PubMed for id: 1677530014

Year	Number of Results
1987	1
1993	3
1995	2
2002	1
2003	1
2008	1
2014	1
2022	1
2023	4
2024	2

1

A de novo PKD1 mutation in a Chinese family with autosomal dominant polycystic kidney disease.

Wei T, Zhang B, Tang W, Li X, Shuai Z, Tang T, Zhang Y, Deng L, Liu Q. Wei T, et al. Medicine (Baltimore). 2024 Mar 29;103(13):e27853. doi: 10.1097/MD.0000000000027853. Medicine (Baltimore). 2024. PMID: 38552045 Free PMC article.

2

circSSPO boosts growth of esophageal squamous cell carcinoma through upregulation of micrRNA-6820-5p-mediated KLK8 and PKD1 expression.

Luo Q, Li J, Miao H, Su S, Chen Y, Xu C, Zhao C, Huang J, Ling K, Lin C, Yan H, Zhang S. Luo Q, et al. Cell Biol Toxicol. 2023 Dec;39(6):3219-3234. doi: 10.1007/s10565-023-09828-3. Epub 2023 Oct 9. Cell Biol Toxicol. 2023. PMID: 37812360

3

Polycystin-1 Interacting Protein-1 (CU062) Interacts with the Ectodomain of Polycystin-1 (PC1).

Lea WA, Winklhofer T, Zelenchuk L, Sharma M, Rossol-Allison J, Fields TA, Reif G, Calvet JP, Bakeberg JL, Wallace DP, Ward CJ. Lea WA, et al. Cells. 2023 Aug 29;12(17):2166. doi: 10.3390/cells12172166. Cells. 2023. PMID: 37681898 Free PMC article.

4

Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene.

Zheng Y, Wong L, Kwan AHW, Dong Z, Kwok KY, Choy KW, Dai H, Cao Y. Zheng Y, et al. Prenat Diagn. 2024 Feb;44(2):247-250. doi: 10.1002/pd.6419. Epub 2023 Aug 19. Prenat Diagn. 2024. PMID: 37596871

5

Congenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.

Gunay-Aygun M, Gahl WA, Heller T. Gunay-Aygun M, et al. 2008 Dec 9 [updated 2014 Apr 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2008 Dec 9 [updated 2014 Apr 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301743 Free Books & Documents. Review.

6

Polycystic Kidney Disease, Autosomal Dominant.

Harris PC, Torres VE. Harris PC, et al. 2002 Jan 10 [updated 2022 Sep 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Jan 10 [updated 2022 Sep 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301424 Free Books & Documents. Review.

7

Heritable Thoracic Aortic Disease Overview.

Milewicz DM, Cecchi AC. Milewicz DM, et al. 2003 Feb 13 [updated 2023 May 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Feb 13 [updated 2023 May 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301299 Free Books & Documents. Review.

8

Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat. The American PKD1 Consortium (APKD1 Consortium).

Burn TC, Connors TD, Dackowski WR, Petry LR, Van Raay TJ, Millholland JM, Venet M, Miller G, Hakim RM, Landes GM, et al. Burn TC, et al. Hum Mol Genet. 1995 Apr;4(4):575-82. doi: 10.1093/hmg/4.4.575. Hum Mol Genet. 1995. PMID: 7633406

9

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family.

Turco AE, Rossetti S, Bresin E, Corra S, Gammaro L, Maschio G, Pignatti PF. Turco AE, et al. Hum Mol Genet. 1995 Aug;4(8):1331-5. doi: 10.1093/hmg/4.8.1331. Hum Mol Genet. 1995. PMID: 7581371

10

Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16.

Watson ML, Wright AF, Macnicol AM, Allan PL, Clayton JF, Dempster M, Jeremiah SJ, Corney G, Hopkinson DA. Watson ML, et al. J Med Genet. 1987 Aug;24(8):457-61. doi: 10.1136/jmg.24.8.457. J Med Genet. 1987. PMID: 2821260 Free PMC article.

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