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Jagged1 (JAG1): Structure, expression, and disease associations

Gene, 2016-01, Vol.576 (1), p.381-384

2016

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Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools

HGG advances, 2024-10, Vol.5 (4), p.100351, Article 100351

2024

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Alagille Syndrome: Pathogenesis and Clinical Management

1, 2018

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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

Human mutation, 2019-12, Vol.40 (12), p.2197-2220

2019

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Microarray data reveal relationship between Jag1 and Ddr1 in mouse liver

PloS one, 2013-12, Vol.8 (12), p.e84383-e84383

2013

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Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation

American journal of human genetics, 2024-08, Vol.111 (8), p.1656-1672

2024

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Bone geometry and microarchitecture deficits in children with Alagille syndrome

Bone (New York, N.Y.), 2020-12, Vol.141, p.115576-115576, Article 115576

2020

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NOTCH2 mutations in Alagille syndrome

Journal of medical genetics, 2012-02, Vol.49 (2), p.138-144

2012

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Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

Genetics in medicine, 2021-02, Vol.23 (2), p.323-330

2021

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Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts

Translational gastroenterology and hepatology, 2021-04, Vol.6, p.22-22

2021

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Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver

Journal of pediatric gastroenterology and nutrition, 2022-01, Vol.74 (1), p.96-103

2022

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Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome

Liver international, 2016-05, Vol.36 (5), p.755-760

2016

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Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis

Human mutation, 2010-05, Vol.31 (5), p.594-601

2010

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Renal anomalies in Alagille syndrome: A disease-defining feature

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.85-89

2012

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Pathologic Lower Extremity Fractures in Children With Alagille Syndrome

Journal of pediatric gastroenterology and nutrition, 2010-07, Vol.51 (1), p.66-70

2010

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Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1005-1013

2012

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The Expression of Jagged1 in the Developing Mammalian Heart Correlates With Cardiovascular Disease in Alagille Syndrome

Human molecular genetics, 1999-12, Vol.8 (13), p.2443-2449

1999

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Characterization of Notch receptor expression in the developing mammalian heart and liver

American journal of medical genetics, 2002-10, Vol.112 (2), p.181-189

2002

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Cardiac, Aortic, and Pulmonary Vascular Involvement in Alagille Syndrome

Alagille Syndrome, 2018, p.77-90

2018

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Vascular Manifestations in Alagille Syndrome

Alagille Syndrome, 2018, p.91-102

2018

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The Renal Sequelae of Alagille Syndrome as a Product of Altered Notch Signaling During Kidney Development

Alagille Syndrome, 2018, p.103-120

2018

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Bile Duct Development and the Notch Signaling Pathway

Alagille Syndrome, 2018, p.11-31

2018

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Facial features in Alagille syndrome: Specific or cholestasis facies?

American journal of medical genetics, 2002-10, Vol.112 (2), p.163-170

2002

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Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome

American journal of medical genetics, 2002-10, Vol.112 (2), p.171-175

2002

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Jagged1 (JAG1): Structure, expression, and disease associations

Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools

Alagille Syndrome: Pathogenesis and Clinical Management

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification

Microarray data reveal relationship between Jag1 and Ddr1 in mouse liver

Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation

Bone geometry and microarchitecture deficits in children with Alagille syndrome

NOTCH2 mutations in Alagille syndrome

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts

Neurodevelopmental Outcomes in Children With Inherited Liver Disease and Native Liver

Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome

Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis

Renal anomalies in Alagille syndrome: A disease-defining feature

Pathologic Lower Extremity Fractures in Children With Alagille Syndrome

Alagille syndrome in a Vietnamese cohort: Mutation analysis and assessment of facial features

The Expression of Jagged1 in the Developing Mammalian Heart Correlates With Cardiovascular Disease in Alagille Syndrome

Characterization of Notch receptor expression in the developing mammalian heart and liver

Cardiac, Aortic, and Pulmonary Vascular Involvement in Alagille Syndrome

Vascular Manifestations in Alagille Syndrome

The Renal Sequelae of Alagille Syndrome as a Product of Altered Notch Signaling During Kidney Development

Bile Duct Development and the Notch Signaling Pathway

Facial features in Alagille syndrome: Specific or cholestasis facies?

Supernumerary digital flexion creases: An additional clinical manifestation of Alagille syndrome

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