Cargando…

Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II

PURPOSE: Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). The study investigated the mutation spectrum of UGT1A1 gene in Korean childre...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ko, Jae Sung, Chang, Ju Young, Moon, Jin Soo, Yang, Hye Ran, Seo, Jeong Kee
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2014
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990781/ https://www.ncbi.nlm.nih.gov/pubmed/24749086 http://dx.doi.org/10.5223/pghn.2014.17.1.37

Ejemplares similares

Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation
por: Nair, Karippoth Mohandas, et al.
Publicado: (2012)

Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II
por: Li, Lufeng, et al.
Publicado: (2015)

Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I
por: Abdellaoui, Nawel, et al.
Publicado: (2022)

Management of Crigler-Najjar syndrome
por: Tcaciuc, Eugen, et al.
Publicado: (2021)

Preclinical Development of an AAV8-hUGT1A1 Vector for the Treatment of Crigler-Najjar Syndrome
por: Collaud, Fanny, et al.
Publicado: (2018)

Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome
por: Gailite, Linda, et al.
Publicado: (2018)

Truncated UDP-glucuronosyltransferase (UGT) from a Crigler–Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum
por: Suzuki, Masahiro, et al.
Publicado: (2014)

UGT1A1 Gene Mutation due to Crigler-Najjar Syndrome in Iranian Patients: Identification of a Novel Mutation
por: Mohammadi Asl, Javad, et al.
Publicado: (2013)

Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity
por: Cozzi, Laura, et al.
Publicado: (2022)

A Rare Case Report of Crigler Najjar Syndrome Type II
por: Abdul Raffay, Eusha, et al.
Publicado: (2021)

A translationally optimized AAV-UGT1A1 vector drives safe and long-lasting correction of Crigler-Najjar syndrome
por: Ronzitti, Giuseppe, et al.
Publicado: (2016)

Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II
por: Sun, Lei, et al.
Publicado: (2017)

Quantitative Systems Pharmacology Model of hUGT1A1‐modRNA Encoding for the UGT1A1 Enzyme to Treat Crigler‐Najjar Syndrome Type 1
por: Apgar, Joshua F., et al.
Publicado: (2018)

Human liver stem cells express UGT1A1 and improve phenotype of immunocompromised Crigler Najjar syndrome type I mice
por: Famulari, Elvira Smeralda, et al.
Publicado: (2020)

CORRIGENDUM: Quantitative Systems Pharmacology Model of hUGT1A1‐modRNA Encoding for the UGT1A1 Enzyme to Treat Crigler‐Najjar Syndrome Type 1
por: Apgar, J.F., et al.
Publicado: (2020)

p.Cys223Tyr mutation causing Crigler–Najjar syndrome type II
por: Xiong, Qing‐Fang, et al.
Publicado: (2020)

Perioperative management of a patient with hemophilia A and crigler-najjar syndrome
por: Bhoi, Debesh, et al.
Publicado: (2013)

Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation
por: Wu, Huan, et al.
Publicado: (2023)

Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report
por: Fernandes, Samuel Raimundo, et al.
Publicado: (2016)

Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler–Najjar syndrome type 1
por: Ghorbani, Mohammad Javad, et al.
Publicado: (2021)

Hereditary Spherocytosis Coexisting with UDP-Glucuronosyltransferase Deficiency Highly Suggestive of Crigler-Najjar Syndrome Type II
por: Iijima, Shigeo, et al.
Publicado: (2011)

A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I
por: Valmiki, Sailaja, et al.
Publicado: (2020)

Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis
por: Zheng, Bixia, et al.
Publicado: (2014)

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays
por: Gailite, Linda, et al.
Publicado: (2020)

Severe neonatal hyperbilirubinemia in Crigler‐Najjar syndrome model mice can be reversed with zinc protoporphyrin
por: Fujiwara, Ryoichi, et al.
Publicado: (2017)

Mild Crigler–Najjar Syndrome with Progressive Liver Disease—A Multicenter Retrospective Cohort Study
por: Junge, Norman, et al.
Publicado: (2023)

Promoterless gene targeting without nucleases rescues lethality of a Crigler‐Najjar syndrome mouse model
por: Porro, Fabiola, et al.
Publicado: (2017)

Perioperative Management of Patient with Esophageal Carcinoma and Crigler-Najjar Syndrome Type 2: A Case Report
por: Ma, Dehua, et al.
Publicado: (2022)

A rare case of Crigler–Najjar syndrome type 2: A case report and literature review
por: Rijal, Divas, et al.
Publicado: (2023)

AAV8 Gene Therapy for Crigler-Najjar Syndrome in Macaques Elicited Transgene T Cell Responses That Are Resident to the Liver
por: Greig, Jenny A., et al.
Publicado: (2018)

Liver Transplantation in a Child With Crigler-Najjar Syndrome Type I: A Case Report With Review of the Literature
por: Alharbi, Faisal A, et al.
Publicado: (2023)

Case report: Crigler-Najjar syndrome type 1 in Croatia—more than a one in a million: a case series
por: Kovačić Perica, Matea, et al.
Publicado: (2023)

Determining the Minimally Effective Dose of a Clinical Candidate AAV Vector in a Mouse Model of Crigler-Najjar Syndrome
por: Greig, Jenny A., et al.
Publicado: (2018)

Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler–Najjar Syndrome
por: Aronson, Sem J., et al.
Publicado: (2019)

Lipid nanoparticle-encapsulated mRNA therapy corrects serum total bilirubin level in Crigler-Najjar syndrome mouse model
por: Greig, Jenny A., et al.
Publicado: (2023)

Free Bilirubin Induces Neuro-Inflammation in an Induced Pluripotent Stem Cell-Derived Cortical Organoid Model of Crigler-Najjar Syndrome
por: Pranty, Abida Islam, et al.
Publicado: (2023)

Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer
por: Bortolussi, Giulia, et al.
Publicado: (2012)

X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3
por: BAI, JINLI, et al.
Publicado: (2016)

De Novo Donor‐Specific HLA Antibody Formation in Two Patients With Crigler‐Najjar Syndrome Type I Following Human Hepatocyte Transplantation With Partial Hepatectomy Preconditioning
por: Jorns, C., et al.
Publicado: (2015)

Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia
por: Kim, Jin Ju, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_e8lr40cab1vh8vfjav27qo9e2m