Results 31 to 40 of about 1,834 (180)

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature

Frontiers in Neurology, 2022
BackgroundFamilial cerebral cavernous malformation (FCCM) is a vascular malformation disease closely linked to three identified genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3.
Wenyu Liu, Wenyu Liu, Ming Liu, Ming Liu, Di Lu, Di Lu, Jiwei Wang, Jiwei Wang, Zexin Cao, Zexin Cao, Xuchen Liu, Xuchen Liu, Zichao Feng, Zichao Feng, Bin Huang, Bin Huang, Xinyu Wang, Xinyu Wang   +17 more
doaj   +1 more source

Mechanism for KRIT1 Release of ICAP1-Mediated Suppression of Integrin Activation [PDF]

Molecular Cell, 2013
KRIT1 (Krev/Rap1 Interaction Trapped-1) mutations are observed in ∼40% of autosomal-dominant cerebral cavernous malformations (CCMs), a disease occurring in up to 0.5% of the population. We show that KRIT1 functions as a switch for β1 integrin activation by antagonizing ICAP1 (Integrin Cytoplasmic Associated Protein-1)-mediated modulation of "inside ...
Liu, Weizhi, Draheim, Kyle M., Zhang, Rong, Calderwood, David A., Boggon, Titus J.   +4 more
openaire   +5 more sources

ANKS1B Interacts with the Cerebral Cavernous Malformation Protein-1 and Controls Endothelial Permeability but Not Sprouting Angiogenesis.

PLoS ONE, 2015
Cerebral cavernous malformations are fragile blood vessel conglomerates in the central nervous system that are caused by mutations in the CCM1/KRIT1, CCM2 or CCM3 genes.
Stefanie E Herberich, Ralph Klose, Iris Moll, Wan-Jen Yang, Joycelyn Wüstehube-Lausch, Andreas Fischer   +5 more
doaj   +1 more source

KRIT1 is a differentially expressed gene in brain metastatic human breast cancer.

, 2021
Metastasis to the brain is a clinical problem in patients with breast cancer (1-3). We mined published microarray data (4, 5) to compare primary and metastatic tumor transcriptomes for the discovery of genes associated with brain metastasis in humans ...
Shahan Mamoor
core   +1 more source

Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene

BMC Neurology, 2003
Background Cerebral cavernous malformations (CCM) present as either sporadic or autosomal dominant conditions with incomplete penetrance of symptoms. Differences in genetic and environmental factors might be minimized among first-degree relatives.
Gamero Miguel A, Solano Francisca, García-Moreno José M, Costa Alzenire F, Lucas Miguel, Izquierdo Guillermo   +5 more
doaj   +1 more source

The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation

Interdisciplinary Neurosurgery, 2021
Background and Objectives: Cerebral cavernous malformation (CCM) is a neurovascular disease characterized by abnormally expanded and tortuous microvessels with increased predisposition to thrombosis and focal hemorrhage.
Autilia Tommasina Buonagura, Teresa Somma, Francesca Vitulli, Giuseppina Vitiello, Immacolata Andolfo, Felice Esposito, Roberta Russo, Achille Iolascon, Paolo Cappabianca   +8 more
doaj   +1 more source

Nd1-L may cooperate with KRIT1 in modulating the expression levels of SOD2.

, 2013
KRIT1-null (Krit1-) and KRIT1-expressing (Krit1+) MEF cells grown under standard conditions were either mock transfected (−) or transfected with Flag-Nd1-L cDNA (+), and cell lysates were analyzed by Western blot. The expression levels of Flag-Nd1-L were
Lorenza Trabalzini (308642), Valentina Cutano (308638), Saverio Francesco Retta (245151), Elisa Ferro (308637), Chiara Martino (308640), Luca Goitre (245127), Paolo Guazzi (308636)   +6 more
core   +1 more source

: Rap1 regulates Krit1 microtubule and lipid binding

, 2007
International audienceThe small G protein Rap1 regulates diverse cellular processes such as integrin activation, cell adhesion, cell-cell junction formation and cell polarity.
Béraud-Dufour, Sophie, Faurobert, Eva, Chardin, Pierre, Gautier, Romain, Albiges-Rizo, Corinne   +4 more
core   +1 more source

Clinicoradiologic data of familial cerebral cavernous malformation with age‐related disease burden

Annals of Clinical and Translational Neurology, 2023
Objective Familial cerebral cavernous malformation (FCCM) is an autosomal dominant disease induced by loss‐of‐function mutations in three CCM genes, KRIT1, CCM2, and PDCD10.
Seondeuk Kim, Jangsup Moon, Keun‐Hwa Jung, Seon‐Jae Ahn, Han Sang Lee, Yoonhyuk Jang, Kyung‐Il Park, Sang Kun Lee, Kon Chu   +8 more
doaj   +1 more source

Nd1-L and KRIT1 associate in HUVEC cells.

, 2013
Lysates from HUVEC cells were immunoprecipitated with anti-KRIT1 polyclonal antibody or an unrelated antibody as negative control followed by SDS-PAGE and western blotting with an anti-Nd1 antibody (upper panel).
Lorenza Trabalzini (308642), Valentina Cutano (308638), Saverio Francesco Retta (245151), Elisa Ferro (308637), Chiara Martino (308640), Luca Goitre (245127), Paolo Guazzi (308636)   +6 more
core   +1 more source