Similar articles for PMID: 23714752

Year	Number of Results
1995	2
1996	1
1997	5
1998	2
1999	2
2000	1
2001	4
2002	4
2003	2
2004	2
2005	6
2006	2
2007	1
2008	2
2009	4
2010	6
2011	4
2012	4
2013	10
2014	14
2015	8
2016	9
2017	12
2018	9
2019	8
2020	12
2021	17
2022	10
2023	3
2024	0

1

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Müller CR, Kunstmann E. Rost S, et al. Eur J Hum Genet. 2014 Feb;22(2):208-15. doi: 10.1038/ejhg.2013.108. Epub 2013 May 29. Eur J Hum Genet. 2014. PMID: 23714752 Free PMC article.

2

Lack of collagen α6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation.

Tang S, Yonezawa T, Maeda Y, Ono M, Maeba T, Miyoshi T, Momota R, Tomono Y, Oohashi T. Tang S, et al. PLoS One. 2021 Apr 13;16(4):e0249909. doi: 10.1371/journal.pone.0249909. eCollection 2021. PLoS One. 2021. PMID: 33848312 Free PMC article.

3

Alport syndrome. Molecular genetic aspects.

Hertz JM. Hertz JM. Dan Med Bull. 2009 Aug;56(3):105-52. Dan Med Bull. 2009. PMID: 19728970

4

Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.

Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP. Sá MJ, et al. J Med Genet. 2013 Nov;50(11):745-53. doi: 10.1136/jmedgenet-2013-101670. Epub 2013 Aug 19. J Med Genet. 2013. PMID: 23958657

5

Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications.

O'Brien A, Aw WY, Tee HY, Naegeli KM, Bademci G, Tekin M, Arnos K, Pandya A. O'Brien A, et al. Eur J Hum Genet. 2022 Jan;30(1):7-12. doi: 10.1038/s41431-021-00881-2. Epub 2021 Apr 12. Eur J Hum Genet. 2022. PMID: 33840813 Free PMC article.

6

A COL4A5 Missense Variant in a Han-Chinese Family with X-linked Alport Syndrome.

Wu Y, Guo Y, Yuan J, Xu H, Chen Y, Zhang H, Yuan M, Deng H, Yuan L. Wu Y, et al. Curr Mol Med. 2019;19(10):758-765. doi: 10.2174/1566524019666190906144214. Curr Mol Med. 2019. PMID: 31490752

7

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N. Hertz JM, et al. Hum Mutat. 2001 Aug;18(2):141-8. doi: 10.1002/humu.1163. Hum Mutat. 2001. PMID: 11462238 Free article.

8

X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.

Fu XJ, Nozu K, Eguchi A, Nozu Y, Morisada N, Shono A, Taniguchi-Ikeda M, Shima Y, Nakanishi K, Vorechovsky I, Iijima K. Fu XJ, et al. Clin Exp Nephrol. 2016 Oct;20(5):699-702. doi: 10.1007/s10157-015-1197-9. Epub 2015 Nov 18. Clin Exp Nephrol. 2016. PMID: 26581810

9

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K. Kamiyoshi N, et al. Clin J Am Soc Nephrol. 2016 Aug 8;11(8):1441-1449. doi: 10.2215/CJN.01000116. Epub 2016 Jun 8. Clin J Am Soc Nephrol. 2016. PMID: 27281700 Free PMC article.

10

Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.

Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY. Kim SY, et al. J Gene Med. 2016 Nov;18(11-12):353-358. doi: 10.1002/jgm.2935. J Gene Med. 2016. PMID: 27886419 Free PMC article.

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