Li H - Search Results

1

The role of mitochondrial-related nuclear genes in age-related common disease.

Li H, Slone J, Huang T. Li H, et al. Mitochondrion. 2020 Jul;53:38-47. doi: 10.1016/j.mito.2020.04.012. Epub 2020 Apr 30. Mitochondrion. 2020. PMID: 32361035 Review.

2

Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations.

Li H, Slone J, Fei L, Huang T. Li H, et al. Cells. 2019 Jun 18;8(6):608. doi: 10.3390/cells8060608. Cells. 2019. PMID: 31216686 Free PMC article. Review.

3

Skeleton Genetics: a comprehensive database for genes and mutations related to genetic skeletal disorders.

Chen C, Jiang Y, Xu C, Liu X, Hu L, Xiang Y, Chen Q, Chen D, Li H, Xu X, Tang S. Chen C, et al. Among authors: li h. Database (Oxford). 2016 Aug 31;2016:baw127. doi: 10.1093/database/baw127. Print 2016. Database (Oxford). 2016. PMID: 27580923 Free PMC article.

4

Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.

Xiang YB, Tang SH, Li HZ, Xu CY, Chen C, Xu YZ, Ding LR, Xu XQ. Xiang YB, et al. Int J Pediatr Otorhinolaryngol. 2019 Jul;122:185-190. doi: 10.1016/j.ijporl.2019.04.024. Epub 2019 Apr 21. Int J Pediatr Otorhinolaryngol. 2019. PMID: 31035178

5

The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.

Lu J, Li H, Zhang H, Lin Z, Xu C, Xu X, Hu L, Luan Z, Lou Y, Tang S. Lu J, et al. Among authors: li h. J Clin Lab Anal. 2021 Dec;35(12):e24089. doi: 10.1002/jcla.24089. Epub 2021 Nov 11. J Clin Lab Anal. 2021. PMID: 34766372 Free PMC article.

6

Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family.

Chen C, Xu C, Li H, Jia M, Tang S. Chen C, et al. Among authors: li h. Int J Dermatol. 2019 Apr;58(4):493-496. doi: 10.1111/ijd.14129. Epub 2018 Jun 27. Int J Dermatol. 2019. PMID: 29951998 No abstract available.

7

Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.

Xiang YB, Xu CY, Xu YZ, Li HZ, Zhou LL, Xu XQ, Chen ZH, Tang SH. Xiang YB, et al. Mol Genet Genomic Med. 2020 Dec;8(12):e1539. doi: 10.1002/mgg3.1539. Epub 2020 Oct 23. Mol Genet Genomic Med. 2020. PMID: 33095980 Free PMC article.

8

[Mutation analysis and prenatal diagnosis for 12 families affected with hereditary hearing loss and enlarged vestibular aqueduct].

Xiang Y, Li H, Xu X, Xu C, Chen C, Lin X, Tang S. Xiang Y, et al. Among authors: li h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):336-341. doi: 10.3760/cma.j.issn.1003-9406.2017.03.005. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28604950 Chinese.

9

Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability.

Chen X, Li H, Chen C, Zhou L, Xu X, Xiang Y, Tang S. Chen X, et al. Among authors: li h. Mol Diagn Ther. 2018 Dec;22(6):749-757. doi: 10.1007/s40291-018-0358-4. Mol Diagn Ther. 2018. PMID: 30259421

10

The variations in human orphan G protein-coupled receptor QRFPR affect PI3K-AKT-mTOR signaling.

Li H, Lou R, Xu X, Xu C, Yu Y, Xu Y, Hu L, Xiang Y, Lin X, Tang S. Li H, et al. J Clin Lab Anal. 2021 Jul;35(7):e23822. doi: 10.1002/jcla.23822. Epub 2021 May 21. J Clin Lab Anal. 2021. PMID: 34018631 Free PMC article.

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