract: Background: Cyclin-dependent kinase inhibitor 1C (CDKN1C) is a key negative regulator of cell growth encoded by a paternally imprinted/maternally expressed gene in humans. Loss-of-function variants in CDKN1C are associated with an overgrowth condition (Beckwith-Wiedemann Syndrome)… read more here.
Keywords: pregnancy; growth restriction; cdkn1c; growth ... See more keywords
LncRNA-BLACAT1 Facilitates Proliferation, Migration and Aerobic Glycolysis of Pancreatic Cancer Cells by Repressing CDKN1C via EZH2-Induced H3K27me3
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DOI: 10.3389/fonc.2020.539805
Abstract: Objective To investigate the role of lncRNA-BLACAT1 in promoting H3K27 trimethylation of CDKN1C gene by recruiting EZH2 to regulate CCNE on glycolysis and mitochondrial oxidative phosphorylation of pancreatic cancer (PC) cells. Methods Following bioinformatic prediction,… read more here.
Keywords: proliferation migration; glycolysis; blacat1; ezh2 ... See more keywords
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants
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DOI: 10.3390/cancers14153807
Abstract: Simple Summary Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder caused by imprinting or genetic alterations at the 11p15.5 locus. BWS is considered a spectrum disorder (BWSp) with an increased neoplasm incidence. CDKN1C variants have been… read more here.
Keywords: incidence; cdkn1c variants; wiedemann syndrome; beckwith wiedemann ... See more keywords
CDYL promotes the chemoresistance of small cell lung cancer by regulating H3K27 trimethylation at the CDKN1C promoter
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DOI: 10.7150/thno.33680
Abstract: Rationale: Chemoresistance frequently occurs in patients with small cell lung cancer (SCLC) and leads to a dismal prognosis. However, the mechanisms underlying this process remain largely unclear. Methods: The effects of chromodomain Y-like (CDYL) on… read more here.
Keywords: chemoresistance; sclc; cdkn1c; promotes chemoresistance ... See more keywords