Literature DB >> 22239599

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.

F C Connell, K Kalidas, P Ostergaard, G Brice, V Murday, P S Mortimer, I Jeffrey, S Jeffery, Sahar Mansour.   

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Year:  2012        PMID: 22239599     DOI: 10.1111/j.1399-0004.2011.01731.x

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


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  9 in total

1.  A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.

Authors:  Carolyn C Jackson; Lucy Best; Lazaro Lorenzo; Jean-Laurent Casanova; Jochen Wacker; Simone Bertz; Abbas Agaimy; Thomas Harrer
Journal:  J Clin Immunol       Date:  2015-12-19       Impact factor: 8.317

Review 2.  Development of the mammalian lymphatic vasculature.

Authors:  Ying Yang; Guillermo Oliver
Journal:  J Clin Invest       Date:  2014-03-03       Impact factor: 14.808

Review 3.  Lymphatic Vessel Network Structure and Physiology.

Authors:  Jerome W Breslin; Ying Yang; Joshua P Scallan; Richard S Sweat; Shaquria P Adderley; Walter L Murfee
Journal:  Compr Physiol       Date:  2018-12-13       Impact factor: 9.090

Review 4.  A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.

Authors:  Patrick Frosk; Bernard Chodirker; Louise Simard; Wael El-Matary; Ana Hanlon-Dearman; Jeremy Schwartzentruber; Jacek Majewski; Cheryl Rockman-Greenberg
Journal:  BMC Med Genet       Date:  2015-04-30       Impact factor: 2.103

5.  Clinical significance of CCBE1 expression in lung cancer.

Authors:  Peng Li; Zhuangzhuang Cong; Yong Qiang; Lei Xiong; Li Tang; Yu Zhang; Haiwei Wu; Jun Yi; Hua Jing; Demin Li; Yi Shen
Journal:  Mol Med Rep       Date:  2017-11-29       Impact factor: 2.952

6.  Hsa_circ_0076931 suppresses malignant biological properties, down-regulates miR-6760-3p through direct binding, and up-regulates CCBE1 in glioma.

Authors:  Yanbin Ke; Shixing Su; Chuanzhi Duan; Yezhong Wang; Guobin Cao; Zelu Fang; Yonghua Tuo; Wei Li; Zhaotao Wang; Shizhen Zhang
Journal:  Biosci Rep       Date:  2022-01-28       Impact factor: 3.976

Review 7.  CCBE1 in Cardiac Development and Disease.

Authors:  Fernando Bonet; José M Inácio; Oriol Bover; Sabrina B Añez; José A Belo
Journal:  Front Genet       Date:  2022-02-09       Impact factor: 4.772

8.  CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.

Authors:  Sohela Shah; Laura K Conlin; Luis Gomez; Øystein Aagenaes; Kristin Eiklid; A S Knisely; Michael T Mennuti; Randolph P Matthews; Nancy B Spinner; Laura N Bull
Journal:  PLoS One       Date:  2013-09-26       Impact factor: 3.240

9.  Loss of Ccbe1 affects cardiac-specification and cardiomyocyte differentiation in mouse embryonic stem cells.

Authors:  Oriol Bover; Tiago Justo; Paulo N G Pereira; João Facucho-Oliveira; José M Inácio; José S Ramalho; Ibrahim J Domian; José António Belo
Journal:  PLoS One       Date:  2018-10-03       Impact factor: 3.240

  9 in total

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