PubMed for id: 343767

Year	Number of Results
1996	2
1997	1
1998	1
1999	1
2001	2
2002	3
2004	2
2005	1
2006	1
2008	2
2015	1
2016	3
2017	2
2018	1
2019	1
2020	2
2021	2
2022	4
2023	2
2024	0

1

Further characterization of the DFNA1 audiovestibular phenotype.

Lalwani AK, Jackler RK, Sweetow RW, Lynch ED, Raventós H, Morrow J, King MC, León PE. Lalwani AK, et al. Arch Otolaryngol Head Neck Surg. 1998 Jun;124(6):699-702. doi: 10.1001/archotol.124.6.699. Arch Otolaryngol Head Neck Surg. 1998. PMID: 9639482

2

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous.

Lynch ED, Lee MK, Morrow JE, Welcsh PL, León PE, King MC. Lynch ED, et al. Science. 1997 Nov 14;278(5341):1315-8. Science. 1997. PMID: 9360932

3

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.

Gan NS, Oziębło D, Skarżyński H, Ołdak M. Gan NS, et al. Audiol Neurootol. 2023;28(5):327-337. doi: 10.1159/000529464. Epub 2023 Apr 28. Audiol Neurootol. 2023. PMID: 37121227 Free article. Review.

4

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss.

Chiereghin C, Robusto M, Massa V, Castorina P, Ambrosetti U, Asselta R, Soldà G. Chiereghin C, et al. Cells. 2022 May 24;11(11):1726. doi: 10.3390/cells11111726. Cells. 2022. PMID: 35681420 Free PMC article. Review.

5

Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1.

Kim BJ, Miyoshi T, Chaudhry T, Friedman TB, Choi BY, Ueyama T. Kim BJ, et al. Clin Genet. 2022 Apr;101(4):466-471. doi: 10.1111/cge.14115. Epub 2022 Feb 2. Clin Genet. 2022. PMID: 35060117 Free PMC article.

6

Variable Autoinhibition among Deafness-Associated Variants of Diaphanous 1 (DIAPH1).

Lakha R, Montero AM, Jabeen T, Costeas CC, Ma J, Vizcarra CL. Lakha R, et al. Biochemistry. 2021 Jul 27;60(29):2320-2329. doi: 10.1021/acs.biochem.1c00170. Epub 2021 Jul 19. Biochemistry. 2021. PMID: 34279089 Free PMC article.

7

Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.

Miyoshi T, Belyantseva IA, Kitajiri SI, Miyajima H, Nishio SY, Usami SI, Kim BJ, Choi BY, Omori K, Shroff H, Friedman TB. Miyoshi T, et al. Hum Genet. 2022 Apr;141(3-4):363-382. doi: 10.1007/s00439-021-02304-0. Epub 2021 Jul 7. Hum Genet. 2022. PMID: 34232383 Review.

8

The integrity of cochlear hair cells is established and maintained through the localization of Dia1 at apical junctional complexes and stereocilia.

Ninoyu Y, Sakaguchi H, Lin C, Suzuki T, Hirano S, Hisa Y, Saito N, Ueyama T. Ninoyu Y, et al. Cell Death Dis. 2020 Jul 16;11(7):536. doi: 10.1038/s41419-020-02743-z. Cell Death Dis. 2020. PMID: 32678080 Free PMC article.

9

A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family.

Wu K, Wang H, Guan J, Lan L, Zhao C, Zhang M, Wang D, Wang Q. Wu K, et al. Int J Pediatr Otorhinolaryngol. 2020 Jun;133:109947. doi: 10.1016/j.ijporl.2020.109947. Epub 2020 Feb 13. Int J Pediatr Otorhinolaryngol. 2020. PMID: 32087478 Free article.

10

A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss.

Kang TH, Baek JI, Sagong B, Park HJ, Park CI, Lee KY, Kim UK. Kang TH, et al. Genes Genet Syst. 2017 Apr 4;91(5):289-292. doi: 10.1266/ggs.16-00041. Epub 2016 Dec 21. Genes Genet Syst. 2017. PMID: 28003573 Free article.

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