Associated Papers
Generation and characterization of a mouse model for bile salt export pump deficiency with the p.E297G mutation.
Felzen A et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2026
Spanish clinical practice guidelines for the diagnosis and management of cholestatic liver diseases in adult and pediatric population: Joint report from AEEH and SEGHNP.
Díaz-González Á et al.
Gastroenterologia Y Hepatologia, 2025
New hope in treating progressive familial intrahepatic cholestasis in children.
Mkarem LE et al.
World Journal of Hepatology, 2025
Pretreatment serum bile acid composition and predictability of subsequent response to odevixibat in patients with bile salt export pump (BSEP) deficiency.
Nomden M et al.
Hepatology (baltimore, Md.), 2025
An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Bell EL et al.
Journal of Lipid Research, 2025
Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2.
Lapalus M et al.
International Journal of Molecular Sciences, 2025
A structural and mechanistic model for BSEP dysfunction in PFIC2 cholestatic disease.
Gruget C et al.
Communications Biology, 2025
Early plasmapheresis in type 2 benign recurrent intrahepatic cholestasis: A case report and review of literature.
Heyerick L et al.
World Journal of Hepatology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
The effect of 4-phenylbutyrate and sodium 4-phenylbutyrate on genetic mutation diseases: A meta-analysis.
Tang W et al.
Medicine, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
ABC transporters involved in respiratory and cholestatic diseases: From rare to very rare monogenic diseases.
Lakli M et al.
Biochemical Pharmacology, 2024
EASL Clinical Practice Guidelines on genetic cholestatic liver diseases.
Unknown Author
Journal of Hepatology, 2024
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Khabou B et al.
Annals of Human Genetics, 2024
Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2.
Kondou H et al.
Orphanet Journal of Rare Diseases, 2024
Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.
Pfister ED et al.
Hepatology Communications, 2023
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.
Felzen A et al.
Jhep Reports : Innovation in Hepatology, 2023
Progressive familial intrahepatic cholestasis-outcome and time to transplant after biliary diversion according to genetic subtypes.
Sahloul A et al.
Frontiers in Surgery, 2023
Progressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center.
Alsohaibani FI et al.
International Journal of Hepatology, 2023
Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.
Langenberg KPS et al.
European Journal of Cancer (oxford, England : 1990), 2022
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Vitale G et al.
Cancers, 2022
Cholestatic liver diseases of genetic etiology: Advances and controversies.
Ibrahim SH et al.
Hepatology (baltimore, Md.), 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum.
Bakır A et al.
Annals of Human Genetics, 2022
Extrahepatic manifestations of progressive familial intrahepatic cholestasis syndromes: Presentation of a case series and literature review.
Pfister ED et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults.
Jüngst C et al.
Digestive Diseases (basel, Switzerland), 2022
The spectrum of Progressive Familial Intrahepatic Cholestasis diseases: Update on pathophysiology and emerging treatments.
Felzen A et al.
European Journal of Medical Genetics, 2021
Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.
Hertel PM et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
Transient hyperphosphatasemia following pediatric liver transplantation in a patient with hepatic and skeletal abnormalities.
Murthy V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Molecular Regulation of Canalicular ABC Transporters.
Ben Saad A et al.
International Journal of Molecular Sciences, 2021
Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation.
Akbulut UE et al.
Turkish Archives of Pediatrics, 2021
Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis.
Bekdas M et al.
Journal of Pediatric Genetics, 2020
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
Li LT et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Nasobiliary drainage prior to surgical biliary diversion in progressive familial intrahepatic cholestasis type II.
Jannone G et al.
European Journal of Pediatrics, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020