1 Leon PE, Raventos H, Lynch E, et al. The gene for an inherited form of deafness maps to chromosome 5q31[J]. Proc Natl Acad Sci USA, 1992,89:5181.

2 Lynch ED. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the drosophila gene diaphanous[J]. Science,1997,278:1315.

3 Bespalova IN, Van Camp G, Bom SJ, et al. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss[J]. Hum Mol Genet, 2001,10:2501.

4 Modamio-Hoybjor S, Mencia A, Goodyear R, et al. A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss[J]. Am J Hum Genet,2007,80:1076.

5 Zhao Y, Zhao F, Zong L, et al. Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss[J]. PLoS One, 2013,8:e69549.

6 Bione S, Sala C, Manzini C, et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility[J]. Am J Hum Genet,1998,62:533.

7 Schoen CJ, Emery SB, Thorne MC, et al. Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila[J]. Proc Natl Acad Sci USA, 2010,107:13396.

8 Jiang J. Diaphanous-related formin-3 overexpression inhibits the migration and invasion of triple-negative breast cancer by inhibiting RhoA-GTP expression[J]. Biomed Pharmacother,2017,94:439.

9 Dong L, Li Z, Xue L, et al. DIAPH3 promoted the growth, migration and metastasis of hepatocellular carcinoma cells by activating beta-catenin/TCF signaling[J]. Mol Cell Biochem, 2018,438:183.

10 Dvorak KM, Pettee KM, Rubinic-Minotti K,et al. Carcinoma associated fibroblasts (CAFs) promote breast cancer motility by suppressing mammalian Diaphanous-related formin-2 (mDia2)[J]. PLoS One, 2018,13:e0195278.

11 Kovar DR, Kuhn JR, Tichy AL, et al. The fission yeast cytokinesis formin Cdc12p is a barbed end actin filament capping protein gated by profilin[J]. J Cell Biol, 2003,161:875.

12 Watanabe N, Kato T, Fujita A, et al. Cooperation between mDia1 and ROCK in Rho-induced actin reorganization[J]. Nat Cell Biol, 1999,1:136.

13 Li F, Higgs HN. Dissecting requirements for auto-inhibition of actin nucleation by the formin, mDia1[J]. J Biol Chem,2005,280:6986.

14 Alberts AS. Identification of a carboxyl-terminal diaphanous-related formin homology protein autoregulatory domain[J]. J Biol Chem, 2001,276:2824.

15 Li F, Higgs HN. The mouse formin mDia1 Is a potent actin nucleation factor regulated by autoinhibition[J]. Current Biology, 2003,13:1335.

16 Lammers M, Rose R, Scrima A, et al. The regulation of mDia1 by autoinhibition and its release by Rho*GTP[J]. EMBO J, 2005,24:4176.

17 Otomo T, Otomo C, Tomchick DR, et al. Structural basis of Rho GTPase-mediated activation of the formin mDia1[J]. Mol Cell,2005,18:273.

18 Sagot I, Rodal AA, Moseley J, et al. An actin nucleation mechanism mediated by Bni1 and profilin[J]. Nat Cell Biol,2002,4:626.

19 Pring M, Evangelista M, Boone C, et al. Mechanism of formin-induced nucleation of actin filaments[J]. Biochemistry,2003,42:486.

20 Harris ES, Li F, Higgs HN. The mouse formin, FRLalpha, slows actin filament barbed end elongation, competes with capping protein, accelerates polymerization from monomers, and severs filaments[J]. J Biol Chem,2004,279:20076.

21 Kovar DR, Pollard TD. Insertional assembly of actin filament barbed ends in association with formins produces piconewton forces[J]. Proc Natl Acad Sci USA,2004,101:14725.

22 Kovar DR. Molecular details of formin-mediated actin assembly[J]. Curr Opin Cell Biol, 2006,18:11.

23 Wallar BJ, Alberts AS. The formins: active scaffolds that remodel the cytoskeleton[J]. Trends in Cell Biology,2003,13:435.

24 Goode BL, Eck MJ. Mechanism and function of formins in the control of actin assembly[J]. Annu Rev Biochem,2007,76:593.

25 Chesarone MA, DuPage AG, Goode BL. Unleashing formins to remodel the actin and microtubule cytoskeletons[J]. Nat Rev Mol Cell Biol,2010,11:62.

26 王秋菊, 沈亦平, 邬玲仟,等. 遗传变异分类标准与指南[J].中国科学:生命科学,2017,47:668.

27 Jarvik GP, Browning BL. Consideration of cosegregation in the pathogenicity classification of genomic variants[J]. Am J Hum Genet,2016,98:1077.

28 Lalwani AK, Jackler RK, Sweetow RW, et al. Further characterization of the DFNA1 audiovestibular phenotype[J]. Arch Otolaryngol Head Neck Surg,1998,124:699.

29 Baek JI, Oh SK, Kim DB, et al. Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families[J]. Orphanet J Rare Dis,2012,7:60.

30 Kang TH, Baek JI, Sagong B, et al. A novel missense variant in the DIAPH1 gene in a Korean family with autosomal dominant nonsyndromic hearing loss[J]. Genes Genet Syst,2017,91:289.

31 Stritt S, Nurden P, Turro E, et al. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss[J]. Blood, 2016,127:2903.

32 Pan J, Lordier L, Meyran D, et al. The formin DIAPH1 (mDia1) regulates megakaryocyte proplatelet formation by remodeling the actin and microtubule cytoskeletons[J]. Blood, 2014,124:3967.

33 Neuhaus C, Lang-Roth R, Zimmermann U, et al. Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1)[J]. Clin Genet, 2017,91:892.

34 Ganaha A, Kaname T, Shinjou A, et al. Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease[J]. Am J Med Genet A, 2017,173:2826.

35 Ueyama T, Ninoyu Y, Nishio SY, et al. Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss[J]. EMBO Mol Med, 2016,8:1310.

36 Ercan-Sencicek AG, Jambi S, Franjic D, et al. Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans[J]. Eur J Hum Genet,2015,23:165.

37 Al-Maawali A, Barry BJ, Rajab A, et al. Novel loss-of-function variants inDIAPH1associated with syndromic microcephaly, blindness, and early onset seizures[J]. American Journal of Medical Genetics Part A, 2016,170:435.