A <em>BBS4</em> mutation causes autosomal dominant polycystic liver disease

Yalu Cui; Wenping Xu; Jinpei Liu; Shuqing Liu; Wei Huang; Yihai Shi; Xin Zhang; Cuihua Lu; Weifen Xie

doi:10.1016/j.gendis.2023.02.042

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A BBS4 mutation causes autosomal dominant polycystic liver disease

Short communication | 更新时间：2024-02-04

- A BBS4 mutation causes autosomal dominant polycystic liver disease
- Genes & Diseases Vol. 1, Issue 1, Pages: 72-75(2024)
- 作者机构：
  
  1. Department of Gastroenterology, Changzheng Hospital, Naval Medical University,Shanghai,China,200003
  2. Department of Gastroenterology, Gongli Hospital of Shanghai Pudong New Area,Shanghai,China,200135
  3. Department of Gastroenterology, Affiliated Hospital of Nantong University, Nantong University,Jiangsu,Nantong,China,226001
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2023.02.042
  CLC：
- Published：2024，
  
  Published Online：1 January 2024，
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Yalu Cui, Wenping Xu, Jinpei Liu, et al. A BBS4 mutation causes autosomal dominant polycystic liver disease. [J]. Genes & Diseases 1(1):72-75(2024)
DOI：

Yalu Cui, Wenping Xu, Jinpei Liu, et al. A BBS4 mutation causes autosomal dominant polycystic liver disease. [J]. Genes & Diseases 1(1):72-75(2024) DOI： 10.1016/j.gendis.2023.02.042.

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1 P.Y. Lee-Law, L.F.M. van de Laarschot, J.M. Banales, et al.Genetics of polycystic liver diseases Curr Opin Gastroenterol, 35 (2) (2019), pp. 65-72

2 E.S. Wills, R. Roepman, J.P.H. DrenthPolycystic liver disease: ductal plate malformation and the primary cilium Trends Mol Med, 20 (5) (2014), pp. 261-270

3 R.E. Swiderski, D.Y. Nishimura, R.F. Mullins, et al.Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage Invest Ophthalmol Vis Sci, 48 (7) (2007), pp. 3329-3340

4 W.P. Xu, Y.L. Cui, L.L. Chen, et al.Deletion of Sox 9 in the liver leads to hepatic cystogenesis in mice by transcriptionally downregulating Sec63 J Pathol, 254 (1) (2021), pp. 57-69

5 J. Wang, H. Yang, R. Guo, et al.Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease Ann Transl Med, 9 (2) (2021), p. 120

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