Shi X - Search Results

1

A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.

Xu Q, Tang H, Duan L, Zuo X, Shi X, Li Y, Zhao H, Zhang H. Xu Q, et al. Among authors: shi x. Mol Genet Genomic Med. 2021 Jan;9(1):e1568. doi: 10.1002/mgg3.1568. Epub 2020 Dec 5. Mol Genet Genomic Med. 2021. PMID: 33280276 Free PMC article.

2

CSF3R T618I, ASXL1 G942 fs and STAT5B N642H trimutation co-contribute to a rare chronic neutrophilic leukaemia manifested by rapidly progressive leucocytosis, severe infections, persistent fever and deep venous thrombosis.

Luo Q, Shen J, Yang Y, Tang H, Shi M, Liu J, Liu Z, Shi X, Yi Y. Luo Q, et al. Among authors: shi m, shi x. Br J Haematol. 2018 Mar;180(6):892-894. doi: 10.1111/bjh.14456. Epub 2016 Dec 16. Br J Haematol. 2018. PMID: 27984641 Free article. No abstract available.

3

A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7.

Wu B, Zhang Y, Tang H, Yang M, Long H, Shi G, Tang J, Shi X. Wu B, et al. Among authors: shi x, shi g. Curr Mol Med. 2017;17(6):450-457. doi: 10.2174/1566524017666171009105029. Curr Mol Med. 2017. PMID: 28990532

4

Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report.

Yi Y, Dang X, Li Y, Zhao C, Tang H, Shi X. Yi Y, et al. Among authors: shi x. Mol Med Rep. 2018 Jan;17(1):382-387. doi: 10.3892/mmr.2017.7867. Epub 2017 Oct 25. Mol Med Rep. 2018. PMID: 29115431

5

Alcohol-aggravated episodic pain in humans with SCN11A mutation and ALDH2 polymorphism.

Yang L, Li L, Tang H, Ma T, Li Y, Zhang X, Shi X, Liu JY. Yang L, et al. Among authors: shi x. Pain. 2020 Jul;161(7):1470-1482. doi: 10.1097/j.pain.0000000000001853. Pain. 2020. PMID: 32132394

6

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

Zhao C, Tang D, Huang H, Tang H, Yang Y, Yang M, Luo Y, Tao H, Tang J, Zhou X, Shi X. Zhao C, et al. Among authors: shi x. PLoS One. 2020 May 14;15(5):e0233017. doi: 10.1371/journal.pone.0233017. eCollection 2020. PLoS One. 2020. PMID: 32407401 Free PMC article.

7

Novel homozygous protein-truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet-Biedl syndrome.

Tang HY, Xie F, Dai RC, Shi XL. Tang HY, et al. Mol Genet Genomic Med. 2021 Aug;9(8):e1731. doi: 10.1002/mgg3.1731. Epub 2021 Jul 2. Mol Genet Genomic Med. 2021. PMID: 34212515 Free PMC article.

8

Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.

Xiao Z, Yang Y, Huang H, Tang H, Liu L, Tang J, Shi X. Xiao Z, et al. Among authors: shi x. Mol Genet Genomic Med. 2021 Sep;9(9):e1735. doi: 10.1002/mgg3.1735. Epub 2021 Jul 29. Mol Genet Genomic Med. 2021. PMID: 34324271 Free PMC article.

9

Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.

Tang H, Shi X, Zhang G. Tang H, et al. Among authors: shi x. Clin Case Rep. 2021 Dec 5;9(12):e05082. doi: 10.1002/ccr3.5082. eCollection 2021 Dec. Clin Case Rep. 2021. PMID: 34917360 Free PMC article.

10

Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.

Liu XP, Ling J, Xiong H, Shi XL, Sun X, Pan Q, Hu ZM, Wu LQ, Liang DS, Long ZG, Dai HP, Xia JH, Xia K. Liu XP, et al. Among authors: shi xl. J Eur Acad Dermatol Venereol. 2009 Sep;23(9):1079-82. doi: 10.1111/j.1468-3083.2009.03175.x. Epub 2009 Mar 17. J Eur Acad Dermatol Venereol. 2009. PMID: 19470048

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