scholarly journals Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients

2021 ◽  
Author(s):  
Sacha Laurent ◽  
Corinne Gehrig ◽  
Thierry Nouspikel ◽  
Sami S Amr ◽  
Andrea Oza ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Molecular Characterization ◽  
Gene Conversions

scholarly journals Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients

2020 ◽  
Author(s):  
Sacha Laurent ◽  
Corinne Gehrig ◽  
Thierry Nouspikel ◽  
Sami Amr ◽  
Andrea Oza ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Molecular Characterization ◽  
Gene Conversions

scholarly journals Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients

2021 ◽  
Author(s):  
Sacha Laurent ◽  
Corinne Gehrig ◽  
Thierry Nouspikel ◽  
Sami S Amr ◽  
Andrea Oza ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Allelic Loss ◽  
Loss Of Function ◽  
Chain Reactions ◽  
Polymerase Chain Reactions ◽  
Long Read ◽  
Gene Conversions

Bi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have been reported in the literature but never fully described nor their pathogenicity assessed. Here, we report two unrelated patients with moderate hearing-loss, who were compound heterozygotes for a converted allele and a deletion of OTOA. The conversions were initially detected through sequencing depths anomalies at the OTOA locus after exome sequencing, then confirmed with long range polymerase chain reactions. Both conversions lead to loss-of-function by introducing a premature stop codon in exon 22 (p.Glu787*). Using genomic alignments and long read nanopore sequencing, we found that the two probands carry stretches of converted DNA of widely different lengths (at least 9 kbp and around 900 bp, respectively).

1446: Molecular Characterization of Cyclooxygenase-2 in a Stimulated Prostate Stroma Cells

2006 ◽  
Vol 175 (4S) ◽  
pp. 467-467
Author(s):  
Victor K. Lin ◽  
Shih-Ya Wang ◽  
Claus G. Roehrbom
Keyword(s):  
Molecular Characterization ◽  
Cyclooxygenase 2 ◽  
Prostate Stroma

Molecular characterization of lincRNAs in Down syndrome associated leukemia

2012 ◽  
Vol 224 (03) ◽  
Author(s):  
A Streltsov ◽  
S Emmrich ◽  
F Engeland ◽  
JH Klusmann
Keyword(s):  
Down Syndrome ◽  
Molecular Characterization

Molecular Characterization of Radiation-induced Glioblastoma

2018 ◽  
Author(s):  
MY Deng ◽  
D Sturm ◽  
E Pfaff ◽  
GP Balasubrama ◽  
J Schittenhelm ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Radiation Induced

Clinical and molecular characterization of patients with multiple sulfatase deficiency

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
L Schlotawa ◽  
T Dierks ◽  
K von Figura ◽  
J Gärtner
Keyword(s):  
Molecular Characterization ◽  
Multiple Sulfatase Deficiency
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