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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
TLDR
The distinct RPE abnormalities observed in RP12 patients suggest that CRB1 mutations trigger a novel mechanism of photoreceptor degeneration, and a role forCRB1 in cell-cell interaction and possibly in the maintenance of cell polarity in the retina is suggested.
View on Springer
Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells
TLDR
In a BWS-discordant MZ triplet, an intermediate level of demethylation was found in one of the non-affected sibs; this finding supports the theory that a methylation error proceeds and possibly triggers the twinning process.
View on Nature
Maintenance of vascular endothelial cell-specific properties after immortalization with an amphotrophic replication-deficient retrovirus containing human papilloma virus 16 E6/E7 DNA.
TLDR
The regulation of extracellular proteolytic activity by EC-RF24 was established by measuring both the induction of functional tissue factor (promotion of Factor Xa generation) and the functional deposition of plasminogen activator inhibitor 1 in the subendothelial matrix (SDS-resistant complex formation with thrombin).
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Mutational analysis of the human nucleotide excision repair gene ERCC1.
TLDR
It is found that free ERCC1 is very rapidly degraded, suggesting that protein-protein interactions provide stability and provides an explanation for the phenotype of the human repair syndrome xeroderma pigmentosum group F.
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Allelic loss of chromosome 1p as a predictor of unfavorable outcome in patients with neuroblastoma.
TLDR
The loss of chromosome 1p is a strong prognostic factor in patients with neuroblastoma, independently of age and stage, and reliably identifies patients at high risk in stages I, II, and IVS, which are otherwise clinically favorable.
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Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
TLDR
All four familial cases of BWS showed reduced methylation of KCNQ1OT1, suggesting that in these cases the imprinting switch mechanism is disturbed.
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Disruption of a novel imprinted zinc-finger gene, ZNF215, in Beckwith-Wiedemann syndrome.
TLDR
The cloning and sequence analysis of 73 kb containing BWSCR2 detected a novel zinc-finger gene, ZNF215, which is imprinted in a tissue-specific manner and shows that two of its five alternatively spliced transcripts are disrupted by both BW SCR2 breakpoints.
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Molecular cloning of a human DNA repair gene
TLDR
The molecular cloning of a human repair gene (ERCC1) that complements the repair defect in a Chinese hamster ovary (CHO) mutant cell line is reported.
View on Nature
Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10
View on Elsevier
Retinitis pigmentosa: defined from a molecular point of view.
View on PubMed
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