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Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss
Title Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss Author Nayak Gowri Co-authors Varga Lukáš 1982- SAVEXEND - Ústav experimentálnej endokrinológie SAV Trincot Claire Shahzad Mohsin Friedman Penelope L. Klimeš Iwar SAVEXEND - Ústav experimentálnej endokrinológie SAV Greinwald John H. Riazuddin S. Amer Mašindová Ivica 1983 SAVEXEND - Ústav experimentálnej endokrinológie SAV Profant Milan Khan Shaheen N. Friedman Thomas B. Ahmed Zubair M. Gašperíková Daniela SAVEXEND - Ústav experimentálnej endokrinológie SAV RID ORCID Riazuddin Sheikh Riazuddin Saima Source document Human Genetics. Vol. 134, no. 4 (2015), p. 423-437 Language eng - English Document kind rozpis článkov z periodík (rbx) Citations ATIK, Tahir - ONAY, Huseyin - AYKUT, Ayca - BADEMCI, Guney - KIRAZLI, Tayfun - TEKIN, Mustafa - OZKINAY, Ferda. Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss. In PLOS ONE. ISSN 1932-6203, 2015, vol. 10, no. 11. PATER, Justin A. - BENTEAU, Tammy - GRIFFIN, Anne - PENNEY, Cindy - STANTON, Susan G. - PREDHAM, Sarah - KIELLEY, Bernadine - SQUIRES, Jessica - ZHOU, Jiayi - LI, Quan - ABDELFATAH, Nelly - O'RIELLY, Darren D. - YOUNG, Terry-Lynn. A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect. In HUMAN GENETICS. ISSN 0340-6717, 2017, vol. 136, no. 1, pp. 107-118. MATSUBARA, Ai - MIYASHITA, Takenori - INAMOTO, Ryuhei - SAKAGUCHI, Hirofumi - KAMITANI, Toru - MORI, Nozomu - HOSHIKAWA, Hiroshi. Tricellulin Expression and its Deletion Effects in the Endolymphatic Sac. In JOURNAL OF INTERNATIONAL ADVANCED OTOLOGY. ISSN 1308-7649, 2018, vol. 14, no. 2, pp. 312-316. TAGHIPOUR-SHESHDEH, Afsaneh - NEMATI-ZARGARAN, Fatemeh - ZAREPOUR, Narges - TAHMASEBI, Parisa - SAKI, Nader - TABATABAIEFAR, Mohammad Amin - MOHAMMADI-ASL, Javad - HASHEMZADEH-CHALESHTORI, Morteza. A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. In GENOMICS. ISSN 0888-7543, 2019, vol. 111, no. 4, pp. 840-848. ZHENG, Jing - MENG, Wen-fang - ZHANG, Chao-fan - LIU, Han-qing - YAO, Juan - WANG, Hui - CHEN, Ye - GUAN, Min-xin. New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population. In JOURNAL OF ZHEJIANG UNIVERSITY-SCIENCE B. ISSN 1673-1581, 2019, vol. 20, no. 2, pp. 164-169. HEMPSTOCK, Wendy - SUGIOKA, Shiori - ISHIZUKA, Noriko - SUGAWARA, Taichi - FURUSE, Mikio - HAYASHI, Hisayoshi. Angulin-2/ILDR1, a tricellular tight junction protein, does not affect water transport in the mouse large intestine. In SCIENTIFIC REPORTS. ISSN 2045-2322, 2020, vol. 10, no. 1, pp. SADEGHI, Zahra - PARISA, Seyedeh - TARZJANI, Chavoshi - MOOSAVI, Reyhaneh Sadat Miri - SABER, Siamak - EBRAHIMI, Ahmad. A Rare Mutation in the MARVELD2 Gene Can Cause Nonsyndromic Hearing Loss. In INTERNATIONAL MEDICAL CASE REPORTS JOURNAL. ISSN 1179-142X, 2020, vol. 13, no., pp. 291-296. SUGAWARA, T. - FURUSE, K. - OTANI, T. - WAKAYAMA, T. - FURUSE, M. Angulin-1 seals tricellular contacts independently of tricellulin and claudins. In JOURNAL OF CELL BIOLOGY. ISSN 0021-9525, SEP 6 2021, vol. 220, no. 9. Dostupné na: https://doi.org/10.1083/jcb.202005062. VAN HEURCK, R. - CARMINHO-RODRIGUES, M.T. - RANZA, E. - STAFUZZA, C. - QUTEINEH, L. - GEHRIG, C. - HAMMAR, E. - GUIPPONI, M. - ABRAMOWICZ, M. - SENN, P. - GUINAND, N. - CAO-VAN, H. - PAOLONI-GIACOBINO, A. Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss. In GENES. AUG 2021, vol. 12, no. 8. Dostupné na: https://doi.org/10.3390/genes12081277. NAZ, S. Molecular genetic landscape of hereditary hearing loss in Pakistan. In HUMAN GENETICS. ISSN 0340-6717, APR 2022, vol. 141, no. 3-4, SI, p. 633-648. Dostupné na: https://doi.org/10.1007/s00439-021-02320-0. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2015 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1007/s00439-015-1532-y 
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rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2015 2014 4.824 Q1 2.743 Q1
Number of the records: 1