Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families - Wikidata - awgldk - TriplyDB

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

http://www.wikidata.org/entity/Q24538971

about

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis Notch signalling is linked to epidermal cell differentiation level in basal cell carcinoma, psoriasis and wound healing CADASIL: Notch signaling defect or protein accumulation problem?Alagille syndrome: pathogenesis, diagnosis and management JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes Alagille syndrome: clinical perspectives Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population Jagged-1 mutation analysis in Italian Alagille syndrome patients miRNA-34c regulates Notch signaling during bone development Jagged1 (JAG1): Structure, expression, and disease associations Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.Gene expression in pediatric heart disease with emphasis on conotruncal defects.Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage Distinct Caenorhabditis elegans HLH-8/twist-containing dimers function in the mesoderm.Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome Jagged1 mutations in alagille syndrome.Craniosynostosis in Alagille syndrome.Regulation of mandibular growth and morphogenesis.Molecular nature of 11 spontaneous de novo mutations in Drosophila melanogaster.Molecular and comparative genetics of mental retardation.Disorders caused by chromosome abnormalities.Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.Jagged1 functions downstream of Twist1 in the specification of the coronal suture and the formation of a boundary between osteogenic and non-osteogenic cells JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.Genetics of type 2 diabetes mellitus: status and perspectives.Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.Notch signaling in cardiac valve development and disease.Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis Biological functions of fucose in mammals.CHI3L1 regulation of inflammation and the effects on osteogenesis in a Staphylococcus aureus-induced murine model of osteomyelitis.Clinical utility gene card for: Alagille Syndrome (ALGS)A case of Alagille syndrome presenting with chronic cholestasis in an adult.The C. elegans Twist target gene, arg-1, is regulated by distinct E box promoter elements.Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum

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Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

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P2860

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

Jagged: a mammalian ligand that activates Notch1

Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur

Notch signaling

Alagille syndrome and deletion of 20p.

Segregation analysis of Alagille syndrome.

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