Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Sign Up to like & getrecommendations! Published in 2018 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2017.12.001
Abstract: Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for… read more here.
Keywords: phenotype; genotype phenotype; phenotype correlation; mutations affecting ... See more keywords
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/srep39652
Abstract: Retinitis pigmentosa is the most frequent group of inherited retinal dystrophies. It is highly heterogeneous, with more than 80 disease-causing genes 27 of which are known to cause autosomal dominant RP (adRP), having been identified.… read more here.
Keywords: mutations affecting; retinitis pigmentosa; splicing process; autosomal dominant ... See more keywords
GNAS gene mutations affecting XLαs and bone health: A long neglected relationship.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14378
Abstract: The GNAS locus is an imprinted site. The α-subunit of the stimulatory G protein (Gsα) and extralarge variant (XLαs) are the two important products of the GNAS locus. The abnormal expression of Gsα is associated… read more here.
Keywords: relationship; bone; gene mutations; mutations affecting ... See more keywords
Mutations Affecting Splicing and Epigenetics Promote Leukemogenesis.
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DOI: 10.1158/2159-8290.cd-rw2019-156
Abstract: IDH2 mutations, causing DNA hypermethylation, cooperate with splicing-factor mutations in leukemia. read more here.
Keywords: affecting splicing; splicing epigenetics; promote leukemogenesis; epigenetics promote ... See more keywords
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct
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DOI: 10.1186/s12881-019-0853-4
Abstract: BackgroundRecessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead to multinodular… read more here.
Keywords: regions splice; splice sites; mutations affecting; coding regions ... See more keywords
Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes
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DOI: 10.3390/biom13040615
Abstract: Lowe Syndrome (LS) is a condition due to mutations in the OCRL1 gene, characterized by congenital cataracts, intellectual disability, and kidney malfunction. Unfortunately, patients succumb to renal failure after adolescence. This study is centered in… read more here.
Keywords: mutations affecting; domain; lowe syndrome; phosphatase domain ... See more keywords