Publications:

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The developmental origins of Notch-driven intrahepatic bile duct disorders.

Disease Models & Mechanisms

Martinez Lyons, Anabel A; Boulter, Luke L

Publication Date: 2021-09-01

Variant appearance in text: JAG1: H268Q

PubMed Link: 34549776

Variant Present in the following documents:

• Main text

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

Translational Gastroenterology And Hepatology

Gilbert, Melissa A MA; Loomes, Kathleen M KM

Publication Date: 2021

Variant appearance in text: JAG1: H268Q

PubMed Link: 33824926

Variant Present in the following documents:

• Main text

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Application of CRISPR-Cas9 gene editing for congenital heart disease.

Clinical And Experimental Pediatrics

Seok, Heeyoung H; Deng, Rui R; Cowan, Douglas B DB; Wang, Da-Zhi DZ

Publication Date: 2021-06

Variant appearance in text: JAG1: H268Q

PubMed Link: 33677855

Variant Present in the following documents:

• Main text
• cep-2020-02096.pdf

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Hear, Hear for Notch: Control of Cell Fates in the Inner Ear by Notch Signaling.

Biomolecules

Brown, Rogers R; Groves, Andrew K AK

Publication Date: 2020-02-28

Variant appearance in text: JAG1: H268Q

PubMed Link: 32121147

Variant Present in the following documents:

• biomolecules-10-00370.pdf

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

Human Mutation

Gilbert, Melissa A MA; Bauer, Robert C RC; Rajagopalan, Ramakrishnan R; Grochowski, Christopher M CM; Chao, Grace G; McEldrew, Deborah D; Nassur, James A JA; Rand, Elizabeth B EB; Krock, Bryan L BL; Kamath, Binita M BM; Krantz, Ian D ID; Piccoli, David A DA; Loomes, Kathleen M KM; Spinner, Nancy B NB

Publication Date: 2019-12

Variant appearance in text: JAG1: H268Q

PubMed Link: 31343788

Variant Present in the following documents:

• Main text
• HUMU-40-2197.pdf

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Cholangiopathies - Towards a molecular understanding.

Ebiomedicine

Tam, Paul K H PKH; Yiu, Rachel S RS; Lendahl, Urban U; Andersson, Emma R ER

Publication Date: 2018-09

Variant appearance in text: JAG1: H268Q

PubMed Link: 30236451

Variant Present in the following documents:

• Main text

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Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.

Gastroenterology

Andersson, Emma R ER; Chivukula, Indira V IV; Hankeova, Simona S; Sjöqvist, Marika M; Tsoi, Yat Long YL; Ramsköld, Daniel D; Masek, Jan J; Elmansuri, Aiman A; Hoogendoorn, Anita A; Vazquez, Elenae E; Storvall, Helena H; Netušilová, Julie J; Huch, Meritxell M; Fischler, Björn B; Ellis, Ewa E; Contreras, Adriana A; Nemeth, Antal A; Chien, Kenneth C KC; Clevers, Hans H; Sandberg, Rickard R; Bryja, Vitezslav V; Lendahl, Urban U

Publication Date: 2018-03

Variant appearance in text: JAG1: H268Q

PubMed Link: 29162437

Variant Present in the following documents:

• Main text
• EMS85606.pdf

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