Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Zhong-Die Li"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Infantile liver failure syndrome type 1 (ILFS1, OMIM #615,438), caused by leucyl-tRNA synthase 1 (LARS1, OMIM *151,350) deficiency, is a rare autosomal-recessive disorder. The clinical manifestations, molecular-genetic features, a
Externí odkaz:
https://doaj.org/article/76ec9ef960014e0bae8c2132648f0112
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Background Clinical studies on progressive familial intrahepatic cholestasis (PFIC) type 5 caused by mutations in NR1H4 are limited. Methods New patients with biallelic NR1H4 variants from our center and all patients from literature were ret
Externí odkaz:
https://doaj.org/article/5c44efdb6fbb44ec864d3020c7550daa
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
Familial glucocorticoid deficiency type 1 (FGD1) is an autosomal recessive disorder caused by mutations in the melanocortin 2 receptor (MC2R) gene, characterized by a low or undetectable serum cortisol level and a high adrenocorticotropic hormone (AC
Externí odkaz:
https://doaj.org/article/0eeed315353b4263bb4960c03b875e64
Autor:
Jing Zhao, Yi-Ling Qiu, Li Wang, Zhong-Die Li, Xin-Bao Xie, Yi Lu, Kenneth D.R. Setchell, Ye Cheng, Qing-He Xing, Jian-She Wang
Publikováno v:
The Journal of Molecular Diagnostics. 25:227-233
Autor:
Teng Liu, Ren-Xue Wang, Jun Han, Zhong-Die Li, Sheps, Jonathan A., Li-Juan Zheng, Xiao-Xiao Xu, Ling, Victor, Jian-She Wang
Publikováno v:
Journal of Clinical & Translational Hepatology; Feb2024, Vol. 12 Issue 2, p151-161, 11p
Autor:
Zhong‐Die Li, Kuerbanjiang Abuduxikuer, Li Wang, Chen‐Zhi Hao, Jing Zhang, Meng‐Xuan Wang, Li‐Ting Li, Yi‐Ling Qiu, Xin‐Bao Xie, Yi Lu, Jian‐She Wang
Publikováno v:
Liver International. 42:1836-1848
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.Using 2087 patients with paediatric liver manifestations,
Autor:
Yi‐Ling Qiu, Li Wang, Min Huang, Min Lian, Fengbin Wang, Ying Gong, Xiong Ma, Chen‐Zhi Hao, Jing Zhang, Zhong‐Die Li, Qing‐He Xing, Muqing Cao, Jian‐She Wang
Publikováno v:
Journal of cellular physiologyREFERENCES. 237(6)
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 TMEM67 defects cause partial overlap
Autor:
Meng-Xuan Wang, Jun Han, Teng Liu, Ren-Xue Wang, Li-Ting Li, Zhong-Die Li, Jun-Cong Yang, Lang-Li Liu, Yi Lu, Xin-Bao Xie, Jing-Yu Gong, Shi-Yu Li, Lei Zhang, Victor Ling, Jian-She Wang
The liver manifestations of Alagille syndrome (ALGS) are highly variable, and factors affecting its prognosis are poorly understood. We asked whether or not the composition of bile acids in ALGS patients with good clinical outcomes differs from those
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce77274798da72b5f1ea131fc597118
https://doi.org/10.21203/rs.3.rs-1605055/v1
https://doi.org/10.21203/rs.3.rs-1605055/v1
Autor:
A S Knisely, Yi Lu, Qing Wei, Cong-Huan Shen, Xin-Bao Xie, Qing-He Xing, Chen-Zhi Hao, Jia-Qi Li, Li Wang, Jing-Yu Gong, Qiang Xia, Weisha Luan, Kuerbanjiang Abuduxikuer, Zhong-Die Li, Mei-Hong Zhang, Yi-Ling Qiu, Jian-She Wang
Publikováno v:
Journal of Medical Genetics. 58:514-525
BackgroundFor 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 with idiopathic
Autor:
Yi Lu, Lian Chen, Ye Yang, Jian-She Wang, Li-Ting Li, Xin-Bao Xie, Jia-Yan Feng, A S Knisely, Zhong-Die Li
Publikováno v:
Liver international : official journal of the International Association for the Study of the LiverREFERENCES. 40(11)
Background & aims ABCB11 deficiency presenting in infancy is believed generally to manifest as persistent/progressive cholestasis. We describe a group of patients with biallelic ABCB11 variants whose disorder manifested as transient neonatal cholesta