Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy

Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

(2023) Pagna Sok et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Association analysis and functional follow-up identified common variants of JAG1 accounting for risk to biliary atresia

(2023) Mei-Rong Bai et al.   Frontiers in Genetics

Incidence, Impact and Treatment of Ongoing CMV Infection in Patients with Biliary Atresia in Four European Centres

(2022) Björn Fischler et al.   Journal of Clinical Medicine

Systematic review: The quality of life of patients with biliary atresia

(2022) Melanie Le et al.   JOURNAL OF PEDIATRIC SURGERY

Direct Bilirubin and Risk of Biliary Atresia

(2022) Fang-Min Liao et al.   PEDIATRICS

Role of long non-coding RNA-adducin 3 antisense RNA1 in liver fibrosis of biliary atresia

(2022) Yongqin Ye et al.   Bioengineered

Impact of EFEMP1 on the survival outcome of biliary atresia in Thai infants

(2022) Wison Laochareonsuk et al.   Scientific Reports

Polycystic liver disease genes: Practical considerations for genetic testing

(2021) Melissa M. Boerrigter et al.   European Journal of Medical Genetics

Biliary organoids uncover delayed epithelial development and barrier function in biliary atresia

(2021) Surya P. Amarachintha et al.   HEPATOLOGY

Genomic frontiers in congenital heart disease

(2021) Sarah U. Morton et al.   Nature Reviews Cardiology

Elevation of microRNA-214 is associated with progression of liver fibrosis in patients with biliary atresia

(2021) Tomohisa Yoneyama et al.   PEDIATRIC SURGERY INTERNATIONAL

Mechanisms of Impaired Lung Development and Ciliation in Mannosidase-1-Alpha-2 (Man1a2) Mutants

(2021) Mylarappa Ningappa et al.   Frontiers in Physiology

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

(2021) Wai-Yee Lam et al.   EBioMedicine

Exome Sequencing in Individuals with Isolated Biliary Atresia

(2020) Ramakrishnan Rajagopalan et al.   Scientific Reports

Signaling in the primary cilium through the lens of the Hedgehog pathway

(2020) Eduardo D. Gigante et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Association of common variation in ADD3 and GPC1 with biliary atresia susceptibility

(2020) Mei-Rong Bai et al.   Aging-US

From GWAS to Function: Using Functional Genomics to Identify the Mechanisms Underlying Complex Diseases

(2020) Eddie Cano-Gamez et al.   Frontiers in Genetics

PDGFA gene rs9690350 polymorphism increases biliary atresia risk in Chinese children

(2020) Fei Liu et al.   BIOSCIENCE REPORTS

Biliary atresia in twins: a systematic review and meta-analysis

(2020) Xiaodan Xu et al.   PEDIATRIC SURGERY INTERNATIONAL

A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling

(2020) Amirpouyan Namavarian et al.   Molecular Genetics & Genomic Medicine

Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome

(2019) John-Paul Berauer et al.   HEPATOLOGY

Suppressing microRNA-29c promotes biliary atresia-related fibrosis by targeting DNMT3A and DNMT3B

(2019) Jian-yao Wang et al.   CELLULAR & MOLECULAR BIOLOGY LETTERS

Nationwide population‐based study showed that the rotavirus vaccination had no impact on the incidence of biliary atresia in Korea

(2019) Jee Hyun Lee et al.   ACTA PAEDIATRICA

The Small GTPase Arf6: An Overview of Its Mechanisms of Action and of Its Role in Host–Pathogen Interactions and Innate Immunity

(2019) Tim Van Acker et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Biliary Atresia as a Disease Starting In Utero

(2019) Krupa R. Mysore et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Leukocyte mitochondrial DNA copy number as a potential biomarker indicating poor outcome in biliary atresia and its association with oxidative DNA damage and telomere length

(2019) Wanvisa Udomsinprasert et al.   MITOCHONDRION

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

(2019) W. Scott Watkins et al.   Nature Communications

The cholangiocyte primary cilium in health and disease

(2018) Adrian P. Mansini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The intragenic epistatic association of ADD3 with biliary atresia in Southern Han Chinese population

(2018) Zhe Wang et al.   BIOSCIENCE REPORTS

BILIARY ATRESIA: Clinical and Research Challenges for the 21st Century

(2018) Jorge A. Bezerra et al.   HEPATOLOGY

Intrahepatic bile duct primary cilia in biliary atresia

(2018) Roberta Frassetto et al.   HEPATOLOGY RESEARCH

MicroRNA-29b/142-5p contribute to the pathogenesis of biliary atresia by regulating the IFN-γ gene

(2018) Yifan Yang et al.   Cell Death & Disease

Mitochondrial Mutations in Cholestatic Liver Disease with Biliary Atresia

(2018) Hong Koh et al.   Scientific Reports

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

(2018) Carsten Bergmann   Frontiers in Pediatrics

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

(2018) Ying Chen et al.   PLoS Genetics

Genetics in biliary atresia

(2018) Muriel Girard et al.   CURRENT OPINION IN GASTROENTEROLOGY

Epistatic Association of CD14 and NOTCH2 Genetic Polymorphisms with Biliary Atresia in a Southern Chinese Population

(2018) Zefeng Lin et al.   Molecular Therapy-Nucleic Acids

Adducins inhibit lung cancer cell migration through mechanisms involving regulation of cell-matrix adhesion and cadherin-11 expression

(2018) Susana Lechuga et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Association of common genetic variants in VEGFA with biliary atresia susceptibility in Northwestern Han Chinese

(2017) Bailing Liu et al.   GENE

Association of polymorphism in the VEGFA gene 3′-UTR +936T/C with susceptibility to biliary atresia in a Southern Chinese Han population

(2017) Fei Liu et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases

(2017) Emilie Cornec-Le Gall et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Somatic mutation, a cause of biliary atresia: A hypothesis

(2017) Alexandre Fabre et al.   MEDICAL HYPOTHESES

Extracellular ISG15 Signals Cytokine Secretion through the LFA-1 Integrin Receptor

(2017) Caleb D. Swaim et al.   MOLECULAR CELL

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

MicroRNA-155 modulates bile duct inflammation by targeting the suppressor of cytokine signaling 1 in biliary atresia

(2017) Rui Zhao et al.   PEDIATRIC RESEARCH

Downregulation of microRNA-145 may contribute to liver fibrosis in biliary atresia by targeting ADD3

(2017) Yongqin Ye et al.   PLoS One

Association between Promoter Hypomethylation and Overexpression of Autotaxin with Outcome Parameters in Biliary Atresia

(2017) Wanvisa Udomsinprasert et al.   PLoS One

Foxp3 promoter methylation impairs suppressive function of regulatory T cells in biliary atresia

(2016) Kang Li et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Effect of microRNA-155 on the Interferon- Gamma Signaling Pathway in Biliary Atresia

(2016) Yu-An Hsu   CHINESE JOURNAL OF PHYSIOLOGY

Genetics of human Bardet-Biedl syndrome, an updates

(2016) S.A. Khan et al.   CLINICAL GENETICS

MicroRNA-499 Rs3746444 polymorphism and biliary atresia

(2016) Yuhua Shan et al.   DIGESTIVE AND LIVER DISEASE

DCDC2Mutations Cause Neonatal Sclerosing Cholangitis

(2016) Muriel Girard et al.   HUMAN MUTATION

Biliary atresia: A comprehensive review

(2016) Bhanumathi Lakshminarayanan et al.   JOURNAL OF AUTOIMMUNITY

Identification of Circulating MicroRNAs in Biliary Atresia by Next-Generation Sequencing

(2016) Xiaofang Peng et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Loss of a Candidate Biliary Atresia Susceptibility Gene, add3a, Causes Biliary Developmental Defects in Zebrafish

(2016) Vivian Tang et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Common genetic variants of GPC1 gene reduce risk of biliary atresia in a Chinese population

(2016) Juntao Ke et al.   JOURNAL OF PEDIATRIC SURGERY

Total Serum Bilirubin within 3 Months of Hepatoportoenterostomy Predicts Short-Term Outcomes in Biliary Atresia

(2016) Benjamin L. Shneider et al.   JOURNAL OF PEDIATRICS

Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia

(2016) Zenobia C. Cofer et al.   PLoS One

Serum microRNA microarray analysis identifies miR-4429 and miR-4689 are potential diagnostic biomarkers for biliary atresia

(2016) Rui Dong et al.   Scientific Reports

Circulating miR-21 and miR-29a as Markers of Disease Severity and Etiology in Cholestatic Pediatric Liver Disease

(2016) Imeke Goldschmidt et al.   Journal of Clinical Medicine

Global methylation, oxidative stress and relative telomere length in biliary atresia patients

(2016) Wanvisa Udomsinprasert et al.   Scientific Reports

Heterozygous Deletion ofFOXA2Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia

(2015) Ellen A. Tsai et al.   HUMAN MUTATION

Pathogenesis of biliary atresia: defining biology to understand clinical phenotypes

(2015) Akihiro Asai et al.   Nature Reviews Gastroenterology & Hepatology

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Identification of a plant isoflavonoid that causes biliary atresia

(2015) Kristin Lorent et al.   Science Translational Medicine

Hepatic phenotypes ofHNF1Bgene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review

(2015) Radana Kotalova   WORLD JOURNAL OF GASTROENTEROLOGY

The Role of ARF6 in Biliary Atresia

(2015) Mylarappa Ningappa et al.   PLoS One

Up-regulation of miR-200b in biliary atresia patients accelerates proliferation and migration of hepatic stallate cells by activating PI3K/Akt signaling

(2014) Yongtao Xiao et al.   CELLULAR SIGNALLING

Use of Corticosteroids After Hepatoportoenterostomy for Bile Drainage in Infants With Biliary Atresia

(2014) Jorge A. Bezerra et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

MicroRNA-21/PTEN/Akt axis in the fibrogenesis of biliary atresia

(2014) Wenjun Shen et al.   JOURNAL OF PEDIATRIC SURGERY

The role of glypicans in Hedgehog signaling

(2014) Jorge Filmus et al.   MATRIX BIOLOGY

Association between Single Nucleotide Polymorphisms in the ADD3 Gene and Susceptibility to Biliary Atresia

(2014) Shuaidan Zeng et al.   PLoS One

Polycystic liver disease: ductal plate malformation and the primary cilium

(2014) Edgar S. Wills et al.   TRENDS IN MOLECULAR MEDICINE

Liver involvement in children with ciliopathies

(2014) N. Rock et al.   Clinics and Research in Hepatology and Gastroenterology

Polymorphism of ITGB2 Gene 3'-UTR+145C/A Is Associated with Biliary Atresia

(2013) Rui Zhao et al.   DIGESTION

Evidence From Human and Zebrafish That GPC1 Is a Biliary Atresia Susceptibility Gene

(2013) Shuang Cui et al.   GASTROENTEROLOGY

Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia

(2013) Ellen A. Tsai et al.   HUMAN GENETICS

Common genetic variants regulating ADD3 gene expression alter biliary atresia risk

(2013) Guo Cheng et al.   JOURNAL OF HEPATOLOGY

Extrahepatic Cholangiocyte Cilia Are Abnormal in Biliary Atresia

(2013) Sara Karjoo et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Direct recording and molecular identification of the calcium channel of primary cilia

(2013) Paul G. DeCaen et al.   NATURE

Primary cilia are specialized calcium signalling organelles

(2013) Markus Delling et al.   NATURE

Associations of Mitochondrial Haplogroups B4 and E with Biliary Atresia and Differential Susceptibility to Hydrophobic Bile Acid

(2013) Mao-Meng Tiao et al.   PLoS Genetics

Mosaic 18q21.2 deletions including theTCF4gene: A clinical report

(2012) Massimiliano Rossi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Advances in cholangiocyte immunobiology

(2012) Gaurav Syal et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

The many faces and functions of β-catenin

(2012) Tomas Valenta et al.   EMBO JOURNAL

Cholangiocyte cilia are abnormal in syndromic and non-syndromic biliary atresia

(2012) Andrew S Chu et al.   MODERN PATHOLOGY

Abnormal DNA methylation of ITGAL (CD11a) in CD4+ T cells from infants with biliary atresia

(2011) Rui Dong et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The Perinatal Infection of Cytomegalovirus Is an Important Etiology for Biliary Atresia in China

(2011) Yi Xu et al.   CLINICAL PEDIATRICS

Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2

(2011) S. Field et al.   DEVELOPMENT

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

(2011) SHIFTEH SATTAR et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

NOTCH2mutations in Alagille syndrome

(2011) Binita Maya Kamath et al.   JOURNAL OF MEDICAL GENETICS

MicroRNA Profiling Identifies miR-29 as a Regulator of Disease-associated Pathways in Experimental Biliary Atresia

(2011) Nicholas J. Hand et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Changes in Epigenetic Regulation of CD4+ T Lymphocytesin Biliary Atresia

(2011) Rui Dong et al.   PEDIATRIC RESEARCH

Patients With Biliary Atresia Have Elevated Direct/Conjugated Bilirubin Levels Shortly After Birth

(2011) S. Harpavat et al.   PEDIATRICS

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3

(2010) Melissa Leyva-Vega et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Vascular factors, angiogenesis and biliary tract disease

(2010) Shannon S Glaser et al.   CURRENT OPINION IN GASTROENTEROLOGY

EFEMP1 expression promotes angiogenesis and accelerates the growth of cervical cancer in vivo

(2010) En-lin Song et al.   GYNECOLOGIC ONCOLOGY

DNA hypomethylation causes bile duct defects in zebrafish and is a distinguishing feature of infantile biliary atresia

(2010) Randolph P. Matthews et al.   HEPATOLOGY

Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2

(2010) Maria-Mercè Garcia-Barceló et al.   HUMAN MOLECULAR GENETICS

Situs Inversus in Dpcd/Poll–/–, Nme7–/–, and Pkd1l1–/– Mice

(2010) P. Vogel et al.   VETERINARY PATHOLOGY

Liver and kidney disease in ciliopathies

(2009) Meral Gunay-Aygun   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Notch signaling controls liver development by regulating biliary differentiation

(2009) Y. Zong et al.   DEVELOPMENT

Intrahepatic Bile Ducts Develop According to a New Mode of Tubulogenesis Regulated by the Transcription Factor SOX9

(2009) Aline Antoniou et al.   GASTROENTEROLOGY

Foxa1 and Foxa2 regulate bile duct development in mice

(2009) Zhaoyu Li et al.   JOURNAL OF CLINICAL INVESTIGATION

CFC1 Gene Involvement in Biliary Atresia With Polysplenia Syndrome

(2009) Anne Davit-Spraul et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Custom-made covered transjugular intrahepatic portosystemic shunt (TIPS) in an infant with trisomy 22 and biliary atresia

(2009) Chrysanthi Emmanouil Chlapoutaki et al.   PEDIATRIC RADIOLOGY

Polymorphisms of the ICAM-1 Gene Are Associated with Biliary Atresia

(2008) Cigdem Arikan et al.   DIGESTIVE DISEASES AND SCIENCES

Mother-to-daughter occurrence of biliary atresia: a case report

(2008) Kumiko Kobayashi et al.   JOURNAL OF PEDIATRIC SURGERY

Hepatocyte-specific ablation of Foxa2 alters bile acid homeostasis and results in endoplasmic reticulum stress

(2008) Irina M Bochkis et al.   NATURE MEDICINE