Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313237435> ?p ?o ?g. }
- W4313237435 abstract "Abstract Background DNA‐directed RNA polymerase II subunit 3 (RPB3) is the third largest subunit of RNA polymerase II and is encoded by the POLR2C (OMIM:180663). A large Iranian family with congenital hearing loss and infertility is described here with genetic and clinical characterizations of five male patients. Methods After doing clinical examinations, the proband was subjected to karyotyping and GJB2/6 sequencing to rule out the most evident chromosomal and gene abnormalities for male infertility and hearing loss, respectively. A custom‐designed next‐generation sequencing panel was also used to detect mutations in deafness‐related genes. Finally, to reveal the underlying molecular cause(s) justifying hearing loss and male infertility, five male patients and 2 healthy male controls within the family were subjected to paired‐end whole‐exome sequencing (WES). Linkage analysis was also performed based on the data. Results All male patients showed prelingual sensorineural hearing loss and also decreased sperm motility. Linkage analysis determined 16q21 as the most susceptible locus in which a missense variant in exon 7 of POLR2C —NM_032940.3:c.545T>C;p.(Val182Ala)—was identified as a ‘likely pathogenic’ variant co‐segregated with phenotypes. Conclusions Using segregation and in silico analyses, for the first time, we suggested that the NM_032940.3:c.545T>C; p.(Val182Ala) in POLR2C is associated with hearing loss and male infertility." @default.
- W4313237435 created "2023-01-06" @default.
- W4313237435 creator A5008066592 @default.
- W4313237435 creator A5010844025 @default.
- W4313237435 creator A5048037002 @default.
- W4313237435 creator A5076293196 @default.
- W4313237435 creator A5081196296 @default.
- W4313237435 date "2023-01-10" @default.
- W4313237435 modified "2023-09-26" @default.
- W4313237435 title "A biallelic variant in <scp>POLR2C</scp> is associated with congenital hearing loss and male infertility: Case report" @default.
- W4313237435 cites W1559786883 @default.
- W4313237435 cites W1911817655 @default.
- W4313237435 cites W1970438376 @default.
- W4313237435 cites W1973448324 @default.
- W4313237435 cites W1981409633 @default.
- W4313237435 cites W1996857055 @default.
- W4313237435 cites W2004358642 @default.
- W4313237435 cites W2005143680 @default.
- W4313237435 cites W2007114922 @default.
- W4313237435 cites W2013005251 @default.
- W4313237435 cites W2014793949 @default.
- W4313237435 cites W2023561674 @default.
- W4313237435 cites W2024365856 @default.
- W4313237435 cites W2024405748 @default.
- W4313237435 cites W2044428190 @default.
- W4313237435 cites W2059600528 @default.
- W4313237435 cites W2067320201 @default.
- W4313237435 cites W2076357933 @default.
- W4313237435 cites W2078858985 @default.
- W4313237435 cites W2082667898 @default.
- W4313237435 cites W2090705041 @default.
- W4313237435 cites W2103441770 @default.
- W4313237435 cites W2103740237 @default.
- W4313237435 cites W2108234281 @default.
- W4313237435 cites W2108798389 @default.
- W4313237435 cites W2114709909 @default.
- W4313237435 cites W2117984182 @default.
- W4313237435 cites W2119180969 @default.
- W4313237435 cites W2121196786 @default.
- W4313237435 cites W2122732537 @default.
- W4313237435 cites W2123055542 @default.
- W4313237435 cites W2135878416 @default.
- W4313237435 cites W2136513422 @default.
- W4313237435 cites W2137886330 @default.
- W4313237435 cites W2143238378 @default.
- W4313237435 cites W2149641002 @default.
- W4313237435 cites W2150444353 @default.
- W4313237435 cites W2150653851 @default.
- W4313237435 cites W2155129316 @default.
- W4313237435 cites W2155201844 @default.
- W4313237435 cites W2162031192 @default.
- W4313237435 cites W2164251316 @default.
- W4313237435 cites W2174602966 @default.
- W4313237435 cites W2319718943 @default.
- W4313237435 cites W2345233971 @default.
- W4313237435 cites W2556390094 @default.
- W4313237435 cites W2580887223 @default.
- W4313237435 cites W2783337937 @default.
- W4313237435 cites W2787008074 @default.
- W4313237435 cites W2801491392 @default.
- W4313237435 cites W2804994040 @default.
- W4313237435 cites W2809000676 @default.
- W4313237435 cites W2915985519 @default.
- W4313237435 cites W2916675325 @default.
- W4313237435 cites W2949860192 @default.
- W4313237435 cites W2950001158 @default.
- W4313237435 cites W2954018630 @default.
- W4313237435 cites W2963172142 @default.
- W4313237435 cites W2963747872 @default.
- W4313237435 cites W2981668195 @default.
- W4313237435 cites W2997939993 @default.
- W4313237435 cites W3004374392 @default.
- W4313237435 cites W3022823009 @default.
- W4313237435 cites W3024295806 @default.
- W4313237435 cites W3042979270 @default.
- W4313237435 cites W3044155676 @default.
- W4313237435 cites W3046983292 @default.
- W4313237435 cites W3174499032 @default.
- W4313237435 cites W3196371547 @default.
- W4313237435 cites W4236111038 @default.
- W4313237435 cites W4247654104 @default.
- W4313237435 doi "https://doi.org/10.1111/eci.13946" @default.
- W4313237435 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36576366" @default.
- W4313237435 hasPublicationYear "2023" @default.
- W4313237435 type Work @default.
- W4313237435 citedByCount "1" @default.
- W4313237435 countsByYear W43132374352023 @default.
- W4313237435 crossrefType "journal-article" @default.
- W4313237435 hasAuthorship W4313237435A5008066592 @default.
- W4313237435 hasAuthorship W4313237435A5010844025 @default.
- W4313237435 hasAuthorship W4313237435A5048037002 @default.
- W4313237435 hasAuthorship W4313237435A5076293196 @default.
- W4313237435 hasAuthorship W4313237435A5081196296 @default.
- W4313237435 hasConcept C104317684 @default.
- W4313237435 hasConcept C127716648 @default.
- W4313237435 hasConcept C16671776 @default.
- W4313237435 hasConcept C188997412 @default.
- W4313237435 hasConcept C2777338322 @default.
- W4313237435 hasConcept C2777688143 @default.
- W4313237435 hasConcept C2779234561 @default.