Li P - Search Results

1

TSC complex decrease the expression of mTOR by regulated miR-199b-3p.

Zhao N, Xiong Q, Li P, Chen G, Xiao H, Wu C. Zhao N, et al. Among authors: li p. Sci Rep. 2025 Jan 13;15(1):1892. doi: 10.1038/s41598-025-85706-8. Sci Rep. 2025. PMID: 39806027 Free PMC article.

2

Functional Characterization of FH Mutation c.557G>A Underlies Uterine Leiomyomas.

Li P, Wu Y, Wu H, Xiong Q, Zhao N, Chen G, Wu C, Xiao H. Li P, et al. Int J Mol Sci. 2022 Jan 27;23(3):1452. doi: 10.3390/ijms23031452. Int J Mol Sci. 2022. PMID: 35163394 Free PMC article.

3

A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.

Xiong Q, Liu Y, Xue Y, Liu S, Wang J, Li P, Wu C, Yang Y, Xiao H. Xiong Q, et al. Among authors: li p. Hum Genome Var. 2018 Jan 11;5:17059. doi: 10.1038/hgv.2017.59. eCollection 2018. Hum Genome Var. 2018. PMID: 29354277 Free PMC article.

4

Functional evidence for a de novo mutation in WDR45 leading to BPAN in a Chinese girl.

Xiong Q, Li W, Li P, Zhao Z, Wu C, Xiao H. Xiong Q, et al. Among authors: li w, li p. Mol Genet Genomic Med. 2019 Sep;7(9):e858. doi: 10.1002/mgg3.858. Epub 2019 Jul 22. Mol Genet Genomic Med. 2019. PMID: 31332960 Free PMC article.

5

A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndrome.

Zhao N, Wu H, Li P, Wang Y, Dong L, Xiao H, Wu C. Zhao N, et al. Among authors: li p. Mol Genet Genomic Med. 2021 Aug;9(8):e1729. doi: 10.1002/mgg3.1729. Epub 2021 Jun 3. Mol Genet Genomic Med. 2021. PMID: 34080793 Free PMC article.

6

Identification of Two Novel Compound Heterozygous EIF2AK3 Mutations Underlying Wolcott-Rallison Syndrome in a Chinese Family.

Zhao N, Yang Y, Li P, Xiong Q, Xiao H, Wu C. Zhao N, et al. Among authors: li p. Front Pediatr. 2021 May 26;9:679646. doi: 10.3389/fped.2021.679646. eCollection 2021. Front Pediatr. 2021. PMID: 34123975 Free PMC article.

7

Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.

Zhang Y, Xiao H, Xiong Q, Wu C, Li P. Zhang Y, et al. Among authors: li p. Int J Mol Sci. 2021 Oct 12;22(20):11008. doi: 10.3390/ijms222011008. Int J Mol Sci. 2021. PMID: 34681668 Free PMC article.

8

Identification and Functional Evaluation of a Novel TBX4 Mutation Underlies Small Patella Syndrome.

Li P, Lan W, Li J, Zhang Y, Xiong Q, Ye J, Wu C, Xiao H. Li P, et al. Among authors: li j. Int J Mol Sci. 2022 Feb 14;23(4):2075. doi: 10.3390/ijms23042075. Int J Mol Sci. 2022. PMID: 35216193 Free PMC article.

9

GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease.

Li P, Xi Y, Zhang Y, Samad A, Lan W, Wu Y, Zhao J, Chen G, Wu C, Xiong Q. Li P, et al. Cells. 2024 Mar 1;13(5):437. doi: 10.3390/cells13050437. Cells. 2024. PMID: 38474401 Free PMC article.

10

A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.

Li P, Zhang L, Zhao N, Xiong Q, Zhou YA, Wu C, Xiao H. Li P, et al. Front Genet. 2019 Feb 11;10:60. doi: 10.3389/fgene.2019.00060. eCollection 2019. Front Genet. 2019. PMID: 30853972 Free PMC article.

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