Wu H - Search Results

1

Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.

Wu H, Ying H, Zhao W, Sun Y, Wang Y, Chen X, Li G, Yao Y, Xu S, Li T, Fang L, Sun X, Wang N, Xu J, Guan Q, Xia W, Wang L, Gao L, Zhao J, Xu C. Wu H, et al. J Clin Endocrinol Metab. 2024 Aug 13;109(9):2242-2255. doi: 10.1210/clinem/dgae120. J Clin Endocrinol Metab. 2024. PMID: 38442738 Free PMC article.

2

Posttranslational Modification Defects in Fibroblast Growth Factor Receptor 1 as a Reason for Normosmic Isolated Hypogonadotropic Hypogonadism.

Ying H, Sun Y, Wu H, Jia W, Guan Q, He Z, Gao L, Zhao J, Ji Y, Li G, Xu C. Ying H, et al. Among authors: wu h. Oxid Med Cell Longev. 2020 Nov 21;2020:2358719. doi: 10.1155/2020/2358719. eCollection 2020. Oxid Med Cell Longev. 2020. PMID: 33299522 Free PMC article.

3

Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.

Wu H, Wang S, Li G, Yao Y, Wang N, Sun X, Fang L, Jiang X, Zhao J, Wang Y, Xu C. Wu H, et al. Mol Genet Genomic Med. 2021 May;9(5):e1668. doi: 10.1002/mgg3.1668. Epub 2021 Mar 25. Mol Genet Genomic Med. 2021. PMID: 33764685 Free PMC article. Review.

4

Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations.

Wu H, Wang Y, Chen X, Yao Y, Zhao W, Fang L, Sun X, Wang N, Jiang J, Gao L, Zhao J, Xu C. Wu H, et al. Oxid Med Cell Longev. 2022 Jul 4;2022:8956636. doi: 10.1155/2022/8956636. eCollection 2022. Oxid Med Cell Longev. 2022. PMID: 35832491 Free PMC article.

5

Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome.

Shu M, Wu H, Wei S, Shi Y, Li Z, Cheng Y, Fang L, Xu C. Shu M, et al. Among authors: wu h. Int J Endocrinol. 2022 Oct 11;2022:2504660. doi: 10.1155/2022/2504660. eCollection 2022. Int J Endocrinol. 2022. PMID: 36267363 Free PMC article.

6

R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome.

Li Z, Wu H, Wei S, Liu M, Shi Y, Li M, Wang N, Fang L, Xiang B, Gao L, Xu C, Zhao J. Li Z, et al. Among authors: wu h. Front Med. 2022 Dec;16(6):932-945. doi: 10.1007/s11684-022-0963-9. Epub 2022 Nov 12. Front Med. 2022. PMID: 36370249

7

Identification and characterization of novel carboxyl ester lipase gene variants in patients with different subtypes of diabetes.

Wu H, Shu M, Liu C, Zhao W, Li Q, Song Y, Zhang T, Chen X, Shi Y, Shi P, Fang L, Wang R, Xu C. Wu H, et al. BMJ Open Diabetes Res Care. 2023 Jan;11(1):e003127. doi: 10.1136/bmjdrc-2022-003127. BMJ Open Diabetes Res Care. 2023. PMID: 36634979 Free PMC article.

8

Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.

Yu H, Li C, Wu H, Xia W, Wang Y, Zhao J, Xu C. Yu H, et al. Among authors: wu h. Orphanet J Rare Dis. 2023 Aug 9;18(1):234. doi: 10.1186/s13023-023-02849-5. Orphanet J Rare Dis. 2023. PMID: 37559063 Free PMC article. Review.

9

Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism.

Wang SS, Zhao WY, Wu HX, Shu M, Yuan JX, Fang L, Xu C. Wang SS, et al. Yi Chuan. 2022 Oct 20;44(10):937-949. doi: 10.16288/j.yczz.22-196. Yi Chuan. 2022. PMID: 36384729

10

TSH promotes adiposity by inhibiting the browning of white fat.

Zhang J, Wu H, Ma S, Gao L, Yu C, Jing F, Zhao J. Zhang J, et al. Among authors: wu h. Adipocyte. 2020 Dec;9(1):264-278. doi: 10.1080/21623945.2020.1783101. Adipocyte. 2020. PMID: 32579056 Free PMC article.

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