Cargando…

Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T > A) mutation in JAGGED-1

Alagille syndrome (ALGS) is a rare autosomal dominant disorder caused by disruption of the Notch signaling pathway due to mutations in either JAGGED1 (JAG1) (ALGS type 1) or NOTCH2 (ALGS type 2). Loss of this signaling interferes with the development of many organs, but especially the liver. A human...

Descripción completa

Detalles Bibliográficos
Autores principales:	Brooks, Brianna M., Pradhan, Manisha, Cheng, Yu-Shan, Gorshkov, Kirill, Farkhondeh, Atena, Chen, Catherine Z., Beers, Jeanette, Liu, Chengyu, Baumgaertel, Karsten, Rodems, Steven, Zheng, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8300001/ https://www.ncbi.nlm.nih.gov/pubmed/34198154 http://dx.doi.org/10.1016/j.scr.2021.102447

Ejemplares similares

Therapeutics Development for Alagille Syndrome
por: Sanchez, Phillip, et al.
Publicado: (2021)

Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene
por: Li, Rong, et al.
Publicado: (2018)

Four induced pluripotent stem cell lines (TRNDi021-C, TRNDi023-D, TRNDi024-D and TRNDi025-A) generated from fibroblasts of four healthy individuals
por: Xu, Xiaogang, et al.
Publicado: (2020)

An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene
por: Yang, Shu, et al.
Publicado: (2019)

An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T > C) mutation in the SMPD1 gene
por: Baskfield, Amanda, et al.
Publicado: (2019)

Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome
por: Brennan, Alisa, et al.
Publicado: (2017)

Generation of an induced pluripotent stem cell line (TRNDi030-A) from a patient with Farber disease carrying a homozygous p. Y36C (c. 107 A>G) mutation in ASAH1
por: Brooks, Brianna M., et al.
Publicado: (2021)

Generation of an induced pluripotent stem cell line (TRNDi012-B) from Fibrodysplasia Ossificans Progressiva (FOP) patient carrying a heterozygous mutation c. 617G > A in the ACVR1 gene
por: Huang, Xiuli, et al.
Publicado: (2021)

Alagille Syndrome: A Novel Mutation in JAG1 Gene
por: Fischetto, Rita, et al.
Publicado: (2019)

Generation of iPSC line NCHi012-A from a patient with Alagille syndrome and heterozygous pathogenic variant in the JAG1 gene
por: Cunningham, David, et al.
Publicado: (2023)

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome
por: Jurkiewicz, Dorota, et al.
Publicado: (2014)

Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations
por: Andersson, Emma R., et al.
Publicado: (2018)

Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome
por: Micaglio, Emanuele, et al.
Publicado: (2019)

MicroRNA-936 Targets JAG1 and Inhibits the Proliferation of Hepatocellular Carcinoma Cells
por: Tian, Junmei, et al.
Publicado: (2021)

Generation of an induced pluripotent stem cell line (TRNDi004-I) from a Niemann-Pick disease type B patient carrying a heterozygous mutation of p.L43_A44delLA in the SMPD1 gene
por: Baskfield, Amanda, et al.
Publicado: (2019)

JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome
por: Almes, Marion, et al.
Publicado: (2023)

A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome
por: Reyes-de la Rosa, Alejandra del Pilar, et al.
Publicado: (2018)

Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene
por: Hong, Junjie, et al.
Publicado: (2019)

Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center
por: Ahn, Kyung Jin, et al.
Publicado: (2015)

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome
por: Li, Liting, et al.
Publicado: (2015)

Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population()
por: Vázquez-Martínez, Edgar Ricardo, et al.
Publicado: (2013)

Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene
por: Li, Rong, et al.
Publicado: (2019)

An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene
por: Li, Rong, et al.
Publicado: (2020)

Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation
por: Hayashi, Norifumi, et al.
Publicado: (2013)

Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome
por: Buhl, Nicole, et al.
Publicado: (2022)

An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene
por: Pradhan, Manisha, et al.
Publicado: (2021)

Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome
por: Chen, Yiyao, et al.
Publicado: (2020)

Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis
por: Han, Yijiang, et al.
Publicado: (2022)

An induced pluripotent stem cell line (TRNDi006-A) from a MPS IIIB patient carrying homozygous mutation of p.Glu153Lys in the NAGLU gene
por: Huang, Wei, et al.
Publicado: (2019)

A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene
por: Cheng, Yu-Shan, et al.
Publicado: (2019)

Regenerative failure of intrahepatic biliary cells in Alagille syndrome rescued by elevated Jagged/Notch/Sox9 signaling
por: Zhao, Chengjian, et al.
Publicado: (2022)

VEGF +936 C/T Genetic Polymorphism in Patients with Cervical Dysplasia
por: Rotar, Ioana Cristina, et al.
Publicado: (2016)

Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic
por: Procházková, Dagmar, et al.
Publicado: (2021)

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification
por: Gilbert, Melissa A., et al.
Publicado: (2019)

Association between VEGF polymorphisms (−460 T/C and +936 C/T) and retinopathy of prematurity risk: A meta-analysis
por: Shukla, Swati, et al.
Publicado: (2016)

Clinical Relevance of +936 C>T VEGFA and c.233C>T bFGF Polymorphisms in Chronic Lymphocytic Leukemia
por: Ballester, Sandra, et al.
Publicado: (2020)

Opération piquet PO 2000-031
por: Royer, J P
Publicado: (2000)

VEGF 936C > T Polymorphism and Association of BI-RADS Score in Women with Suspected Breast Cancer
por: Wehrschuetz, M., et al.
Publicado: (2009)

Vascular Endothelial Growth Factor 936 C/T Gene Polymorphism in Indonesian Subjects with Diabetic Polyneuropathy
por: Barus, Jimmy, et al.
Publicado: (2018)

Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report
por: Uddin, Mohammed Shahab, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_hg88gn0vb2kcsqb746f15hrao6