Literature DB >> 33433009

Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1.

Dong Li1, Sarah E Sheppard1, Christina Peroutka2, Caitlin Barnes2, Janet R Reid3, Christopher L Smith4, Yoav Dori4, Hakon Hakonarson1.   

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Year:  2021        PMID： 33433009      PMCID： PMC8666150          DOI： 10.1111/cge.13915

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

Authors:  Robert C Bauer; Ayanna O Laney; Rosemarie Smith; Jennifer Gerfen; Jennifer J D Morrissette; Stacy Woyciechowski; Jennifer Garbarini; Kathleen M Loomes; Ian D Krantz; Zsolt Urban; Bruce D Gelb; Elizabeth Goldmuntz; Nancy B Spinner
Journal:  Hum Mutat       Date:  2010-05       Impact factor: 4.878

2.  Lymphatic abnormalities in Alagille's syndrome.

Authors:  D P Dutka; C Cousins; A R Manhire
Journal:  Br Heart J       Date:  1991-03

3.  Notch restricts lymphatic vessel sprouting induced by vascular endothelial growth factor.

Authors:  Wei Zheng; Tuomas Tammela; Masahiro Yamamoto; Andrey Anisimov; Tanja Holopainen; Seppo Kaijalainen; Terhi Karpanen; Kaisa Lehti; Seppo Ylä-Herttuala; Kari Alitalo
Journal:  Blood       Date:  2011-05-12       Impact factor: 22.113

4.  Notch1 functions as a negative regulator of lymphatic endothelial cell differentiation in the venous endothelium.

Authors:  Aino Murtomaki; Minji K Uh; Yun K Choi; Christopher Kitajewski; Valeriya Borisenko; Jan Kitajewski; Carrie J Shawber
Journal:  Development       Date:  2013-04-24       Impact factor: 6.868

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

Authors:  Melissa A Gilbert; Robert C Bauer; Ramakrishnan Rajagopalan; Christopher M Grochowski; Grace Chao; Deborah McEldrew; James A Nassur; Elizabeth B Rand; Bryan L Krock; Binita M Kamath; Ian D Krantz; David A Piccoli; Kathleen M Loomes; Nancy B Spinner
Journal:  Hum Mutat       Date:  2019-08-26       Impact factor: 4.878
  5 in total
  2 in total

1.  Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly.

Authors:  Mandi Liu; Christopher L Smith; David M Biko; Dong Li; Erin Pinto; Nora O'Connor; Cara Skraban; Elaine H Zackai; Hakon Hakonarson; Yoav Dori; Sarah E Sheppard
Journal:  Eur J Hum Genet       Date:  2022-05-24       Impact factor: 5.351

2.  Chylous cyst-venous shunt for the management of central conducting lymphatic anomaly.

Authors:  Miguel Angel Amore; Sofia Alexia Salvia; Cristobal Miguel Papendieck
Journal:  J Vasc Surg Cases Innov Tech       Date:  2021-02-26
  2 in total

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