| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Xinyu Shi, Xiaozhou Liu, Yanjun Zong, Zhengdong Zhao, Yu Su. Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families. Molecular genetics & genomic medicine. vol 12. issue 8. 2024-07-30. PMID:39078259. |
novel compound heterozygous variants in marveld2 causing autosomal recessive hearing loss in two chinese families. |
2024-07-30 |
2024-08-02 |
Not clear |
| Xinyu Shi, Xiaozhou Liu, Yanjun Zong, Zhengdong Zhao, Yu Su. Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families. Molecular genetics & genomic medicine. vol 12. issue 8. 2024-07-30. PMID:39078259. |
marveld2 (omim id:610572), located in the dfnb49 locus, which encodes a tight junction protein tricellulin playing an important role in the sensory epithelial barrier of the inner ear, may contribute to nonsyndromic autosomal recessive hereditary hearing loss. |
2024-07-30 |
2024-08-02 |
Not clear |
| Afsaneh Taghipour-Sheshdeh, Fatemeh Nemati-Zargaran, Narges Zarepour, Parisa Tahmasebi, Nader Saki, Mohammad Amin Tabatabaiefar, Javad Mohammadi-Asl, Morteza Hashemzadeh-Chaleshtor. A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. Genomics. vol 111. issue 4. 2019-12-30. PMID:29752989. |
a novel pathogenic variant in the marveld2 gene causes autosomal recessive non-syndromic hearing loss in an iranian family. |
2019-12-30 |
2023-08-13 |
human |
| Jing Zheng, Wen-Fang Meng, Chao-Fan Zhang, Han-Qing Liu, Juan Yao, Hui Wang, Ye Chen, Min-Xin Gua. New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population. Journal of Zhejiang University. Science. B. vol 20. issue 2. 2019-05-13. PMID:30406641. |
new snp variants of marveld2 (dfnb49) associated with non-syndromic hearing loss in chinese population. |
2019-05-13 |
2023-08-13 |
Not clear |
| Gowri Nayak, Lukas Varga, Claire Trincot, Mohsin Shahzad, Penelope L Friedman, Iwar Klimes, John H Greinwald, S Amer Riazuddin, Ivica Masindova, Milan Profant, Shaheen N Khan, Thomas B Friedman, Zubair M Ahmed, Daniela Gasperikova, Sheikh Riazuddin, Saima Riazuddi. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. Human genetics. vol 134. issue 4. 2015-05-13. PMID:25666562. |
finally, we observed no other clinical manifestations co-segregating with hearing loss in dfnb49 human families, and hypothesize that the additional abnormalities in the marveld2 mutant mouse indicates a critical non-redundant function for tricellulin in other organ systems. |
2015-05-13 |
2023-08-13 |
mouse |
| Gowri Nayak, Lukas Varga, Claire Trincot, Mohsin Shahzad, Penelope L Friedman, Iwar Klimes, John H Greinwald, S Amer Riazuddin, Ivica Masindova, Milan Profant, Shaheen N Khan, Thomas B Friedman, Zubair M Ahmed, Daniela Gasperikova, Sheikh Riazuddin, Saima Riazuddi. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. Human genetics. vol 134. issue 4. 2015-05-13. PMID:25666562. |
pathogenic mutations of marveld2, encoding tricellulin, a tricelluar tight junction protein, cause autosomal recessive non-syndromic hearing loss (dfnb49) in families of pakistan and czech roma origin. |
2015-05-13 |
2023-08-13 |
mouse |
| Gowri Nayak, Lukas Varga, Claire Trincot, Mohsin Shahzad, Penelope L Friedman, Iwar Klimes, John H Greinwald, S Amer Riazuddin, Ivica Masindova, Milan Profant, Shaheen N Khan, Thomas B Friedman, Zubair M Ahmed, Daniela Gasperikova, Sheikh Riazuddin, Saima Riazuddi. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. Human genetics. vol 134. issue 4. 2015-05-13. PMID:25666562. |
molecular genetics of marveld2 and clinical phenotype in pakistani and slovak families segregating dfnb49 hearing loss. |
2015-05-13 |
2023-08-13 |
mouse |
| Gowri Nayak, Lukas Varga, Claire Trincot, Mohsin Shahzad, Penelope L Friedman, Iwar Klimes, John H Greinwald, S Amer Riazuddin, Ivica Masindova, Milan Profant, Shaheen N Khan, Thomas B Friedman, Zubair M Ahmed, Daniela Gasperikova, Sheikh Riazuddin, Saima Riazuddi. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. Human genetics. vol 134. issue 4. 2015-05-13. PMID:25666562. |
we found that marveld2 variants are responsible for about 1.5 % (95 % ci 0.8-2.6) of non-syndromic hearing loss in our cohort of 800 pakistani families. |
2015-05-13 |
2023-08-13 |
mouse |
| Gowri Nayak, Sue I Lee, Rizwan Yousaf, Stephanie E Edelmann, Claire Trincot, Christina M Van Itallie, Ghanshyam P Sinha, Maria Rafeeq, Sherri M Jones, Inna A Belyantseva, James M Anderson, Andrew Forge, Gregory I Frolenkov, Saima Riazuddi. Tricellulin deficiency affects tight junction architecture and cochlear hair cells. The Journal of clinical investigation. vol 123. issue 9. 2013-11-26. PMID:23979167. |
mutations in tric (also known as marveld2), which encodes a tricellular tight junction protein known as tricellulin, lead to nonsyndromic hearing loss (dfnb49). |
2013-11-26 |
2023-08-12 |
mouse |
| D Šafka Brožková, J Laštůvková, H Štěpánková, M Krůtová, M Trková, P Myška, P Seema. DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population. Clinical genetics. vol 82. issue 6. 2013-04-12. PMID:22097895. |
to explore the importance of marveld2 mutations and dfnb49 for the general czech and central european population with early hearing loss we also tested 40 unrelated czech patients with ar nshl. |
2013-04-12 |
2023-08-12 |
Not clear |