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TJP2 hepatobiliary disorders: Novel variants and clinical diversity

Human mutation, 2020-02, Vol.41 (2), p.502-511

2020

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

Liver international, 2020-11, Vol.40 (11), p.2788-2796

2020

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NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.171-171, Article 171

2024

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

Liver international, 2022-08, Vol.42 (8), p.1836-1848

2022

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

Journal of cellular physiology, 2022-06, Vol.237 (6), p.2713-2723

2022

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

Human mutation, 2023-07, Vol.2023, p.1-12

2023

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

Journal of medical genetics, 2021-08, Vol.58 (8), p.514-525

2021

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

Hepatology research, 2020-11, Vol.50 (11), p.1306-1315

2020

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

World journal of pediatrics : WJP, 2023-07, Vol.19 (7), p.652-662

2023

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

Frontiers in endocrinology (Lausanne), 2019-06, Vol.10, p.359

2019

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

Orphanet journal of rare diseases, 2024-06, Vol.19 (1), p.225-13

2024

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

Journal of clinical and translational hepatology, 2024-02, Vol.12 (2), p.151-161

2024

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Designing Impedance Networks Converters

1st ed. 2018 edition., 2017

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Recurrent AKR1D1 c.580-13T>A Variant

The Journal of molecular diagnostics : JMD, 2023-04, Vol.25 (4), p.227-233

2023

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Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase Deficiency

The Journal of molecular diagnostics : JMD, 2023-04, Vol.25 (4), p.227-233

2023

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Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ 4 -3-Oxosteroid-5β-Reductase Deficiency

The Journal of molecular diagnostics : JMD, 2023-04, Vol.25 (4), p.227

2023

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

Frontiers in endocrinology, 2019, Vol.10, p.359-359

2019

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Diploid and tetraploid genomes of Acorus and the evolution of monocots

Nature communications, 2023-06, Vol.14 (1), p.3661-3661, Article 3661

2023

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Regulation of depressive‐like behaviours by palmitoylation: Role of AKAP150 in the basolateral amygdala

British journal of pharmacology, 2024-07, Vol.181 (13), p.1897-1915

2024

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The impact of the chalcogen-substitution element and initial spectroscopic state on excited-state relaxation pathways in nucleobase photosensitizers: a combination of static and dynamic studies

Physical chemistry chemical physics : PCCP, 2023-10, Vol.25 (4), p.27756-27765

2023

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The Phoebe genome sheds light on the evolution of magnoliids

Horticulture research, 2020, Vol.7 (1), Article 146

2020

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Progress on Catalytic Systems Used in Click Polymerization

Macromolecular rapid communications., 2018-06, Vol.39 (11), p.e1800098-n/a

2018

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Cough Inhibition Activity of Schisandra chinensis in Guinea Pigs

Journal of medicinal food, 2021-04, Vol.24 (4), p.348-357

2021

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Cyano-functionalized bis-carbazole derivatives for high contrast electrochromism

Dyes and pigments, 2024-07, Vol.226, p.112117, Article 112117

2024

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Acid-base responsive multifunctional poly(formyl sulfide)s through a facile catalyst-free click polymerization of aldehyde-activated internal diynes and dithiols

Chemical science (Cambridge), 2023-10, Vol.14 (39), p.1718-1726

2023

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TJP2 hepatobiliary disorders: Novel variants and clinical diversity

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

NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death

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

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

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

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

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

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

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

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

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

Designing Impedance Networks Converters

Recurrent AKR1D1 c.580-13T>A Variant

Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase Deficiency

Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ 4 -3-Oxosteroid-5β-Reductase Deficiency

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

Diploid and tetraploid genomes of Acorus and the evolution of monocots

Regulation of depressive‐like behaviours by palmitoylation: Role of AKAP150 in the basolateral amygdala

The impact of the chalcogen-substitution element and initial spectroscopic state on excited-state relaxation pathways in nucleobase photosensitizers: a combination of static and dynamic studies

The Phoebe genome sheds light on the evolution of magnoliids

Progress on Catalytic Systems Used in Click Polymerization

Cough Inhibition Activity of Schisandra chinensis in Guinea Pigs

Cyano-functionalized bis-carbazole derivatives for high contrast electrochromism

Acid-base responsive multifunctional poly(formyl sulfide)s through a facile catalyst-free click polymerization of aldehyde-activated internal diynes and dithiols

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