FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3127193254> ?p ?o ?g. }

• W3127193254 abstract "Abstract Background Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss. Here, we investigate the genetic etiology of deafness in two GJB2 and GJB6 negative patients presenting with pre-lingual, progressive, severe hearing loss. Methods Targeted exome sequencing (TES) using Next Generation Illumina Sequencing was used to analyze the exonic and some other important genomic regions of 154 genes in the proband. Subsequently, the mutation found was confirmed by Sanger sequencing in other affected sibling and healthy family members. The possible impact of the reported mutation on the corresponding protein was also evaluated by using bioinformatics tools. Moreover, the affected patients underwent audiological and ophthalmic evaluations. Results TES identified a novel homozygous missense mutation c.251T>C (p.I84T) in exon 3 of PDZD7 gene. In addition, segregation and phenotype-genotype correlation analysis as well as in-silico evaluations confirmed the autosomal recessive inheritance pattern and disease-causing nature of mutation found. Conclusions In overall, our finding could expand the pathogenic mutations spectrum and strengthens the clinical importance of the PDZD7 gene in ARNSHL patients. It can also aid to conduct genetic counseling, prenatal diagnosis and clinical management of these types of genetic disorders." @default.
• W3127193254 created "2021-02-15" @default.
• W3127193254 creator A5006370933 @default.
• W3127193254 creator A5074132915 @default.
• W3127193254 creator A5075273556 @default.
• W3127193254 creator A5075484190 @default.
• W3127193254 date "2021-02-02" @default.
• W3127193254 modified "2023-09-26" @default.
• W3127193254 title "A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss" @default.
• W3127193254 cites W1984068087 @default.
• W3127193254 cites W1994857261 @default.
• W3127193254 cites W2011132587 @default.
• W3127193254 cites W2034223507 @default.
• W3127193254 cites W2042724988 @default.
• W3127193254 cites W2061148406 @default.
• W3127193254 cites W2061424770 @default.
• W3127193254 cites W2085651827 @default.
• W3127193254 cites W2092890929 @default.
• W3127193254 cites W2103441770 @default.
• W3127193254 cites W2119180969 @default.
• W3127193254 cites W2122806682 @default.
• W3127193254 cites W2133950415 @default.
• W3127193254 cites W2139424179 @default.
• W3127193254 cites W2147490023 @default.
• W3127193254 cites W2150532966 @default.
• W3127193254 cites W2155652989 @default.
• W3127193254 cites W2316496731 @default.
• W3127193254 cites W2586447962 @default.
• W3127193254 cites W2766722548 @default.
• W3127193254 cites W2795008433 @default.
• W3127193254 cites W2946055419 @default.
• W3127193254 cites W2969447868 @default.
• W3127193254 cites W2970793600 @default.
• W3127193254 cites W3080947367 @default.
• W3127193254 cites W4250786601 @default.
• W3127193254 doi "https://doi.org/10.1186/s12920-021-00884-4" @default.
• W3127193254 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7852090" @default.
• W3127193254 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33530996" @default.
• W3127193254 hasPublicationYear "2021" @default.
• W3127193254 type Work @default.
• W3127193254 sameAs 3127193254 @default.
• W3127193254 citedByCount "5" @default.
• W3127193254 countsByYear W31271932542022 @default.
• W3127193254 countsByYear W31271932542023 @default.
• W3127193254 crossrefType "journal-article" @default.
• W3127193254 hasAuthorship W3127193254A5006370933 @default.
• W3127193254 hasAuthorship W3127193254A5074132915 @default.
• W3127193254 hasAuthorship W3127193254A5075273556 @default.
• W3127193254 hasAuthorship W3127193254A5075484190 @default.
• W3127193254 hasBestOaLocation W31271932541 @default.
• W3127193254 hasConcept C104317684 @default.
• W3127193254 hasConcept C10590036 @default.
• W3127193254 hasConcept C127716648 @default.
• W3127193254 hasConcept C16671776 @default.
• W3127193254 hasConcept C188997412 @default.
• W3127193254 hasConcept C2780493683 @default.
• W3127193254 hasConcept C2780673598 @default.
• W3127193254 hasConcept C36823959 @default.
• W3127193254 hasConcept C501734568 @default.
• W3127193254 hasConcept C54355233 @default.
• W3127193254 hasConcept C548259974 @default.
• W3127193254 hasConcept C64618202 @default.
• W3127193254 hasConcept C71924100 @default.
• W3127193254 hasConcept C75563809 @default.
• W3127193254 hasConcept C76818968 @default.
• W3127193254 hasConcept C80227256 @default.
• W3127193254 hasConcept C86803240 @default.
• W3127193254 hasConceptScore W3127193254C104317684 @default.
• W3127193254 hasConceptScore W3127193254C10590036 @default.
• W3127193254 hasConceptScore W3127193254C127716648 @default.
• W3127193254 hasConceptScore W3127193254C16671776 @default.
• W3127193254 hasConceptScore W3127193254C188997412 @default.
• W3127193254 hasConceptScore W3127193254C2780493683 @default.
• W3127193254 hasConceptScore W3127193254C2780673598 @default.
• W3127193254 hasConceptScore W3127193254C36823959 @default.
• W3127193254 hasConceptScore W3127193254C501734568 @default.
• W3127193254 hasConceptScore W3127193254C54355233 @default.
• W3127193254 hasConceptScore W3127193254C548259974 @default.
• W3127193254 hasConceptScore W3127193254C64618202 @default.
• W3127193254 hasConceptScore W3127193254C71924100 @default.
• W3127193254 hasConceptScore W3127193254C75563809 @default.
• W3127193254 hasConceptScore W3127193254C76818968 @default.
• W3127193254 hasConceptScore W3127193254C80227256 @default.
• W3127193254 hasConceptScore W3127193254C86803240 @default.
• W3127193254 hasIssue "1" @default.
• W3127193254 hasLocation W31271932541 @default.
• W3127193254 hasLocation W31271932542 @default.
• W3127193254 hasLocation W31271932543 @default.
• W3127193254 hasLocation W31271932544 @default.
• W3127193254 hasLocation W31271932545 @default.
• W3127193254 hasOpenAccess W3127193254 @default.
• W3127193254 hasPrimaryLocation W31271932541 @default.
• W3127193254 hasRelatedWork W2198170080 @default.
• W3127193254 hasRelatedWork W2735588156 @default.
• W3127193254 hasRelatedWork W2756009492 @default.
• W3127193254 hasRelatedWork W2943960100 @default.
• W3127193254 hasRelatedWork W3127193254 @default.
• W3127193254 hasRelatedWork W3135805180 @default.
• W3127193254 hasRelatedWork W3157589997 @default.
• W3127193254 hasRelatedWork W3202833511 @default.

• next