Results 91 to 100 of about 1,269 (145)

Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G > A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population

, 2017
Cerebral cavernous malformation (CCM) is a congenital vascular anomaly predominantly located within the central nervous system. Its familial forms (familial cerebral cavernous malformation (FCCM)), inherited in an autosomal dominant manner with ...
Wu, Bingquan, Zhong, Haohao, Xu, Yulun, Zhao, Jizong, Yang, Chenlong, Li, Yan   +5 more
core   +1 more source

Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway

, 2009
Cerebral cavernous malformations (CCMs) are human vascular malformations caused by mutations in three genes of unknown function: KRIT1, CCM2 and PDCD10. Here we show that the heart of glass (HEG1) receptor, which in zebrafish has been linked to ccm gene ...
Markus Affolter, Blum, Y., Guo, L., Jian J Liu, Kleaveland, B., Zheng, X., Benjamin Kleaveland, Chen, M., Kahn, M. L., Jennifer J Tung, Ginsberg, M. H., Affolter, M., Xiangjian Zheng, Jan Kitajewski, Zhiying Zou, Mei Chen, Tung, J. J., Yannick Blum, Sweeney, S. M., Zou, Z., Liu, J. J., Kitajewski, J., Mark H Ginsberg, Min-min Lu, Mark L Kahn, Lu, M. -min, Lili Guo, Zhou, D., Shawn M Sweeney, Diane Zhou   +29 more
core   +1 more source

Proteomic Identification of the Cerebral Cavernous Malformation Signaling Complex

, 2007
Cerebral cavernous malformations (CCM) are sporadic or inherited vascular lesions of the central nervous system characterized by dilated, thin-walled, leaky vessels.
Michael H. Malone (8667771), Sompop Bencharit (363111), Thomas L. Hilder (8667768), John Colicelli (118278), Timothy A. Haystead (8667774), Christine C. Wu (1961830), Gary L. Johnson (363110)   +6 more
core   +1 more source

Cutaneous venous malformation due to krit1 mutation: a case report

, 2012
Cavernous malformations (CMs) are vascular anomalies of the nervous system mostly located in the brain. Cerebral cavernous malformations (CCM) can occur sporadically or as an autosomal dominant condition, with incomplete penetrance and variable clinical ...
PIANE, Maria, CHESSA, Luciana, GRIPPAUDO, Francesca Romana, M. Amoroso, S. Penco, I. De Santis, L. Alesi, SANTANELLI DI POMPEO, Fabio, LULLI, Patrizia   +8 more
core  

Unveiling a Novel Molecular Interaction and Pro-Metastatic Signaling Cascades Driven by KRIT1. [PDF]

Int J Mol Sci
Paradisi L, Guazzi P, Macis M, Finetti F, Trezza A, De Paolo R, Roncetti M, Marshall JF, Poliseno L, Finetti F, Trabalzini L.   +10 more
europepmc   +1 more source

PTEN/PKM2/ERα-Driven Glyoxalase 1 Overexpression Sustains PC3 Prostate Cancer Cell Growth Through MG-H1/RAGE Pathway Desensitization Leading to H₂O₂-Dependent KRIT1 Downregulation. [PDF]

Antioxidants (Basel)
Manfredelli D, Torcoli C, Pariano M, Bellezza G, Baroni T, Talesa VN, Sidoni A, Antognelli C.   +7 more
europepmc   +1 more source

Transient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation. [PDF]

Cureus
Scott ML, Ross DE.
europepmc   +1 more source

Flow-Sensitive HEG1 Controls eNOS Activity to Prevent Endothelial Dysfunction, Hypertension, and Atherosclerosis. [PDF]

Arterioscler Thromb Vasc Biol
Clark MD, Kim Y, Romero CA, Kang DW, Baek KI, Song EJ, Kellum CE, Bowman-Kirigin JA, Park C, Hung RC, Choi L, Kapoor V, Tsuji S, Pollock JS, Jo H.   +14 more
europepmc   +1 more source

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene. [PDF]

Neurogenetics
Pilz RA, Begemann M, Pfister S, Boonsawat P, Rauch A, Kurth I, Felbor U, Rath M.   +7 more
europepmc   +1 more source

Cerebral cavernous malformation with secondary bacterial infection: illustrative case. [PDF]

J Neurosurg Case Lessons
Gujjari KS, Farsakh A, Mariajoseph FP, Chen BY, Thomas A, Kumar B, Badran A.   +6 more
europepmc   +1 more source