1. Using a large number of collected clinical resources of genetic defects to identify their pathogenic gene and study their pathogenic mechanism (such as hereditary ophthalmopathy, hearing impairment, mental retardation and primary infertility, etc.);

2. Studying on the molecule mechanism of Degenerative disease from autophagy;

3. Studying on the regulation mechanism of epigenetics of proliferation and differentiation of adult cells / stem cells.

Research carried out:

Concentrating on inherited disorders and birth defects, and focusing on the cases that incurable at present. Behind each of difficult cases, there are many important scientific problems about clinical research and basic research, so we will carry out researches about genetic causes and mechanisms by using genetic and functional genomics methods. The answer to these scientific questions is an important source of motivation for clinical and basic research. It is also the key to the realization of precision medicine and translational medicine research.

The main researches of the project group mainly includes the following aspects:

1.Using a large number of collected clinical resources of genetic defects to identify their pathogenic gene and study their pathogenic mechanism

The focuses of the research group are hereditary diseases of EENT, children, nervus and reproduction, etc. and focusing on the research of the following three problems:

（1） Genetic method, high throughput sequencing, genome-wide scanning and linkage analysis, were applied to identify new pathogenic genes or pathogenic genome rearrangements with bioinformatics analysis.

（2） Studying on the pathogenesis of gene defect by cell model and transgenic / knockout mouse model

（3） Making gene mutation spectrum of diseases and phenotypic association, based on the common heredopathia of ENT Department, Pediatrics, Neurology department and Reproductive Department, to develop effective and low-cost diagnostic methods to improve the accuracy, prejudgement and popularity of early diagnosis of genetic diseases, and explore individualized treatment plan.

2. Studying on the molecule mechanism of Degenerative disease from autophagy

Autophagy is an important mechanism for the maintenance of protein balance and stress response. Clearance of organelles and parts of protein is necessary for the establishment and maintenance of transparency of the lens, for keeping healthy cells, the number and mass of organelles and macromolecules are regulated by activating the autophagy of lysosomes when innutrition or what can influence energy generation. The leader of the research group first identified the gene FYCO1 of congenital cataract in the previous work, and speculated that autophagy may play an important role in the establishment and maintenance of lens transparency. Cataract is a degenerative disease, and almost no one can escape with age, so it is possible to find a common mechanism for degenerative diseases from the study of the pathogenesis of FYCO1 defects in congenital cataracts. The laboratory is currently using cell and animal models to study the function of FYCO1 in cell autophagy through molecular biology and cell biology experiments, and to some extent, elucidate the molecular mechanism of degenerative diseases

3. Studying on the regulation mechanism of epigenetics of proliferation and differentiation of adult cells / stem cells

Searching for key molecular regulatory pathways regulating the proliferation and differentiation of adult stem cells in ocular epithelial tissue by analyzing transcriptional genome and epigenetics of adult stem cells and eye epithelial cells in the eye epithelium. Besides, studying the regulatory effect of these molecular pathways on the process of ocular epithelial tissue regeneration is one of the research direction

Awards:

（1） Chen Jianjun, FYCO1 Cause Autosomal Recessive Congenital Cataract, Travel award in American ophthalmology Foundation，HENRY FUKUI TRAVEL AWARD，2012;

（2） Chen Jianjun, Doctoral Dissertation (2008-2009), The Ministry of Education and the academic degrees committee of the State Council, nomination of National Excellent Doctoral Dissertations,2008.

（3） Zhang Xuejun, Yang Sen, Gui Jinping, Hu Zhi, Xiong Quangeng, Liu Jianjun, Chen Jianjun, Liu Jiangbo, Du Wenhui, Shen Yujun, Wang Zaixing, Gao Min, Cui Yong, Xia Qing, Wang Jiyun, Zhou Fusheng, Zhang Anping, Yang Chunjun, the genetics study of vitiligo, the first prize of the Science and Technology Award and Nature Science Award, the Ministry of Education,2007.

（4） Zhang Xuejun, Huang Wei, Yang Sen, Liang Yanhua, Gao Min, He Pingping, Wang Hongyan, Chen Jianjun, Xu Shijie, Cui Yong, Genetics research of multiple familial hair epithelioma(200601154), the first prize of the Science and Technology Award, Chinese Medical Association,2006;

（5） Chen Jianjun, Zhang Xuejun, using whole-genome scanning to locate the susceptible genes of vitiligo vulgaris of Chinese in 4q13-q21 for the first time(2006027)，The first prize of the fifth nature and science outstanding academic thesis award, AnHui Association for Science and Technology, AnHui Department of Science and Technology, Department of Personnel of Anhui Province,2006;

（6） Zhang Xuejun, Yang Sen, Huang Wei, Gao Min, Wang Peiguang, Lin Guoshu, Chen Jianjun, Liang Yanhua, utilization of important genetic resources of dermatosis, the second prize of Progress Prize in Scientific and Technology(Science and Technology category), AnHui Department of Science and Technology,2006;

（7） Zhang Xuejun, Huang Wei, Yang Sen, Liang Yanhua, Gao Min, He Pingping, Wang Hongyan, Chen Jianjun, Genetics research of multiple familial hair epithelioma, the second prize of Progress Prize in Scientific and Technology(Science and Technology category), AnHui Department of Science and Technology,2005.

1. Chen J ^#, Wang Q#,, Cabrera PE, Zhong Z, Sun W, Jiao X, Chen Y, Govindarajan G, Naeem MA, Khan SN, Ali MH, Assir MZ, Rahman FU, Qazi ZA, Riazuddin S, Akram J, Riazuddin SA, Hejtmancik JF*. Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2207-2217. doi: 10.1167/iovs.17-21469.

2. Zhong Z, Wu Z, Han L, Chen J*. Novel mutations in CRYGC are associated with congenital cataracts in Chinese families. Sci Rep. 2017 Mar 15; 7(1):189. doi: 10.1038/s41598-017-00318-1.

3. Wang J, Gao F, Li J, Zhang J, Li S, Xu GT, Xu L, Chen J, Lu L*. The usability of WeChat as a mobile and interactive medium in student-centered medical teaching. Biochem Mol Biol Educ. 2017 Sep;45(5):421-425. doi: 10.1002/bmb.21065. Epub 2017 Jun 5.

4. Li L^#, Chen Y^#, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF*. Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238. doi: 10.1167/iovs.17-21424.

5. Zhong Z^#, Yan M^#, Sun W, Wu Z, Han L, Zhou Z, Zheng F*., Chen J*. Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa. Sci Rep. 2016 Nov 25; 6:37840. doi: 10.1038/srep37840.

6. Zhong Z, Zhong M, Lu Y, Lu L, Wang J, Xu D, Wang F, Xu G, Chen J*. Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis. Clin Exp Dermatol. 2016 Mar;41(2):175-8. doi: 10.1111/ced.12711. Epub 2015 Aug 12.

7. Liao RF^#, Zhong ZL^#, Ye MJ, Han LY, Ye DQ*, Chen JJ. Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma. Chin Med J (Engl). 2016 Dec 5;129(23):2810-2815. doi: 10.4103/0366-6999.194641.

8. Ding X, Zhou N, Lin H, Chen J, Zhao C, Zhou G, Hejtmancik JF, Qi Y*. A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract. PLoS One. 2014 Jul 17;9(7):e102733. doi: 10.1371/journal.pone.0102733. eCollection 2014.

9. Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL*. Genotype-phenotype correlations in Bardet-Biedl syndrome. Arch Ophthalmol. 2012 Jul;130(7):901-7. doi: 10.1001/archophthalmol.2012.89.

10. Chen J, Smaoui N, Hammer MB, Jiao X, Riazuddin SA, Harper S, Katsanis N, Riazuddin S, Chaabouni H, Berson EL, Hejtmancik JF*. Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Invest Ophthalmol Vis Sci. 2011 Jul 18;52(8):5317-24. doi: 10.1167/iovs.11-7554.

11. Chen J^#, Ma Z^#,, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF*. Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet. 2011 Jun 10;88(6):827-838. doi: 10.1016/j.ajhg.2011.05.008.

12. Chen J, Wildhardt G, Zhong Z, Röth R, Weiss B, Steinberger D, Decker J, Blum WF, Rappold G*. Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. J Med Genet. 2009 Dec;46(12):834-9. doi: 10.1136/jmg.2009.067785. Epub 2009 Jul 2.

13. Xu S, Zhou Y, Yang S, Ren Y, Zhang C, Quan C, Gao M, He C, Chen H, Hhan J, Chen J, Liang Y, Yang J, Sun L, Yin X, Liu J, Zhang X*. Platelet-derived growth factor receptor alpha gene mutations in vitiligo vulgaris. Acta Derm Venereol. 2010 Mar;90(2):131-5. doi: 10.2340/00015555-0820.

14. Liang Y, Yang S, Zhou Y, Gui J, Ren Y, Chen J, Fan X, Sun L, Xiao F, Gao M, Du W, Fang Q, Xu S, Huang W, Zhang X*. Evidence for two susceptibility loci on chromosomes 22q12 and 6p21-p22 in Chinese generalized vitiligo families. J Invest Dermatol. 2007 Nov;127(11):2552-7. Epub 2007 Jun 14.

15. Yan KL, Huang W, Zhang XJ, Yang S, Chen YM, Xiao FL, Fan X, Gao M, Cui Y, Zhang GL, Sun LD, Wang PG, Chen JJ, Li W, Chen ZH, Wang ZM, Wang DZ, Zhang KY, Liu JJ*. Follow-up analysis of PSORS9 in 151 Chinese families confirmed the linkage to 4q31-32 and refined the evidence to the families of early-onset psoriasis. J Invest Dermatol. 2007 Feb;127(2):312-8. Epub 2006 Nov 30.

16. Hou Y, Chen J, Gao M, Zhou F, Du W, Shen Y, Yang S, Zhang XJ*. Five novel mutations of RNA-specific adenosine deaminase gene with dyschromatosis symmetrica hereditaria. Acta Derm Venereol. 2007;87(1):18-21.

17. Wang J, Yang S, Chen JJ, Zhou SM, He SM, Liang YH, Meng W, Yan XF, Liu JJ, Ye DQ, Zhang XJ*. Systemic lupus erythematosus: a genetic epidemiology study of 695 patients from China. Arch Dermatol Res. 2007 Mar;298(10):485-91.

18. Zhao XY, Yang S, Zhou HL, Zhu YG, Wei L, Du WH, Ren YQ, Liang YH, Hou YX, Chen JJ, Zhang XJ*. Two novel TSC2 mutations in Chinese patients with tuberous sclerosis complex and a literature review of 20 patients reported in China. Br J Dermatol. 2006 Nov;155(5):1070-3.

19. Cui Y, Yang S, Gao M, Zhou WM, Li M, Wang Y, Chen JJ, Yan KL, Niu ZM, Wang PG, Xiao FL, Liang YH, Sun LD, Fan X, Huang W, Zhang XJ*. Identification of a novel locus for progressive symmetric erythrokeratodermia to a 19.02-cM interval at 21q11.2-21q21.2. J Invest Dermatol. 2006 Sep;126(9):2136-9. Epub 2006 May 11. No abstract available.

20. Zhu YG, Yang S, Gao M, Chen JJ, Li W, Wang PG, Zhou HL, Zhao XY, Ren YQ, Xiao FL, Du WH, Zhang XJ*, Zhou FS, Shen YJ. Two novel mutations of the ATP2C1 gene in Chinese families with Hailey-Hailey disease. J Dermatol Sci. 2006 May;42(2):125-7. Epub 2006 Mar 15. No abstract available.

21. Yan KL, Zhang XJ, Wang ZM, Yang S, Zhang GL, Wang J, Xiao FL, Gao M, Cui Y, Chen JJ, Fan X, Sun LD, Xia Q, Zhang KY, Niu ZM, Xu SJ, Tzschach A, Ropers H, Huang W, Liu JJ*. A novel MGST2 non-synonymous mutation in a Chinese pedigree with psoriasis vulgaris. J Invest Dermatol. 2006 May;126(5):1003-5.

22. Xiao FL, Yang S, Yan KL, Cui Y, Liang YH, Zhou FS, Du WH, Gao M, Sun LD, Fan X, Chen JJ, Wang PG, Zhu YG, Zhou SM, Zhang XJ*. Association of HLA class I alleles with aloplecia areata in Chinese Hans. J Dermatol Sci. 2006 Feb;41(2):109-19. Epub 2005 Sep 23.

23. Chen JJ^#, Liang YH^#, Zhou FS, Yang S, Wang J, Wang PG, Du WH, Xu SJ, Huang W, Zhang XJ*. The gene for a rare autosomal dominant form of pompholyx maps to chromosome 18q22.1-18q22.3. J Invest Dermatol. 2006 Feb;126(2):300-4.

24. Zhang XJ*, Chen JJ, Liu JB. The genetic concept of vitiligo. J Dermatol Sci. 2005 Sep;39(3):137-46. Review.

25. Chen JJ^#, Huang W^#, Gui JP, Yang S, Zhou FS, Xiong QG, Wu HB, Cui Y, Gao M, Li W, Li JX, Yan KL, Yuan WT, Xu SJ, Liu JJ, Zhang XJ*. A novel linkage to generalized vitiligo on 4q13-q21 identified in a genomewide linkage analysis of Chinese families. Am J Hum Genet. 2005 Jun;76(6):1057-65. Epub 2005 Apr 4.

26. Zhang XJ*, Chen JJ, Gao M. [Research status of genodermatoses in China]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2005 Jun;27(3):408-14. Review. Chinese.

27. Cui Y, Wang J, Yang S, Gao M, Chen JJ, Yan KL, Xiao FL, Huang W, Zhang XJ*. Identification of a novel mutation in the DSRAD gene in a Chinese pedigree with dyschromatosis symmetrica hereditaria. Arch Dermatol Res. 2005 May;296(11):543-5. Epub 2005 Mar 15.

28. Gao M, Wang PG, Yang S, Hu XL, Zhang KY, Zhu YG, Ren YQ, Du WH, Zhang GL, Cui Y, Chen JJ, Yan KL, Xiao FL, Xu SJ, Huang W, Zhang XJ*. Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria. Arch Dermatol. 2005 Feb;141(2):193-6.

29. Gao M, Yang S, Li M, Yan KL, Jiang YX, Cui Y, Xiao FL, Shen YJ, Chen JJ, Liu JB, Xu SJ, Huang W, Zhang XJ*. Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31. Br J Dermatol. 2005 May;152(5):874-8.

30. Cui Y, Yang S, He PP, Zhou WM, Li M, Gao M, Chen JJ, Yan KL, Xiao FL, Xu SJ, Huang W, Zhang XJ*. Progressive symmetric erythrokeratodermia: report of a Chinese family and evidence for genetic heterogeneity. J Dermatol Sci. 2004 Sep;35(3):233-5. No abstract available.

31. Zhang XJ*, He PP, Li M, He CD, Yan KL, Cui Y, Yang S, Zhang KY, Gao M, Chen JJ, Li CR, Jin L, Chen HD, Xu SJ, Huang W. Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). Hum Mutat. 2004 Jun;23(6):629-30.

32. Zhang XJ*, Liang YH, He PP, Yang S, Wang HY, Chen JJ, Yuan WT, Xu SJ, Cui Y, Huang W. Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol. 2004 Mar;122(3):658-64.

33. Yang S, Ge HS, Zhang AP, Wei SC, Gao M, Wang HY, Chen JJ, Li M, Liang YH, He PP, Yang J, Zhang XJ*. Haplotype associations of the MHC with psoriasis vulgaris in Chinese Hans. Clin Exp Dermatol. 2004 Jul;29(4):399-405.

34. He PP, He CD, Cui Y, Yang S, Xu HH, Li M, Yuan WT, Gao M, Liang YH, Li CR, Xu SJ, Chen JJ, Chen HD, Huang W, Zhang XJ*. Refined localization of dyschromatosis symmetrica hereditaria gene to a 9.4-cM region at 1q21-22 and a literature review of 136 cases reported in China. Br J Dermatol. 2004 Apr;150(4):633-9.

35. Zhang XJ*, Zhang AP, Yang S, Gao M, Wei SC, He PP, Wang HY, Song YX, Cui Y, Chen JJ. Association of HLA class I alleles with psoriasis vulgaris in southeastern Chinese Hans. J Dermatol Sci. 2003 Oct;33(1):1-6.

36. Zhang XJ*, Chen JJ, Yang S, Cui Y, Xiong XY, He PP, Dong PL, Xu SJ, Li YB, Zhou Q, Wang Y, Huang W. A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. J Dermatol Sci. 2003 Jun;32(1):11-7.

37. Zhang XJ*, Chen JJ, Song YX, Yang S, Xiong XY, Zhang AP, He PP, Gao M, Li YB, Lin D, Huang W. Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia. Arch Dermatol Res. 2003 Apr;295(1):38-42. Epub 2003 Mar 22. No abstract available.