|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NOTCH2 mutations lead to the development of Alagille syndrome, while mutations in NOTCH3 cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
|
29767458 |
2019 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Combining our cohort of 86 novel JAG1 and three novel NOTCH2 variants with previously published data (totaling 713 variants), we present the most comprehensive pathogenic variant overview for Alagille syndrome.
|
31343788 |
2019 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We cannot rule out the fact that patients affected by Alagille syndrome carrying NOTCH2 mutations may suffer ovarian dysfunction.
|
30304577 |
2019 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although genetic tests for liver cholestatic diseases were performed with negative results for Alagille syndrome (JAG1 and NOTCH2), a de-novo missense mutation of HNF1β gene was detected.
|
30791938 |
2019 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alagille syndrome (ALGS) is an autosomal-dominant multisystem disorder caused by mutations in Jagged 1 (JAG1) or NOTCH2.
|
30746957 |
2019 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alagille syndrome (AGS) is a multisystem disorder and caused by mutations in JAG1 or NOTCH2 gene.
|
30074189 |
2018 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Herein, we present a patient with Alagille syndrome caused by a mutation in NOTCH2 with a hepatic adenoma.
|
29516774 |
2018 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Angiogenic defects secondary to gene mutations of JAG1 and NOTCH2, causing arterial anomalies in Alagille syndrome (AGS), are well described in the literature.
|
28141679 |
2017 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We analysed 30 subjects with Alagille syndrome, nine with incomplete Alagille syndrome and 17 with biliary atresia and detected pathogenic mutations in JAG1 or NOTCH2 in 24/30 subjects with Alagille syndrome and in 4/9 subjects with incomplete Alagille syndrome.
|
28695677 |
2017 |
|
Alagille Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Notably, instead of providing sufficient redundancy to ensure that losing any one allele will be inconsequential to human health, a reduction in the dose of one ligand (Jagged1) or one receptor (Notch2) is causally associated with a rare developmental syndrome (Alagille syndrome, or ALGS) affecting eye, kidney, liver, and craniofacial development.
|
24271660 |
2014 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To date, over 440 different JAG1 gene mutations and ten NOTCH2 mutations have been identified in ALGS patients.
|
24748328 |
2014 |
|
Alagille Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Notch2, but not Notch1, plays indispensable roles in kidney organogenesis, and Notch2 haploinsufficiency is associated with Alagille syndrome.
|
23806616 |
2013 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a small proportion of cases mutation in NOTCH2 (ALGS type 2).
|
21934706 |
2012 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The study screened a cohort of JAG1-negative individuals with clinical features suggestive or diagnostic of ALGS for NOTCH2 mutations.
|
22209762 |
2012 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, analysis of 21 Vietnamese ALGS individuals led to the identification of 19 different mutations (18 JAG1 and 1 NOTCH2), 17 of which are novel, including the third reported NOTCH2 mutation in Alagille Syndrome.
|
22488849 |
2012 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In total, we identified five novel and one previously reported mutation, all clustered near the carboxyl terminus of the gene, suggesting an allele specific genotype-phenotype effect since other mutations in NOTCH2 have been reported to cause a form of Alagille syndrome.
|
21681853 |
2011 |
|
Alagille Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
The implementation of this screening method for JAG1 and NOTCH2 will help medical geneticists confirm their clinical impressions and provide accurate genetic counseling to the patients with Alagille syndrome and their families.
|
17949281 |
2007 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
|
16773578 |
2006 |
|
Alagille Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
|
16773578 |
2006 |
|
Alagille Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Alagille Syndrome
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|