Chen X - Search Results

1

Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.

Lin Y, Chen X, Xie B, Guan Z, Chen X, Li X, Yi P, Du R, Mei H, Liu L, Zhang W, Zeng C. Lin Y, et al. Among authors: chen x. Front Genet. 2023 Mar 21;14:1085210. doi: 10.3389/fgene.2023.1085210. eCollection 2023. Front Genet. 2023. PMID: 37025457 Free PMC article.

2

Congenital cataract with LSS gene mutations: a new case report.

Chen X, Liu L. Chen X, et al. J Pediatr Endocrinol Metab. 2017 Oct 26;30(11):1231-1235. doi: 10.1515/jpem-2017-0101. J Pediatr Endocrinol Metab. 2017. PMID: 29016354

3

Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.

Liu Z, Zhao X, Sheng H, Cai Y, Yin X, Chen X, Su L, Lu Z, Zeng C, Li X, Liu L. Liu Z, et al. Among authors: chen x. Am J Med Genet A. 2018 Mar;176(3):589-596. doi: 10.1002/ajmg.a.38601. Epub 2018 Jan 23. Am J Med Genet A. 2018. PMID: 29359854

4

Novel mutations in a Chinese family with two patients with succinic semialdehyde dehydrogenase deficiency.

Chen XD, Lin YT, Jiang MY, Li XZ, Li D, Hu H, Liu L. Chen XD, et al. Gynecol Endocrinol. 2020 Oct;36(10):929-933. doi: 10.1080/09513590.2020.1744555. Epub 2020 Mar 30. Gynecol Endocrinol. 2020. PMID: 32223457 Free article.

5

Chinese family with Blau syndrome: Mutated NOD2 allele transmitted from the father with de novo somatic and germ line mosaicism.

Lin Y, Zeng C, Chen X, Li T, Liu H, Liu H, Hu H, Liu L. Lin Y, et al. Among authors: chen x. J Dermatol. 2020 Nov;47(11):e395. doi: 10.1111/1346-8138.15563. Epub 2020 Sep 2. J Dermatol. 2020. PMID: 32881073 No abstract available.

6

The EGFR-P38 MAPK axis up-regulates PD-L1 through miR-675-5p and down-regulates HLA-ABC via hexokinase-2 in hepatocellular carcinoma cells.

Liu Z, Ning F, Cai Y, Sheng H, Zheng R, Yin X, Lu Z, Su L, Chen X, Zeng C, Wang H, Liu L. Liu Z, et al. Among authors: chen x. Cancer Commun (Lond). 2021 Jan;41(1):62-78. doi: 10.1002/cac2.12117. Epub 2021 Jan 1. Cancer Commun (Lond). 2021. PMID: 34236149 Free PMC article.

7

A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.

Chen X, Liu L, Zeng C. Chen X, et al. BMC Pediatr. 2022 Apr 5;22(1):180. doi: 10.1186/s12887-022-03259-5. BMC Pediatr. 2022. PMID: 35382784 Free PMC article.

8

The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.

Lin Y, Zhang W, Li D, Chen X, Lu Z, Li X, Li X. Lin Y, et al. Among authors: chen x. Clin Genet. 2022 Sep;102(3):246-247. doi: 10.1111/cge.14178. Epub 2022 Jun 26. Clin Genet. 2022. PMID: 35754111

9

Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait.

Lin Y, Chen X, Liang C, Li D, Liu L, Li X. Lin Y, et al. Among authors: chen x. Eur J Ophthalmol. 2023 Sep;33(5):NP1-NP4. doi: 10.1177/11206721221132874. Epub 2022 Oct 19. Eur J Ophthalmol. 2023. PMID: 36262071

10

Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency.

Chen X, Peng M, Cai Y, Zhou C, Liu L. Chen X, et al. BMC Neurosci. 2022 Dec 16;23(1):77. doi: 10.1186/s12868-022-00755-3. BMC Neurosci. 2022. PMID: 36527006 Free PMC article.

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