Work

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family.

Year: 2019

Type: article

Study design: Observational Study

Abstract: Purpose: ) at 1p36.33. Methods: gene was performed in affected and healthy individuals. Bioinformatic analysis of the linkage regions including the candidate gene was performed. Results: , and several miRNA and transcription factors binding sites were predicted in the proximity of the mutation. ENCODE DNase I hypersensitivity and histone methylation and acetylation data suggest the genomic region may have regulatory functions. Conclusions: is causative for the CCV phenotype.

Source: Europe PMC (PubMed Central)

Authors: Hans Eiberg, Annemette F Mikkelsen, Mads Bak, Niels Tommerup, Allan M Lund, Anne Wenzel, Radhakrishnan Sabarinathan, Jan Gorodkin, Claus H Bang-Berthelsen, Lars Hansen

Institutions: University of Copenhagen, Copenhagen University Hospital, Rigshospitalet, Technical University of Denmark

Language: English

Topic: Cancer-related molecular mechanisms research

Subfield: Cancer Research

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Sundhed og Sygdom, Det Frie Forskningsråd, Innovationsfonden, National Research Foundation, Danmarks Grundforskningsfond, Danish Eye Research Foundation, Medical Research Council

Awards: G1766184556, G1954868685

OpenAlex ID: W2914653808

FWCI: 0.151

Cites: 55

Cited by: 5

Related to: 10