Chen-Zhi Hao
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Explore the profile of Chen-Zhi Hao including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
64
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0
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Recent Articles
1.
Yang J, Zhang Y, Wang R, Hao C, Qiu Y, Chi H, et al.
J Med Genet
. 2024 May;
61(8):750-758.
PMID: 38816193
Background And Aims: Variants in underlie a disorder characterised by progressive portal fibrosis, portal hypertension and eventual liver decompensation. We aim to create an animal model to elucidate the pathogenic...
2.
Qiu Y, Wang L, Huang M, Lian M, Wang F, Gong Y, et al.
J Cell Physiol
. 2022 May;
237(6):2713-2723.
PMID: 35621037
TMEM67 (mecklin or MKS3) locates in the transition zone of cilia. Dysfunction of TMEM67 disrupts cilia-related signaling and leads to developmental defects of multiple organs in humans. Typical autosomal recessive...
3.
Li Z, Abuduxikuer K, Wang L, Hao C, Zhang J, Wang M, et al.
Liver Int
. 2022 May;
42(8):1836-1848.
PMID: 35567760
Background And Aims: Alagille syndrome (ALGS) type 2 caused by mutations in NOTCH2 has genotypic and phenotypic heterogeneity. Diagnosis in some atypical patients with isolated hepatic presentation could be missed....
4.
Luan W, Hao C, Li J, Wei Q, Gong J, Qiu Y, et al.
J Med Genet
. 2020 Aug;
58(8):514-525.
PMID: 32737136
Background: For many children with intrahepatic cholestasis and high-serum gamma-glutamyl transferase (GGT) activity, a genetic aetiology of hepatobiliary disease remains undefined. We sought to identify novel genes mutated in children...
5.
Zhang J, Liu L, Gong J, Hao C, Qiu Y, Lu Y, et al.
Hum Mutat
. 2019 Nov;
41(2):502-511.
PMID: 31696999
To assess the spectrum of pediatric clinical phenotypes in TJP2 disease, we reviewed records of our seven patients in whom intrahepatic cholestasis was associated with biallelic TJP2 variants (13; 12...
6.
Qiu Y, Liu T, Abuduxikuer K, Hao C, Gong J, Zhang M, et al.
Hum Mutat
. 2019 Sep;
40(12):2247-2257.
PMID: 31479177
The typical phenotype of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome involves three cardinal symptoms as the name describes, harboring biallelic mutations on VPS33B or VIPAS39. Except for ARC syndrome,...
7.
Liu T, Wang R, Han J, Hao C, Qiu Y, Yan Y, et al.
Liver Int
. 2018 Feb;
38(9):1676-1685.
PMID: 29412511
Background & Aims: Genetic defects causing dysfunction in bile salt export pump (BSEP/ABCB11) lead to liver diseases. ABCB11 mutations alter the bile acid metabolome. We asked whether profiling plasma bile...
8.
Gong J, Setchell K, Zhao J, Zhang W, Wolfe B, Lu Y, et al.
J Pediatr Gastroenterol Nutr
. 2017 Sep;
65(5):561-568.
PMID: 28937538
Objectives: Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded by CYP27A1), a key enzyme in the bile acid synthesis pathway. CTX usually presents as neurologic disease...