نتائج البحث - "Zhong-Die Li"

1

Academic Journal

Early onset and liver failure indicating poor prognosis of infant liver failure syndrome type 1

المؤلفون: Shu-Yuan Li, Jia-Yan Feng, Zhong-Die Li, Teng Liu

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Acute liver failure, Genotype, Survival analysis, LARS1, Leucyl-tRNA synthase 1, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/76ec9ef960014e0bae8c2132648f0112

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2

Academic Journal

NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death

المؤلفون: Zhong-Die Li, Yu-Chuan Li, Jing-Zhao, Jian-She Wang, Xin-Bao Xie

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: NR1H4, low-γ-glutamyl transferase (GGT) cholestasis, Liver transplantation, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/5c44efdb6fbb44ec864d3020c7550daa

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3

Academic Journal

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

المؤلفون: Kuerbanjiang Abuduxikuer, Zhong-Die Li, Xin-Bao Xie, Yu-Chuan Li, Jing Zhao, Jian-She Wang

المصدر: Frontiers in Endocrinology, Vol 10 (2019)

مصطلحات موضوعية: melanocortin 2 receptor (MC2R), familial glucocorticoid deficiency (FGD) type 1, cholestasis, skin hyperpigmentation, hypoglycemia, cortisol, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fendo.2019.00359/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/0eeed315353b4263bb4960c03b875e64

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4

Recurrent AKR1D1 c.580-13T>A Variant

المؤلفون: 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

المصدر: The Journal of Molecular Diagnostics. 25:227-233

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b643245ed6cd0836cacdeeb3ed07e14c
https://doi.org/10.1016/j.jmoldx.2023.01.004

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5

Academic Journal

Comprehensive Bile Acid Profiling of ABCB4-mutated Patients and the Prognostic Role of Taurine-conjugated 3α,6α,7α,12α-Tetrahydroxylated Bile Acid in Cholestasis.

المؤلفون: Teng Liu, Ren-Xue Wang, Jun Han, Zhong-Die Li, Sheps, Jonathan A., Li-Juan Zheng, Xiao-Xiao Xu, Ling, Victor, Jian-She Wang

المصدر: Journal of Clinical & Translational Hepatology; Feb2024, Vol. 12 Issue 2, p151-161, 11p

مصطلحات موضوعية: FARNESOID X receptor, ALPHA 1-antitrypsin deficiency, PROTEIN kinase C, RECEIVER operating characteristic curves, BILE acids, GAMMA-glutamyltransferase, CHOLANGITIS

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6

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients

المؤلفون: 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

المصدر: Liver International. 42:1836-1848

مصطلحات موضوعية: Alagille Syndrome, Phenotype, Virulence, Hepatology, Mutation, Humans, Receptor, Notch2, Jagged-1 Protein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa55b95ec76592a9c48d36d5ec4a9d16
https://doi.org/10.1111/liv.15292

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7

Academic Journal

Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis

المؤلفون: Li Wang, Yi-Ling Qiu, Kuerbanjiang Abuduxikuer, Neng-Li Wang, Zhong-Die Li, Ye Cheng, Yi Lu, Xin-Bao Xie, Qing-He Xing, Jian-She Wang

Relation: https://doi.org/10.1155/2023/8848362

الاتاحة: https://doi.org/10.1155/2023/8848362

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8

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

المؤلفون: 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

المصدر: Journal of Medical Genetics. 58:514-525

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7412831acda87bc2eddb3c761623849f
https://doi.org/10.1136/jmedgenet-2019-106706

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9

Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis

المؤلفون: 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

المصدر: Journal of cellular physiologyREFERENCES. 237(6)

مصطلحات موضوعية: Liver Cirrhosis, Cholestasis, Phenotype, Physiology, Clinical Biochemistry, Genetic Diseases, Inborn, Humans, Membrane Proteins, Cell Biology, gamma-Glutamyltransferase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d164a7f384a3d91a4fadf710ccdbbbf4
https://pubmed.ncbi.nlm.nih.gov/35621037

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10

Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome

المؤلفون: 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

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce77274798da72b5f1ea131fc597118
https://doi.org/10.21203/rs.3.rs-1605055/v1

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11

ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression

المؤلفون: Yi Lu, Lian Chen, Ye Yang, Jian-She Wang, Li-Ting Li, Xin-Bao Xie, Jia-Yan Feng, A S Knisely, Zhong-Die Li

المصدر: Liver international : official journal of the International Association for the Study of the LiverREFERENCES. 40(11)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a36b717a0b6db04220a071a654672fc8
https://pubmed.ncbi.nlm.nih.gov/32808743

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12

NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients

المؤلفون: Jian-She Wang, Yi-Ling Qiu, Kuerbanjiang Abuduxikuer, Jing Zhang, Ye Yang, Yuge Huang, Xin-Bao Xie, Yi Lu, Zhong Die Li

المصدر: Hepatology research : the official journal of the Japan Society of HepatologyReferences. 50(11)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b89c019381bff836c3e3c6deb8e445f3
https://pubmed.ncbi.nlm.nih.gov/32812336

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13

Biallelic loss-of-function

المؤلفون: Weisha, Luan, Chen-Zhi, Hao, Jia-Qi, Li, Qing, Wei, Jing-Yu, Gong, Yi-Ling, Qiu, Yi, Lu, Cong-Huan, Shen, Qiang, Xia, Xin-Bao, Xie, Mei-Hong, Zhang, Kuerbanjiang, Abuduxikuer, Zhong-Die, Li, Li, Wang, Qing-He, Xing, A S, Knisely, Jian-She, Wang

المصدر: Journal of medical genetics. 58(8)

مصطلحات موضوعية: Liver Cirrhosis, Oncogene Proteins, Cell Line, Tumor, Cholangitis, Sclerosing, Mutation, Exome Sequencing, Genetic Diseases, Inborn, Humans, Amino Acid Sequence, Cholestasis, Intrahepatic, Alleles, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ec21a1156d8ea194dcbd82fb5db5c778
https://pubmed.ncbi.nlm.nih.gov/32737136

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14

TJP2 hepatobiliary disorders: Novel variants and clinical diversity

المؤلفون: Jing Zhang, A S Knisely, Lang-Li Liu, Jia-Qi Li, Jing-Yu Gong, Meng-Xuan Wang, Zhong-Die Li, Qinghe Xing, Yi Lu, Jian-She Wang, Chen-Zhi Hao, Jia-Yan Feng, Yi-Ling Qiu

المصدر: Human mutationREFERENCES. 41(2)

مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.medical_treatment, Biopsy, RNA Splicing, Hepatobiliary Disorder, Cholestasis, Intrahepatic, Liver transplantation, Biology, Malignancy, Zonula Occludens-2 Protein, Gastroenterology, 03 medical and health sciences, Exon, Cholestasis, Internal medicine, Exome Sequencing, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Age of Onset, Genetics (clinical), Alleles, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Infant, Newborn, Computational Biology, Genetic Variation, Infant, medicine.disease, Ursodeoxycholic acid, Pedigree, Amino Acid Substitution, Mutation, Female, Minigene, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3053f414e655f93329fb51f478f25768
https://pubmed.ncbi.nlm.nih.gov/31696999

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15

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature

المؤلفون: Jian-She Wang, Yu-Chuan Li, Xin-Bao Xie, Zhong-Die Li, Jing Zhao, Kuerbanjiang Abuduxikuer

المصدر: Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 10 (2019)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, endocrine system, Endocrinology, Diabetes and Metabolism, linear overgrowth, adrenocorticotropic hormone (ACTH), 030209 endocrinology & metabolism, Case Report, Adrenocorticotropic hormone, Hypoglycemia, cortisol, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Endocrine system, familial glucocorticoid deficiency (FGD) type 1, Hypertelorism, lcsh:RC648-665, business.industry, Adrenal cortex, Thyroid, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, hypoglycemia, melanocortin 2 receptor (MC2R), skin hyperpigmentation, Skin hyperpigmentation, medicine.symptom, Melanocortin, business, cholestasis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fffc5dcc90ae9e107c50dcbd99ab2c9a
http://europepmc.org/articles/PMC6563654

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16

Biallelic Loss-of-Function ZFYVE19 Mutations Are Associated with Congenital Hepatic Fibrosis, Sclerosing Cholangiopathy, and High-GGT Cholestasis

المؤلفون: Jing-Yu Gong, Yi Lu, Qing Wei, Yi-Ling Qiu, A S Knisely, Cong-Huan Shen, Jian-She Wang, Jia-Qi Li, Zhong-Die Li, Qing-He Xing, Qiang Xia, Weisha Luan, Chen-Zhi Hao, Xin-Bao Xie, Kuerbanjiang Abuduxikuer, Mei-Hong Zhang, Li Wang

المصدر: SSRN Electronic Journal.

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, medicine.medical_treatment, Hepatobiliary disease, Liver transplantation, medicine.disease, Ductal Plate Malformation, Ciliopathy, Cholestasis, medicine, Portal hypertension, Congenital hepatic fibrosis, Hepatectomy, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::706a8c9dab355463253265894e8bb6f2
https://doi.org/10.2139/ssrn.3439573

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17

Image

Image_1_Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.PNG

المؤلفون: Kuerbanjiang Abuduxikuer, Zhong-Die Li, Xin-Bao Xie, Yu-Chuan Li, Jing Zhao, Jian-She Wang

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, melanocortin 2 receptor (MC2R), familial glucocorticoid deficiency (FGD) type 1, cholestasis, skin hyperpigmentation, hypoglycemia, cortisol, adrenocorticotropic hormone (ACTH), linear overgrowth

Relation: https://figshare.com/articles/figure/Image_1_Novel_Melanocortin_2_Receptor_Variant_in_a_Chinese_Infant_With_Familial_Glucocorticoid_Deficiency_Type_1_Case_Report_and_Review_of_Literature_PNG/8236022

الاتاحة: https://doi.org/10.3389/fendo.2019.00359.s001
https://figshare.com/articles/figure/Image_1_Novel_Melanocortin_2_Receptor_Variant_in_a_Chinese_Infant_With_Familial_Glucocorticoid_Deficiency_Type_1_Case_Report_and_Review_of_Literature_PNG/8236022

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18

Academic Journal

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.

المؤلفون: Weisha Luan, Chen-Zhi Hao, Jia-Qi Li, Qing Wei, Jing-Yu Gong, Yi-Ling Qiu, Yi Lu, Cong-Huan Shen, Qiang Xia, Xin-Bao Xie, Mei-Hong Zhang, Kuerbanjiang Abuduxikuer, Zhong-Die Li, Li Wang, Qing-He Xing, Knisely, A. S., Jian-She Wang

المصدر: Journal of Medical Genetics; Aug2021, Vol. 58 Issue 8, p514-525, 12p

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