Huixiao Wu
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Explore the profile of Huixiao Wu including associated specialties, affiliations and a list of published articles.
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12
Citations
49
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Recent Articles
1.
Wu H, Ying H, Zhao W, Sun Y, Wang Y, Chen X, et al.
J Clin Endocrinol Metab
. 2024 Mar;
109(9):2242-2255.
PMID: 38442738
Background: X-linked hypophosphatemia (XLHR) is the most common genetic form of hypophosphatemic rickets (HR), which is caused by phosphate regulating endopeptidase homolog X-linked (PHEX) gene mutation. At present, the genotype-phenotype...
2.
Liu L, Shi Y, Fan X, Yao Y, Wu W, Tian Y, et al.
Orphanet J Rare Dis
. 2024 Mar;
19(1):99.
PMID: 38438867
Background: Most genetic skeletal disorders (GSD) were complex, disabling and life-threatening without effective diagnostic and treatment methods. However, its impacts on health system have not been well studied. The study...
3.
Shi Y, Dong H, Sun S, Wu X, Fang J, Zhao J, et al.
Clin Mol Hepatol
. 2023 Dec;
30(1):80-97.
PMID: 38061333
Background/aims: To evaluate the causal correlation between complement components and non-viral liver diseases and their potential use as druggable targets. Methods: We conducted Mendelian randomization (MR) to assess the causal...
4.
Yu H, Li C, Wu H, Xia W, Wang Y, Zhao J, et al.
Orphanet J Rare Dis
. 2023 Aug;
18(1):234.
PMID: 37559063
Osteogenesis imperfecta (OI) is a connective tissue disorder affecting the skeleton and other organs, which has multiple genetic patterns, numerous causative genes, and complex pathogenic mechanisms. The previous classifications lack...
5.
Wu H, Shu M, Liu C, Zhao W, Li Q, Song Y, et al.
BMJ Open Diabetes Res Care
. 2023 Jan;
11(1).
PMID: 36634979
Introduction: Mutations of gene were first reported to cause a new type of maturity-onset diabetes of the young (MODY) denoted as MODY8 and then were also found in patients with...
6.
Li Z, Wu H, Wei S, Liu M, Shi Y, Li M, et al.
Front Med
. 2022 Nov;
16(6):932-945.
PMID: 36370249
The dysfunction of Na-Cl cotransporter (NCC) caused by mutations in solute carrier family12, member 3 gene (SLC12A3) primarily causes Gitelman syndrome (GS). In identifying the pathogenicity of R158Q and G212S...
7.
Shu M, Wu H, Wei S, Shi Y, Li Z, Cheng Y, et al.
Int J Endocrinol
. 2022 Oct;
2022:2504660.
PMID: 36267363
Background: Kallmann syndrome (KS) is a rare genetic disease characterized by the reproductive system and olfactory dysplasia due to the defective migration of gonadotropin-releasing hormone (GnRH) neurons. However, this disorder...
8.
Wu H, Wang Y, Chen X, Yao Y, Zhao W, Fang L, et al.
Oxid Med Cell Longev
. 2022 Jul;
2022:8956636.
PMID: 35832491
Mutations of filamin B () gene can lead to a spectrum of autosomal skeletal malformations including spondylocarpotarsal syndrome (SCT), Larsen syndrome (LRS), type I atelosteogenesis (AO1), type III atelosteogenesis (AO3),...
9.
Wu H, Wang S, Li G, Yao Y, Wang N, Sun X, et al.
Mol Genet Genomic Med
. 2021 Mar;
9(5):e1668.
PMID: 33764685
Background: Schmid-type metaphyseal chondrodysplasia (SMCD) is a rare autosomal dominant skeletal dysplasia caused by heterozygous mutations in COL10A1, the gene which encodes collagen type X alpha 1 chain. However, its...
10.
Ying H, Sun Y, Wu H, Jia W, Guan Q, He Z, et al.
Oxid Med Cell Longev
. 2020 Dec;
2020:2358719.
PMID: 33299522
Some mutations in affect the sense of smell while others do not, resulting in Kallmann syndrome (KS) and normosmic isolated hypogonadotropic hypogonadism (nIHH), respectively. The underlying mechanism is still unclear....