Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation

被引：0
|
作者：
Shantan Reddy
Michael B. Gorin
Tara A. McCannel
Irena Tsui
Bradley R. Straatsma
机构：
[1] NYU Langone Medical Center,Jules Stein Eye Institute
[2] University of California,undefined
来源：
Graefe's Archive for Clinical and Experimental Ophthalmology | 2010年 / 248卷
关键词：
Cerebral cavernous malformation; KRIT1; Mutation; Retinal cavernous hemangioma;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1359 / 1361
页数：2
相关论文
共 50 条
  • [21] CCM1/KRIT1 mutation in monozygotic twins of a polyzygotic triplet birth: genetic, clinical and radiological characteristics
    Hartmann, Karl
    Stein, Klaus-Peter
    Neyazi, Belal
    Felbor, Ute
    Hethey, Sven
    Sandalcioglu, I. Erol
    NEUROSURGICAL REVIEW, 2019, 42 (03) : 765 - 768
  • [22] Exome capture sequencing identifies a novel CCM1 mutation in a Chinese family with multiple cerebral cavernous malformations
    Mao, Cheng-yuan
    Yang, Jing
    Zhang, Shu-yu
    Luo, Hai-yang
    Song, Bo
    Liu, Yu-tao
    Wu, Jun
    Sun, Shi-lei
    Yang, Zhi-hua
    Du, Pan
    Wang, Yao-he
    Shi, Chang-he
    Xu, Yu-ming
    INTERNATIONAL JOURNAL OF NEUROSCIENCE, 2016, 126 (12) : 1071 - 1076
  • [23] A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
    Yang, Lipeng
    Wu, Jian
    Zhang, Jing
    FRONTIERS IN NEUROLOGY, 2020, 11
  • [24] Rap1 and its effector KRIT1/CCM1 regulate β-catenin signaling
    Glading, Angela J.
    Ginsberg, Mark H.
    DISEASE MODELS & MECHANISMS, 2010, 3 (1-2) : 73 - 83
  • [25] CCM1/KRIT1 mutation in monozygotic twins of a polyzygotic triplet birth: genetic, clinical and radiological characteristics
    Karl Hartmann
    Klaus-Peter Stein
    Belal Neyazi
    Ute Felbor
    Sven Hethey
    I. Erol Sandalcioglu
    Neurosurgical Review, 2019, 42 : 765 - 768
  • [26] A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation
    Huang, Wen-Qing
    Lu, Cong-Xia
    Zhang, Ya
    Yi, Ke-Hui
    Cai, Liang-Liang
    Li, Ming-Li
    Wang, Han
    Lin, Qing
    Tzeng, Chi-Meng
    FRONTIERS IN AGING NEUROSCIENCE, 2016, 8
  • [27] A novel CCM3 mutation associated with cerebral cavernous malformation in a Chinese family
    Jiang, Xiao-yu
    Zhang, Ying
    Yin, Xiang
    Nan, Di
    Wang, Xu
    Feng, Jia-chun
    Miao, Jing
    THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS, 2020, 13
  • [28] High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations
    Rath, Matthias
    Jenssen, Soenke E.
    Schwefel, Konrad
    Spiegler, Stefanie
    Kleimeier, Dana
    Sperling, Christian
    Kaderali, Lars
    Felbor, Ute
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2017, 60 (09) : 479 - 484
  • [29] The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation
    Buonagura, Autilia Tommasina
    Somma, Teresa
    Vitulli, Francesca
    Vitiello, Giuseppina
    Andolfo, Immacolata
    Esposito, Felice
    Russo, Roberta
    Iolascon, Achille
    Cappabianca, Paolo
    INTERDISCIPLINARY NEUROSURGERY-ADVANCED TECHNIQUES AND CASE MANAGEMENT, 2021, 26
  • [30] Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene
    Miguel Lucas
    Alzenire F Costa
    José M García-Moreno
    Francisca Solano
    Miguel A Gamero
    Guillermo Izquierdo
    BMC Neurology, 3 (1)
12345