Journal: International Journal of Molecular Sciences

Article Title: Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel

doi: 10.3390/ijms232415748

Figure Lengend Snippet: Pathogenicity of the novel variants: a—designations are given in accordance with the ACMG recommendations for the interpretation and classification of nucleotide sequence variants [ 17 , 18 ]. b—variants identified in the same patients are presented in the articles by Markova et al. and Lalayants et al. [ 14 , 15 , 16 ].

Article Snippet: Analysis of gross deletions and duplications in the STRC , USH2A , SLC26A4 , and OTOA genes was conducted via the MLPA ® method (MRC-Holland, the Netherlands) using SALSA MLPA P461–A1 ( STRC and OTOA ), P361–A2, P362–A2 ( USH2A ), and P280–B3 ( SLC26A4 ) kits following the manufacturer’s protocol.

Techniques: Sequencing, Variant Assay

Journal: International Journal of Molecular Sciences

Article Title: Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel

doi: 10.3390/ijms232415748

Figure Lengend Snippet: The number of probands with NSHL with each of the identified genes of hearing loss among patients with an established molecular genetic diagnosis (n = 48). *—The comparison was made between the proportions in our cohort of Russian patients and the multi-ethnic sample of patients from Europe, America, and Asia from the study conducted by Sloan-Heggen et al. [ 10 ]. (95% CI)—confidence interval with the 95% confidence level.

Article Snippet: Analysis of gross deletions and duplications in the STRC , USH2A , SLC26A4 , and OTOA genes was conducted via the MLPA ® method (MRC-Holland, the Netherlands) using SALSA MLPA P461–A1 ( STRC and OTOA ), P361–A2, P362–A2 ( USH2A ), and P280–B3 ( SLC26A4 ) kits following the manufacturer’s protocol.

Techniques:

Journal: International Journal of Molecular Sciences

Article Title: Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel

doi: 10.3390/ijms232415748

Figure Lengend Snippet: The genes included in the MPS panel and their reference sequences.

Article Snippet: Analysis of gross deletions and duplications in the STRC , USH2A , SLC26A4 , and OTOA genes was conducted via the MLPA ® method (MRC-Holland, the Netherlands) using SALSA MLPA P461–A1 ( STRC and OTOA ), P361–A2, P362–A2 ( USH2A ), and P280–B3 ( SLC26A4 ) kits following the manufacturer’s protocol.

Techniques:

Journal: Genes

Article Title: Pendred Syndrome, or Not Pendred Syndrome? That Is the Question

doi: 10.3390/genes12101569

Figure Lengend Snippet: Membrane topology prediction for the protein expressed by SLC26A4 (pendrin) according to TOPCONS . Boxes refer to the transmembrane (TM) region (in vs. out, grey; out vs. in, white); red lines refer to intracellular regions; blue lines refer to extracellular regions. X-axis refers to the position within protein sequence. Reliability estimate of the predictions is reported in the Y-axis.

Article Snippet: The SALSA ® MLPA ® probe mixes P280-100R SLC26A4 (MRC-Holland, Amsterdam, the Netherlands) was employed, according to the manufacturer’s protocol.

Techniques: Sequencing

Journal: Genes

Article Title: Pendred Syndrome, or Not Pendred Syndrome? That Is the Question

doi: 10.3390/genes12101569

Figure Lengend Snippet: Audiograms of the carriers of SLC26A4 mutations. Audiometric features, displayed as audiograms, of the ten patients resulted in being carriers of SLC26A4 homozygous or heterozygous mutations. The hearing threshold levels are reported as the mean value between the right and the left ear.

Article Snippet: The SALSA ® MLPA ® probe mixes P280-100R SLC26A4 (MRC-Holland, Amsterdam, the Netherlands) was employed, according to the manufacturer’s protocol.

Techniques:

Journal: Genes

Article Title: Pendred Syndrome, or Not Pendred Syndrome? That Is the Question

doi: 10.3390/genes12101569

Figure Lengend Snippet: SLC26A4 gene variants identified in the selected cohort of suspected PDS patients.

Article Snippet: The SALSA ® MLPA ® probe mixes P280-100R SLC26A4 (MRC-Holland, Amsterdam, the Netherlands) was employed, according to the manufacturer’s protocol.

Techniques: Mutagenesis

Journal: Genes

Article Title: Pendred Syndrome, or Not Pendred Syndrome? That Is the Question

doi: 10.3390/genes12101569

Figure Lengend Snippet: Structural model of the human pendrin monomer as predicted by Alphafold . Protein backbone is represented by cyan cartoons and residues target of missense mutations identified in this study are represented by red sticks and labeled. The red arrows indicate the variants that were detected in homozygosis in the cohort. ( A ) View in a direction crossing the cell membrane. The membrane bilayer is represented by shaded thick gray lines. The cytoplasmic side of the protein is in the upper part while the extracellular portion is in the lower part. ( B ) View of the transmembrane region as seen from the top of the view in ( A ). Protein domains not belonging to the transmembrane region have been omitted for clarity.

Article Snippet: The SALSA ® MLPA ® probe mixes P280-100R SLC26A4 (MRC-Holland, Amsterdam, the Netherlands) was employed, according to the manufacturer’s protocol.

Techniques: Labeling