المؤلفون: Natalia Bałdyga, Dominika Oziębło, Nina Gan, Mariusz Furmanek, Marcin L. Leja, Henryk Skarżyński, Monika Ołdak

المصدر: Genes; Volume 14; Issue 2; Pages: 335

مصطلحات موضوعية: hearing loss, inner ear malformation, enlarged vestibular aqueduct (EVA), incomplete partition type 2 (IP2), high-throughput sequencing, pathogenic variants

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14020335Test

الإتاحة: https://doi.org/10.3390/genes14020335Test

المؤلفون: A. M. Cherdonova, T. V. Borisova, V. G. Pshennikova, F. M. Teryutin, L. A. Klarov, A. A. Nikanorova, G. P. Romanov, A. V. Solovyev, S. A. Fedorova, N. A. Barashkov, А. М. Чердонова, Т. В. Борисова, В. Г. Пшенникова, Ф. М. Терютин, Л. А. Кларов, А. А. Никанорова, Г. П. Романов, А. В. Соловьев, С. А. Федорова, Н. А. Барашков

المساهمون: This work was supported by research work of the YSC CMP “Study of the genetic structure and burden of hereditary pathology in the populations of the Republic of Sakha (Yakutia)” and the Ministry of Science and Higher Education of the Russian Federation (FSRG-2023-0003)., Работа выполнена в рамках НИР ЯНЦ КМП «Изучение генетической структуры и груза наследственной патологии в популяциях Республики Саха (Якутия) и Государственного задания Министерства науки и высшего образования РФ (FSRG-2023-0003).

المصدر: Medical Genetics; Том 22, № 7 (2023); 51-60 ; Медицинская генетика; Том 22, № 7 (2023); 51-60 ; 2073-7998

مصطلحات موضوعية: Бурятия, inner ear anomalies, enlarged vestibular aqueduct (EVA), incomplete partition of the cochlea (IP-1 and IP-2), thyroid dysfunction, Pendred syndrome, SLC26A4 gene, CEVA haplotype, Buryatia, аномалии внутреннего уха, расширение водопровода преддверия (EVA), неполное разделение улитки (IP-1 и IP-2), нарушение тиреоидной функции, синдром Пендреда, ген SLC26A4, CEVA-гаплотип

وصف الملف: application/pdf

العلاقة: https://www.medgen-journal.ru/jour/article/view/2328/1729Test; Baldwin C.t., Weiss S., Farrer L.A., et al. Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population. Hum. Mol. Genet. 1995; 4: 1637–1642. https://doi.org/10.1093/hmg/4.9.1637Test.; Everett L.A., Glaser B., Beck J.C., et al. Pendred Syndrome Is Caused by Pathogenic variants in a Putative Sulphate transporter Gene (PDS). Nat. Genet. 1997; 17: 411–422. https://doi.org/10.1038/ng1297-411Test.; Abe S., Usami S., Hoover D.M., et al. Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene. Am. J. Med. Genet. 1999; 82: 322–328.; Li X.C., Everett L.A., Lalwani A.K., et al. A pathogenic variant in PDS causes non-syndromic recessive deafness. Nat. Genet. 1998; 18: 215–217. https://doi.org/10.1038/ng0398-215Test.; Usami S., Abe S., Weston M.D., et al. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS pathogenic variants. Hum. Genet. 1999; 104: 188–192. doi:10.1007/s004390050933.; Campbell C., Cucci R.A., Prasad S., et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel pathogenic variants and possible genotype-phenotype correlations. Hum. Mutat. 2001; 17: 403–411. https://doi.org/10.1002/humu.1116Test.; Valvassori G.E., Clemis J.D. the large vestibular aqueduct syndrome. Laryngoscope 1978; 88: 723–728. https://doi.org/10.1002/lary.1978.88.5.723Test.; Jackler R.K., Luxford W.M., House W.F. Congenital Malformations of the Inner Ear: A Classification Based on Embryogenesis. Laryngoscope 1987; 97: 2–14. https://doi.org/10.1002/lary.5540971301Test.; Sennaroglu L., Saatci I. A New Classification for Cochleovestibular Malformations. Laryngoscope 2002; 112: 2230–2241. https://doi.org/10.1097/00005537-200212000-00019Test.; Sennaroğlu L., Bajin M.D. Classification and Current Management of Inner Ear Malformations. Balkan Med. J. 2017; 34: 397–411. https://doi.org/10.4274/balkanmedj.2017.0367Test.; Pendred V. Deaf-mutism and goitre. The Lancet. 1896; 148: 532. https://doi.org/10.1016/S0140-6736Test(01)74403-0; Fraser G.R. Association of congenital deafness with goitre (pendred’s syndrome): a study of 207 families. Ann. Hum. Genet. 1965; 28: 201– 249. https://doi.org/10.1111/j.1469-1809.1964.tb00479.xTest; Royaux I.E., Suzuki K., Mori A., et al. Pendrin, the Protein Encoded by the Pendred Syndrome Gene (PDS), Is an Apical Porter of Iodide in the thyroid and Is Regulated by thyroglobulin in FRtL-5 Cells. Endocrinology. 2000; 141: 839–845. https://doi.org/10.1210/endo.141.2.7303Test.; Royaux I.E., Wall S.M., Karniski L.P., et al. Pendrin, Encoded by the Pendred Syndrome Gene, Resides in the Apical Region of Renal Intercalated Cells and Mediates Bicarbonate Secretion. Proc. Natl. Acad. Sci. USA 2001; 98: 4221–4226. https://doi.org/10.1073/pnas.071516798Test.; Scott D.A., Wang R., Kreman t.M., et al. the Pendred Syndrome Gene Encodes a Chloride-Iodide transport Protein. Nat. Genet. 1999; 21: 440–443. https://doi.org/10.1038/7783Test.; Scott D.A., Karniski L.P. Human Pendrin Expressed in Xenopus Laevis Oocytes Mediates Chloride/Formate Exchange. Am. J. Physiol. Cell Physiol. 2000; 278: 207–211. https://doi.org/10.1152/ajpcell.2000.278.1.C207Test.; Soleimani M. Molecular physiology of the renal chloride-formate exchanger. Curr. Opin. Nephrol. Hypertens. 2001; 10: 677–683. https://doi.org/10.1097/00041552-200109000-00020Test.; Pedemonte N., Caci E., Sondo E., et al. thiocyanate transport in resting and IL-4-stimulated human bronchial epithelial cells: role of pendrin and anion channels. J Immunol 2007; 178: 5144– 5153. https://doi.org/10.4049/jimmunol.178.8.5144Test; Dossena S., Bernardinelli E., Sharma A.K., et al. the Pendrin Polypeptide. In the Role of Pendrin in Health and Disease. Springer: Cham. 2017; 187–220. https://doi.org/10.1007/978-3-319-43287-8_11Test.; Циркин В.И., Трухина С.И., Трухин А.Н. Нейрофизиология: физиология сенсорных систем: учебник для вузов. Москва: Издательство Юрайт, 2020: 459 с.; Wangemann P. the role of pendrin in the development of the murine inner ear. Cell Physiol Biochem 2011; 28: 527–534. https://doi.org/10.1159/000335113Test; Griffith A.J., Wangemann P. Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models. Hear Res 2011; 281: 11– 17. https://doi.org/10.1016/j.heares.2011.05.009Test; Park H.-J., Shaukat S., Liu X.-Z., et al. Origins and Frequencies of SLC26A4 (PDS) Pathogenic variants in East and South Asians: Global Implications for the Epidemiology of Deafness. J. Med. Genet. 2003; 40: 242–248. https://doi.org/10.1136/jmg.40.4.242Test.; tsukamoto K., Suzuki H., Harada D. et al. Distribution and frequencies of PDS (SLC26A4) pathogenic variants in Pendred Syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: A unique spectrum of pathogenic variants in Japanese. Eur. J. Hum. Genet. 2003; 11: 916–922. https://doi.org/10.1038/sj.ejhg.5201073Test.; Blons H., Feldmann D., Duval V., et al. Screening of SLC26A4 (PDS) gene in Pendred’s syndrome: A large spectrum of pathogenic variants in France and phenotypic heterogeneity. Clin. Genet. 2004; 66: 333–340. https://doi.org/10.1111/j.1399-0004.2004.00296.xTest.; Hutchin t., Coy N.N., Conlon H., et al. Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK— Implications for genetic testing. Clin. Genet. 2005; 68: 506–512. doi:10.1111/j.1399-0004.2005.00539.x.; Pryor S.P., Demmler G.J., Madeo A.C., et al. Investigation of the Role of Congenital Cytomegalovirus Infection in the Etiology of Enlarged Vestibular Aqueducts. Arch. Otolaryngol. Head Neck Surg. 2005; 131: 388–392. https://doi.org/10.1001/archotol.131.5.388Test.; Albert S., Blons H., Jonard L., et al. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur. J. Hum. Genet. 2006; 14: 773–779. doi:10.1038/sj.ejhg.5201611.; Guo Y.F., Liu X.W., Guan J., et al. GJB2, SLC26A4 and mitochondrial DNA A1555G pathogenic variants in prelingual deafness in Northern Chinese subjects. Acta Otolaryngol. 2008; 128: 297–303. doi:10.1080/00016480701767382.; Pourová R., Janousek P., Jurovcík M., et al. Spectrum and frequency of SLC26A4 pathogenic variants among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). Ann. Hum. Genet. 2010; 74: 299–307. doi:10.1111/j.1469-1809.2010.00581.x.; Pang X., Chai Y., Chen P., et al. Mono-allelic pathogenic variants of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct. Int. J. Pediatr. Otorhinolaryngol. 2015; 79: 1351–1353. doi:10.1016/j.ijporl.2015.06.009.; Chai Y., Huang Z., tao Z., et al. Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. Am. J. Med. Genet. Part A 2013; 161: 2226–2233. doi:10.1002/ajmg.a.36068.; Miyagawa M., Nishio S.Y., Usami S. Deafness Gene Study Consortium. Pathogenic variant spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 pathogenic variants in the Japanese: A large cohort study. J. Hum. Genet. 2014; 5: 262– 268. https://doi.org/10.1038/jhg.2014.12Test.; Wu C.C., Yeh t.H., Chen P.J., et al. Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in taiwan, including a frequent founder mutation. Laryngoscope. 2005; 115: 1060-1064. doi:10.1097/01.MLG.0000163339.61909.D0.; tsukada K., Nishio S.Y., Hattori M., et al. Ethnic-specific spectrum of GJB2 and SLC26A4 pathogenic variants: their origin and a literature review. Ann. Otol. Rhinol. Laryngol. 2015; 124 (Suppl. 1): 61–76. https://doi.org/10.1177/0003489415575060Test.; Erdenechuluun J., Lin Y.-H., Ganbat K., et al. Unique spectra of deafness-associated pathogenic variants in Mongolians provide in-sights into the genetic relationships among Eurasian populations. PLoS ONE. 2018; 13: e0209797. doi:10.1371/journal.pone.0209797.; Xiang Y.B., tang S.H., Li H.Z., et al. Pathogenic variant analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China. Int. J. Pediatr. Otorhinolaryngol. 2019; 122: 185–190. doi:10.1016/j.ijporl.2019.04.024.; Koohiyan M. A systematic review of SLC26A4 pathogenic variants causing hearing loss in the Iranian population. Int. J. Pediatr. Otorhinolaryngol. 2019; 125: 1–5. doi:10.1016/j.ijporl.2019.06.012.; Han J.J., Nguyen P.D., Oh D.Y., et al. Elucidation of the unique pathogenic variant spectrum of severe hearing loss in a Vietnamese pediatric population. Sci. Rep. 2019; 9(1): 1604. doi:10.1038/s41598-018-38245-4.; Zhang M., Han Y., Zhang F., et al. Pathogenic variant spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China. Acta Otolaryngol. 2019; 139: 612–617. doi:10.1080/00016489.2019.1609699.; tian Y., Xu H., Liu D., et al. Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene. Mol. Genet. Genom. Med. 2021; 9 (8): e1734. doi:10.1002/mgg3.1734.; Roesch S., Rasp G., Sarikas A., et al. Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review. Audiol. Res. 2021; 11(3): 423-442. doi:10.3390/audiolres11030040.; Honda K., Griffith A.J. Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss. Hum. Genet. 2022; 141(3-4): 455-464. https://doi.org/10.1007/s00439-021-02311-1Test.; Yang t., Vidarsson H., Rodrigo-Blomqvist S., et al. transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J. Hum. Genet. 2007: 80: 1055–1063. https://doi.org/10.1086/518314Test.; Yang t., Gurrola J.G., Wu H., et al. Pathogenic variants of KCNJ10 together with pathogenic variants of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am. J. Hum. Genet. 2009; 84(5): 651–657. doi:10.1016/j.ajhg.2009.04.014.; Wu C.C., Lu Y.C., Chen P.J., et al. Phenotypic analyses and pathogenic variant screening of the SLC26A4 and FOXI1 genes in 101 taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome. Audiol. Neurootol. 2010; 15: 57–66. https://doi.org/10.1159/000231567Test.; Chen K., Wang X., Sun L., et al. Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation. Otolaryngol. Head Neck Surg. 2012; 146: 972–978. https://doi.org/10.1177/0194599812439670Test.; Pique L.M., Brennan M., Davidson C.J., et al. Pathogenic variant analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss. PeerJ 2014; 2: e384. https://doi.org/10.7717/peerj.384Test.; Landa P., Differ A.-M., Rajput K., et al. Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts. BMC Med Genet. 2013; 14: 85. https://doi.org/10.1186/1471-2350-14-85Test; Klarov L.A., Pshennikova V.G., Romanov G.P., et al. Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies. International Journal of Molecular Sciences. 2022; 23(23): 15372. https://doi.org/10.3390/ijms232315372Test; Danilchenko V.Y., Zytsar M.V., Maslova E.A., et al. Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: the Evidence for Its Common Or igin in Southern Siberia (Russia). Genes. 2023, 14: 928. https://doi.org/10.3390/genes14040928Test; Li M., Nishio S.-Y., Naruse C., et al. Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome. Nat. Commun. 2020; 11: 1343. https://doi.org/10.1038/s41467-020-15198-9Test; Pryor S.P., Madeo A.C., Reynolds J.C., et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet 2005; 42: 159–165. https://doi.org/10.1136/jmg.2004.024208Test; Azaiez H., Yang t., Prasad S., et al. Genotype-phenotype correlations for SLC26A4-related deafness. Hum Genet. 2007; 122: 451– 457. https://doi.org/10.1007/s00439-007-0415-2Test; Choi B.Y., Madeo A.C., King K.A., et al. Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. J Med Genet. 2009; 46: 856–861. https://doi.org/10.1136Test/ jmg.2009.067892; Chattaraj P., Munjal t., Honda K., et al. A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. J. Med. Genet. 2017; 10: 665–673. https://doi.org/10.1136/jmedgenet-2017-104721Test.; Reardon W., Coffey R., Chowdhury t., et al. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J. Med. Genet. 1999; 36: 595–598. https://doi.org/10.1136/jmg.36.8.595Test; Madeo A.C., Manichaikul A., Reynolds J.C., et al. Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. Arch. Otolaryngol. Head. Neck. Surg. 2009; 135: 670–676. https://doi.org/10.1001/archoto.2009.66Test; Ladsous M., Vlaeminck-Guillem V., Dumur V., et al. Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. Thyroid. 2014; 24: 639–648.https://doi.org/10.1089/thy.2013.0164Test; Soh L.M., Druce M., Grossman A.B., et al. Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome. Eur. J. Endocrinol. 2015; 172:217–226. https://doi.org/10.1530/eje-14-0679Test; Lee H.J., Jung J., Shin J.W., et al. Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. Clin. Genet. 2014; 86(3): 270–275. doi:10.1111/cge.12273.; Zhao J., Yuan Y., Huang S., et al. KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects. PLoS ONE 2014; 9(11): e108134. doi:10.1371/journal.pone.0108134.; Danilchenko V.Y., Zytsar M.V., Maslova E.A., et al. Different Rates of the SLC26A4-Related Hearing Loss in two Indigenous Peoples of Southern Siberia (Russia). Diagnostics 2021; 11: 2378. doi.org/10.3390/diagnostics11122378.; tesolin P., Fiorino S., Lenarduzzi S., et al. Pendred Syndrome, or Not Pendred Syndrome? that Is the Question. Genes. 2021; 12(10): 1569. https://doi.org/10.3390/genes12101569Test; Bałdyga N., Oziębło D., Gan N., et al. the Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation. Genes 2023; 14(2): 335. https://doi.org/10.3390/genes14020335Test; Smits J.J., de Bruijn S.E., Lanting C.P., et al. Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant. Hum. Genet. 2022; 141: 465–484. doi:10.1007/s00439-021-02336-6.; Chao J.R., Chattaraj P., Munjal t. et al. SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct. BMC Med Genet 2019; 20 (1): 118. https://doi.org/10.1186/s12881-019-0853-4Test; https://www.medgen-journal.ru/jour/article/view/2328Test

الإتاحة: https://doi.org/10.25557/2073-7998.2023.07.51-60Test
https://doi.org/10.1093/hmg/4.9.1637Test
https://doi.org/10.1038/ng1297-411Test
https://doi.org/10.1038/ng0398-215Test
https://doi.org/10.1007/s004390050933Test
https://doi.org/10.1002/humu.1116Test
https://doi.org/10.1002/lary.1978.88.5.723Test
https://doi.org/10.1002/lary.5540971301Test
https://doi.org/10.1097/00005537-200212000-00019Test
https://doi.org/10.4274/balkanmedj.2017.0367Test

المؤلفون: Leonid A. Klarov, Vera G. Pshennikova, Georgii P. Romanov, Aleksandra M. Cherdonova, Aisen V. Solovyev, Fedor M. Teryutin, Nikolay V. Luginov, Petr M. Kotlyarov, Nikolay A. Barashkov

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 23; Pages: 15372

مصطلحات موضوعية: SLC26A4, FOXI1, KCNJ10 genes, hearing loss, audiometric examination, computer tomography, inner ear anomalies, incomplete partition type 1 (IP-1), incomplete partition type 2 (IP-2), enlarged vestibular aqueduct (EVA), genotype-phenotype analysis, DFNB4, Pendred syndrome, Eastern Siberia, Russia

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms232315372Test

الإتاحة: https://doi.org/10.3390/ijms232315372Test

المؤلفون: Cangül, Hakan, Liao, Xiao-Hui, Schoenmakers, Erik, Kero, Jukka, Barone, Sharon, Srichomkwun, Panudda, Lwayama, Hideyuki, Serra, Eva G., Sağlam, Halil, Eren, Erdal, Tarım, Ömer, Nicholas, Adeline K., Zvetkova, Ilona, Anderson, Carl A., Frankl, Fiona E. Karet, Boelaert, Kristien, Ojaniemi, Marja, Jaaskelainen, Jarmo, Patyra, Konrad, Lof, Christoffer, Williams, E. Dillwyn, Consortium, Ukk, Soleimani, Manoocher, Barrett, Timothy, Maher, Eamonn R., Chatterjee, V. Krishna, Refetoff, Samuel, Schoenmakers, Nadia

مصطلحات موضوعية: Vestibular Aqueduct, Hearing Loss, Aqueduct EVA

وصف الملف: application/pdf

العلاقة: JCI Insight; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Cangül, H., Liao, X., Schoenmakers, E., Kero, J., Barone, S., Srichomkwun, P. . Schoenmakers, N. (2018). Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight, 3(20). https://dx.doi.org/10.1172/jci.insight.99631Test; https://dx.doi.org/10.1172/jci.insight.99631Test; https://hdl.handle.net/20.500.12511/1873Test; 20

الإتاحة: https://doi.org/20.500.12511/1873Test
https://doi.org/10.1172/jci.insight.99631Test
https://hdl.handle.net/20.500.12511/1873Test

المؤلفون: Dahmani, Malika, Talbi, Sonia, Ammar-Khodja, Fatima, Ouhab, Sofiane, Boudjenah, Farid, Djebbar, Merieme, Bonnet, Crystel, Petit, Christine

المساهمون: Université des Sciences et de la Technologie Houari Boumediene = University of Sciences and Technology Houari Boumediene Alger (USTHB), Établissement Public Hospitalier Bachir Mentouri, Service ORL Tizi Ouzou, Centre Hospitalier Universitaire Mohamed Nedir, Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et Physiologie de l'Audition, Institut Pasteur Paris (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), We are grateful to the family members for their participation in this study. The study was supported by National Veterinary School and the Algerian Ministry of Higher Education and Scientific research.

المصدر: ISSN: 0165-5876.

مصطلحات موضوعية: ATP6V1B1, Distal renal tubular acidosis (dRTA), Enlarged vestibular aqueduct (EVA), Sensorineural hearing loss (SNHL), MESH: Acidosis, Renal Tubular, MESH: Algeria, MESH: Child, Preschool, MESH: Exons, MESH: Female, MESH: Frameshift Mutation, MESH: Hearing Loss, Sensorineural, MESH: Homozygote, MESH: Humans, MESH: Infant, MESH: Introns, MESH: Male, MESH: Vacuolar Proton-Translocating ATPases, MESH: Vestibular Aqueduct, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31733597; pasteur-03219608; https://pasteur.hal.science/pasteur-03219608Test; PUBMED: 31733597

الإتاحة: https://doi.org/10.1016/j.ijporl.2019.109772Test
https://pasteur.hal.science/pasteur-03219608Test

المؤلفون: Crystel Bonnet, Sonia Talbi, Christine Petit, Fatima Ammar-Khodja, Merieme Djebbar, Farid Boudjenah, Malika Dahmani, Sofiane Ouhab

المساهمون: Université des Sciences et de la Technologie Houari Boumediene = University of Sciences and Technology Houari Boumediene [Alger] (USTHB), Établissement Public Hospitalier Bachir Mentouri, Service ORL [Tizi Ouzou], Centre Hospitalier Universitaire Mohamed Nedir, Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), We are grateful to the family members for their participation in this study. The study was supported by National Veterinary School and the Algerian Ministry of Higher Education and Scientific research., Université des Sciences et de la Technologie Houari Boumediene [Alger] (USTHB), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Chaire Génétique et physiologie cellulaire

المصدر: International Journal of Pediatric Otorhinolaryngology
International Journal of Pediatric Otorhinolaryngology, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩

مصطلحات موضوعية: Male, MESH: Acidosis, Renal Tubular, MESH: Introns, [SDV]Life Sciences [q-bio], Gene mutation, Gastroenterology, Renal tubular acidosis, Sensorineural hearing loss (SNHL), 0302 clinical medicine, Distal renal tubular acidosis, 030223 otorhinolaryngology, Frameshift Mutation, education.field_of_study, Enlarged vestibular aqueduct (EVA), MESH: Vestibular Aqueduct, Homozygote, MESH: Frameshift Mutation, General Medicine, Acidosis, Renal Tubular, Exons, MESH: Infant, 3. Good health, Child, Preschool, Sensorineural hearing loss, Female, MESH: Algeria, MESH: Homozygote, medicine.medical_specialty, Vacuolar Proton-Translocating ATPases, Distal renal tubular acidosis (dRTA), Hearing Loss, Sensorineural, Population, MESH: Vacuolar Proton-Translocating ATPases, Frameshift mutation, Vestibular Aqueduct, 03 medical and health sciences, 030225 pediatrics, Internal medicine, medicine, otorhinolaryngologic diseases, Humans, education, ATP6V1B1, MESH: Humans, business.industry, MESH: Child, Preschool, Infant, Metabolic acidosis, medicine.disease, Introns, MESH: Male, Otorhinolaryngology, MESH: Hearing Loss, Sensorineural, Algeria, Pediatrics, Perinatology and Child Health, business, MESH: Exons, MESH: Female, Enlarged vestibular aqueduct

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf21a41cd50ecbc1dd4742ae31040a43Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219608Test

المؤلفون: Zhao Jiandong, Yuan Yongyi, Chen Jing, Huang Shasha, Wang Guojian, Han Dongyi, Dai Pu

المصدر: Journal of Translational Medicine, Vol 10, Iss 1, p 82 (2012)

مصطلحات موضوعية: Enlarged vestibular aqueduct (EVA), MLPA, SLC26A4, Copy number variations (CNVs), Mutation, Medicine

العلاقة: http://www.translational-medicine.com/content/10/1/82Test; https://doaj.org/toc/1479-5876Test; https://doaj.org/article/01386c1c1ac64818810e53167b95e334Test

الإتاحة: https://doi.org/10.1186/1479-5876-10-82Test
https://doaj.org/article/01386c1c1ac64818810e53167b95e334Test

المؤلفون: Zhao, Jiandong, Yuan, Yongyi, Chen, Jing, Huang, Shasha, Wang, Guojian, Han, Dongyi, Dai, Pu

مصطلحات موضوعية: Enlarged vestibular aqueduct (EVA), MLPA, SLC26A4, Copy number variations (CNVs), Mutation

العلاقة: http://www.translational-medicine.com/content/10/1/82Test

الإتاحة: http://www.translational-medicine.com/content/10/1/82Test

المؤلفون: A C, Gonçalves, R, Santos, A, O'Neill, P, Escada, G, Fialho, H, Caria

المصدر: Acta Otorhinolaryngologica Italica

مصطلحات موضوعية: Enlarged vestibular aqueduct (EVA), Hearing Loss, Sensorineural, Genetic Variation, Membrane Transport Proteins, Berkeley Drosophila Genome Project (BDGP), Computerised tomography (CT), Hearing loss (HL), Middle Aged, Pendred syndrome (PS), Sulfate Transporters, Cases Series and Reports, Mutation, otorhinolaryngologic diseases, Humans, Female, sense organs, Magnetic resonance imaging (MRI), Goiter, Nodular, Videonystagmography (VNG)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::116cbb5f840987982dcb3637ba1e0a45Test
https://pubmed.ncbi.nlm.nih.gov/27214836Test

المؤلفون: Youssif, Mostafa A.

المصدر: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337288625Test.

مصطلحات موضوعية: Audiology, Enlarged vestibular aqueduct (EVA), vestibular evoked myogenic potential (VEMP), pediatric vestibular, vestibular

العلاقة: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337288625Test

الإتاحة: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337288625Test