Research & Literature

Compound heterozygosity of a novel exon 3 frameshift (p.R357P fs*24) mutation and Y486D mutation in exon 5 of the UGT1A1 gene in a Thai infant with Crigler-Najjar syndrome type 2.

Tesapirat L, Nilyanimit P, Wanlapakorn N, Poovorawan Y

Genetics and molecular research : GMR 2015; (14(2)):3293-9 doi:10.4238/2015.April.13.8.

Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.

Li L, Deng G, Tang Y, Mao Q

PloS one 2015; (10(5)):e0126263 doi:10.1371/journal.pone.0126263.

Disruption of HNF1α binding site causes inherited severe unconjugated hyperbilirubinemia.

van Dijk R, Mayayo-Peralta I, Aronson SJ, et al.

Journal of hepatology 2015; (63(6)):1525-9.

Effect of Blue Light on the Electronic and Structural Properties of Bilirubin Isomers: Insights into the Photoisomerization and Photooxidation Processes.

Cardoso LC, Savedra RM, Silva MM, et al.

The journal of physical chemistry. A 2015; (119(34)):9037-42 doi:10.1021/acs.jpca.5b04225.

Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.

Maruo Y, Behnam M, Ikushiro S, et al.

Journal of gastrointestinal and liver diseases : JGLD 2015; (24(4)):523-6 doi:10.15403/jgld.2014.1121.244.ugt.

[Effect and safety of intensive phototherapy in treatment of neonatal hyperbilirubinemia].

Zhang XR, Zeng CM, Liu J

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2016; (18(3)):195-200.

Management of pregnancy in Crigler Najjar syndrome type 2.

Chaubal AN, Patel R, Choksi D, et al.

World journal of hepatology 2016; (8(11)):530-2 doi:10.4254/wjh.v8.i11.530.

Unconjugated bilirubin elevation impairs the function and expression of breast cancer resistance protein (BCRP) at the blood-brain barrier in bile duct-ligated rats.

Xu P, Ling ZL, Zhang J, et al.

Acta pharmacologica Sinica 2016; (37(8)):1129-40 doi:10.1038/aps.2016.25.

A Pharmacologic View of Phototherapy.

Lamola AA

Clinics in perinatology 2016; (43(2)):259-76.

Gunn Rats as a Surrogate Model for Evaluation of Hepatocyte Transplantation-Based Therapies of Crigler-Najjar Syndrome Type 1.

Polgar Z, Li Y, Li Wang X, et al.

Methods in molecular biology (Clifton, N.J.) 2017; (1506()):131-147 doi:10.1007/978-1-4939-6506-9_9.

Prediction of 3- to 5-Month Outcomes from Signs of Acute Bilirubin Toxicity in Newborn Infants.

El Houchi SZ, Iskander I, Gamaleldin R, et al.

The Journal of pediatrics 2017; (183()):51-55.e1 doi:10.1016/j.jpeds.2016.12.079.

Intense blue light therapy during the night-time does not suppress the rhythmic melatonin biosynthesis in a young boy.

Stebelova K, Kosnacova J, Zeman M

Endocrine regulations 2017; (51(1)):31-34.

Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults.

Kumar P, Sasmal G, Gupta S, et al.

Journal of clinical and diagnostic research : JCDR 2017; (11(7)):OD05-OD06 doi:10.7860/JCDR/2017/28195.10221.

Hepatic Parenchymal Injury in Crigler-Najjar Type I.

Mitchell E, Ranganathan S, McKiernan P, et al.

Journal of pediatric gastroenterology and nutrition 2018; (66(4)):588-594 doi:10.1097/MPG.0000000000001843.

Crigler-Najjar Syndrome: Current Perspectives and the Application of Clinical Genetics.

Ebrahimi A, Rahim F

Endocrine, metabolic & immune disorders drug targets 2018; (18(3)):201-211 doi:10.2174/1871530318666171213153130.

Quantitative Systems Pharmacology Model of hUGT1A1-modRNA Encoding for the UGT1A1 Enzyme to Treat Crigler-Najjar Syndrome Type 1.

Apgar JF, Tang JP, Singh P, et al.

CPT: pharmacometrics & systems pharmacology 2018; (7(6)):404-412 doi:10.1002/psp4.12301.

Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth.

Liaqat A, Shahid A, Attiq H, et al.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2018; (28(10)):806-808 doi:3028.

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome.

Elfar W, Järvinen E, Ji W, et al.

Drug metabolism and disposition: the biological fate of chemicals 2019; (47(1)):45-48 doi:10.1124/dmd.118.084368.

[Clinical and pathological features of inherited metabolic liver disease in adults].

He ZY, You H, Zhao XY

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2018; (26(12)):889-893 doi:10.3760/cma.j.issn.1007-3418.2018.12.003.

[Study on spectrum of UGT1A1 mutations in connection with inherited non-hemolytic unconjugated hyperbilirubinemia].

Xiong QF, Zhong YD, Feng XN, et al.

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2018; (26(12)):898-902 doi:10.3760/cma.j.issn.1007-3418.2018.12.005.

Preclinical Development of an AAV8-hUGT1A1 Vector for the Treatment of Crigler-Najjar Syndrome.

Collaud F, Bortolussi G, Guianvarc'h L, et al.

Molecular therapy. Methods & clinical development 2019; (12()):157-174 doi:10.1016/j.omtm.2018.12.011.

Light Emitting Diode (LED) Phototherapy versus Conventional Phototherapy in Neonatal Hyperbilirubinemia: A Single Blinded Randomized Control Trial from Coastal India.

Gutta S, Shenoy J, Kamath SP, et al.

BioMed research international 2019; (2019()):6274719 doi:10.1155/2019/6274719.

A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report.

Shi X, Aronson S, Khan AS, Bosma PJ

BMC pediatrics 2019; (19(1)):173 doi:10.1186/s12887-019-1555-y.

Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias.

Zubaida B, Cheema HA, Hashmi MA, Naeem M

Clinical biochemistry 2019; (69()):30-35 doi:10.1016/j.clinbiochem.2019.05.012.

Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives.

Dhawan A, Lawlor MW, Mazariegos GV, et al.

Journal of gastroenterology and hepatology 2020; (35(4)):530-543 doi:10.1111/jgh.14853.

Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier.

Strauss KA, Ahlfors CE, Soltys K, et al.

Hepatology (Baltimore, Md.) 2020; (71(6)):1923-1939 doi:10.1002/hep.30959.

Case study on the use of intensive pediatric neurorehabilitation in the treatment of kernicterus.

Mann J, Wallace DA, DeLuca S

Journal of clinical movement disorders 2020; (7()):1 doi:10.1186/s40734-020-0084-z.

Diffusion Tensor Imaging of Microstructural Changes in the Gray and White Matter in Patients With Crigler-Najjar Syndrome Type I.

Razek AAKA, Taman SE, El Regal ME, et al.

Journal of computer assisted tomography 2020; (44(3)):393-398 doi:10.1097/RCT.0000000000001008.

[Analysis of mutation site characteristics of Gilbert syndrome and Crigler--Najjar syndrome in relation to uridine diphosphate glucuronosyltransferase A1 gene].

Liang C, Luo L, Bai J, et al.

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2020; (28(5)):428-433 doi:10.3760/cma.j.cn501113-20200217-00051.

p.Cys223Tyr mutation causing Crigler-Najjar syndrome type II.

Xiong QF, Zhou H, Yang YF

JGH open : an open access journal of gastroenterology and hepatology 2020; (4(5)):1009-1011 doi:10.1002/jgh3.12355.

BIND score: A system to triage infants readmitted for extreme hyperbilirubinemia.

Hameed NN, Hussein MA

Seminars in perinatology 2021; (45(1)):151354 doi:10.1016/j.semperi.2020.151354.

Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia.

Trabelsi N, Chaouch L, Haddad F, et al.

European journal of medical genetics 2021; (64(2)):104139 doi:10.1016/j.ejmg.2021.104139.

Outcome of liver transplantation and prevalence of liver fibrosis in Crigler-Najjar syndrome.

Schröder H, Junge N, Herden U, et al.

Clinical transplantation 2021; (35(4)):e14219 doi:10.1111/ctr.14219.

Childhood neurodevelopmental outcomes of survivors of acute bilirubin encephalopathy: A retrospective cohort study.

Kumar V, Kumar P, Sundaram V, et al.

Early human development 2021; (158()):105380 doi:10.1016/j.earlhumdev.2021.105380.

UGT1A1-related Bilirubin Encephalopathy/Kernicterus in Adults.

Bai J, Li L, Liu H, et al.

Journal of clinical and translational hepatology 2021; (9(2)):180-186 doi:10.14218/JCTH.2020.00108.

Management of Crigler-Najjar syndrome.

Tcaciuc E, Podurean M, Tcaciuc A

Medicine and pharmacy reports 2021; (94(Suppl No 1)):S64-S67 doi:10.15386/mpr-2234.

[Liver histologic changes in children with type 1 of Crigler-Najjar syndrome].

Ataollahi M, Dehghani SM, Anbardar MH, et al.

Arkhiv patologii 2021; (83(5)):27-30 doi:10.17116/patol20218305127.

Novel UGT1A1 Gene Mutations in a Boy with Crigler-Najjar Syndrome Type II.

Pérez-Solís D, Montes-Zapico B, Rodríguez-Dehli AC, et al.

Journal of pediatric genetics 2021; (10(4)):323-325 doi:10.1055/s-0040-1714361.

Diffusion Tensor Imaging of Auditory Pathway in Patients With Crigler-Najjar Syndrome Type I: Correlation With Auditory Brainstem Response.

Razek AAKA, Regal MEE, El-Shabrawi M, et al.

Journal of child neurology 2022; (37(2)):119-126 doi:10.1177/08830738211025865.

Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler-Najjar syndrome type I and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Knapp A, Jagła M, Madetko-Talowska A, et al.

American journal of medical genetics. Part A 2022; (188(6)):1848-1852 doi:10.1002/ajmg.a.62696.

Bilirubin Encephalopathy.

Qian S, Kumar P, Testai FD

Current neurology and neuroscience reports 2022; (22(7)):343-353 doi:10.1007/s11910-022-01204-8.

Clinical Practice Guideline Revision: Management of Hyperbilirubinemia in the Newborn Infant 35 or More Weeks of Gestation.

Kemper AR, Newman TB, Slaughter JL, et al.

Pediatrics 2022; (150(3)) doi:10.1542/peds.2022-058859.

The added value of brain MR spectroscopy in children with Crigler-Najjar syndrome type-I: correlation with demographic, neurodevelopmental, and laboratory findings.

Alnaghy E, Taman S, Abdelhalim E, et al.

The British journal of radiology 2023; (96(1144)):20220433 doi:10.1259/bjr.20220433.

Lipid nanoparticle-encapsulated mRNA therapy corrects serum total bilirubin level in Crigler-Najjar syndrome mouse model.

Greig JA, Chorazeczewski JK, Chowdhary V, et al.

Molecular therapy. Methods & clinical development 2023; (29()):32-39 doi:10.1016/j.omtm.2023.02.007.

Diagnostics Value of Quantitative Magnetic Resonance Imaging (MRI) in Neonatal Acute Bilirubin Encephalopathy.

Liu H, Zhang R, Zhang M, et al.

Journal of child neurology 2023; (38(3-4)):153-160 doi:10.1177/08830738231168514.

The pyroptosis mechanism of ototoxicity caused by unconjugated bilirubin in neonatal hyperbilirubinemia.

Sun S, Yu S, Yu H, et al.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2023; (165()):115162 doi:10.1016/j.biopha.2023.115162.

Gene Therapy in Patients with the Crigler-Najjar Syndrome.

D'Antiga L, Beuers U, Ronzitti G, et al.

The New England journal of medicine 2023; (389(7)):620-631 doi:10.1056/NEJMoa2214084.

Liver Transplantation in a Child With Crigler-Najjar Syndrome Type I: A Case Report With Review of the Literature.

Alharbi FA, Al-Shammari NR, Aloqeely KM

Cureus 2023; (15(7)):e42064 doi:10.7759/cureus.42064.

Free Bilirubin Induces Neuro-Inflammation in an Induced Pluripotent Stem Cell-Derived Cortical Organoid Model of Crigler-Najjar Syndrome.

Pranty AI, Wruck W, Adjaye J

Cells 2023; (12(18)) doi:10.3390/cells12182277.

A rare case of Crigler-Najjar syndrome type 2: A case report and literature review.

Rijal D, Rijal P, Bohare SM, et al.

Clinical case reports 2023; (11(11)):e8176 doi:10.1002/ccr3.8176.

Bilirubin impairs neuritogenesis and synaptogenesis in NSPCs by downregulating NMDAR-CREB-BDNF signaling.

Zhang Y, Li S, Li L, et al.

In vitro cellular & developmental biology. Animal 2024; (60(2)):161-171 doi:10.1007/s11626-023-00844-5.

Health-related quality of life and cognitive function in children with Crigler-Najjar syndrome type 1.

El-Anwar N, El-Shabrawi M, Shahin OO, et al.

Paediatrics and international child health 2024; (44(1)):18-23 doi:10.1080/20469047.2024.2309727.

mRNA therapies: Pioneering a new era in rare genetic disease treatment.

Shen G, Liu J, Yang H, et al.

Journal of controlled release : official journal of the Controlled Release Society 2024; (369()):696-721 doi:10.1016/j.jconrel.2024.03.056.

[Impact of chaperone-mediated autophagy on bilirubin-induced damage of mouse microglial cells].

Pan ZF, Li SY, Li L, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2024; (26(4)):385-393 doi:10.7499/j.issn.1008-8830.2312014.

Type II Crigler-Najjar syndrome: a case report and literature review.

He T, Geng X, Zhu L, et al.

Frontiers in medicine 2024; (11()):1354514 doi:10.3389/fmed.2024.1354514.

A Case of Crigler-Najjar Syndrome Type II During Pregnancy and Its Management.

Singh S, Tayade S, Makhija N, et al.

Cureus 2024; (16(4)):e59075 doi:10.7759/cureus.59075.

Bilirubin isomers during LED phototherapy of hyperbilirubinemic neonates, blue-green (~478 nm) vs blue.

Ebbesen F, Madsen PH, Rodrigo-Domingo M, Donneborg ML

Pediatric research 2025; (97(5)):1623-1628 doi:10.1038/s41390-024-03493-w.

Therapeutic Options for Crigler-Najjar Syndrome: A Scoping Review.

Sambati V, Laudisio S, Motta M, Esposito S

International journal of molecular sciences 2024; (25(20)) doi:10.3390/ijms252011006.

[Expert consensus on the diagnosis and therapy of inherited hyperbilirubinemia (version 2025)].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology 2025; (33(8)):747-759 doi:10.3760/cma.j.cn501113-20250518-00194.

Liver-Specific Biocompatible Lipid Nanoparticle-Enabled mRNA Therapy for Haemophilia B.

Arjunan P, Rachamala HK, Mahalingam G, et al.

Advanced healthcare materials 2026; (15(9)):e03248 doi:10.1002/adhm.202503248.

Investigation of a PID-Based Dynamic Illuminance Control System for Intelligent Neonatal Jaundice Phototherapy Using a Blue Light LED Array.

Xie M, Zheng H, Liu M, et al.

Sensors (Basel, Switzerland) 2026; (26(2)) doi:10.3390/s26020528.

From Childhood Icterus to Adolescent Gallstones: Clinically Diagnosed Crigler-Najjar Syndrome Type II.

Goswami DK, Goswami B, Shaikh S, et al.

Clinical case reports 2026; (14(2)):e72080 doi:10.1002/ccr3.72080.

Liver Transplantation Outcomes in Crigler-Najjar Syndrome in Iran: A Single-Center Retrospective Cohort Study Over 20 Years.

Teimoury S, Beyzaei Z, Shamsaeefar A, et al.

Health science reports 2026; (9(5)):e72393 doi:10.1002/hsr2.72393.