Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations
J Chouchen, M Mahfood, M Alobathani… - International Journal of …, 2021 - Elsevier
… However, we noticed that both mutations are located within helical domains that have a
constant length (21 amino acids) in the pendrin protein. So, we deduced that the size of the …
constant length (21 amino acids) in the pendrin protein. So, we deduced that the size of the …
Genomic analysis of inherited hearing loss in the Palestinian population
A Abu Rayyan, L Kamal, S Casadei… - Proceedings of the …, 2020 - National Acad Sciences
… Based on molecular and functional characterization of isoform-specific mouse models of the
… aqueduct characteristic of Pendred syndrome. Mutations with transcriptional effects were …
… aqueduct characteristic of Pendred syndrome. Mutations with transcriptional effects were …
[HTML][HTML] Molecular Features of SLC26A4 Common Variant p. L117F
A Matulevičius, E Bernardinelli, Z Brownstein… - Journal of Clinical …, 2022 - mdpi.com
… Testing of the function of pendrin variants found in deaf … for the East Asian population founder
mutation p.H723R, as well … pendrin-linked hearing loss, we characterized the ion transport …
mutation p.H723R, as well … pendrin-linked hearing loss, we characterized the ion transport …
[PDF][PDF] Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1
I Aviv - academia.edu
… Similarly, a missense mutation in GATA3 was present in a … Mutations of the PDS gene,
encoding pendrin, are associated … iodide efflux: implications for thyroid dysfunction in Pendred …
encoding pendrin, are associated … iodide efflux: implications for thyroid dysfunction in Pendred …
[HTML][HTML] Genetic epidemiology of hearing loss in the 22 Arab countries: a systematic review
… Consistent with our findings (Table 1), consanguinity was found to … Map representing the
spectrum of mutated genes in Arab … , Palestine, and Tunisia in patients with Pendred syndrome …
spectrum of mutated genes in Arab … , Palestine, and Tunisia in patients with Pendred syndrome …
NONSYNDROMIC HEARING LOSS IN QATAR: THE GENETIC BASIS AND THE DIAGNOSTIC YIELD OF GENETIC TESTING
SD ALKHIDIR - 2022 - qspace.qu.edu.qa
… in SLC26A4 gene cause AR NSHL and Pendred syndrome (86), … clinical significance of the
VUSs detected in our study cohort. … of PDS (SLC26A4) mutations in Pendred syndrome and …
VUSs detected in our study cohort. … of PDS (SLC26A4) mutations in Pendred syndrome and …
[HTML][HTML] Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies
… of the effect of rare founder mutations 7,9 . The present study was performed with the aim
of characterizing genetically a cohort of 17 consanguineous Iranian families with IRDs. …
of characterizing genetically a cohort of 17 consanguineous Iranian families with IRDs. …
[图书][B] Discovery and Characterization of Genes Responsible for Inherited Hearing Loss
RJ Carlson - 2022 - search.proquest.com
… participantks audiologic care, I present informative audioprofiles for over 40 … functional
characterization. In Chapter , I outline my efforts to identify and characterize two novel mutations …
characterization. In Chapter , I outline my efforts to identify and characterize two novel mutations …
Characterization of the Fine-Scale Genetic Structure of the Turkish Population
ME Kars - 2022 - search.proquest.com
… LoF whereas dominant mutations lead to a gain of function [11]. 1.2.3 Population frequency
of … , there have been many underrepresented populations in the available databases. Thus, …
of … , there have been many underrepresented populations in the available databases. Thus, …
[HTML][HTML] Global distribution of founder variants associated with non-syndromic hearing impairment
ET Aboagye, SM Adadey, E Wonkam-Tingang… - Genes, 2023 - mdpi.com
… and population distributions of variants were further checked by querying available population-
and … The loss of function (LoF) mutation has been suggested as the main pathological …
and … The loss of function (LoF) mutation has been suggested as the main pathological …