cAMP: A master regulator of cadherin‐mediated binding in endothelium, epithelium and myocardium
Acta Physiologica, Volume 238, Issue 4, August 2023., 2023 Abstract Regulation of cadherin‐mediated cell adhesion is crucial not only for maintaining tissue integrity and barrier function in the endothelium and epithelium but also for electromechanical coupling within the myocardium. Therefore, loss of cadherin‐mediated adhesion causes various disorders, including vascular inflammation and desmosome‐related ...
Franziska Vielmuth +4 more
wiley +1 more source
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 +5 more
doaj +1 more source
Clinicoradiologic data of familial cerebral cavernous malformation with age‐related disease burden
Annals of Clinical and Translational Neurology, Volume 10, Issue 3, Page 373-383, March 2023., 2023 Abstract 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. However, previous studies paid little attention to analyzing the radiologic features and age‐related disease burden according to the genes.
Seondeuk Kim +8 more
wiley +1 more source
Unexpected distribution of KRIT1 inside the nucleus: new insight in a complex molecular pathway
European Journal of Histochemistry, 2014 KRIT1 is an 84kDa protein that lacks any relevant catalytic domains, associated with the cerebral cavernous malformation disease. We have investigated by means of ultrastructural immunocytochemistry the nuclear distribution of KRIT1 in different cell ...
S. Marzo, V. Galimberti, M. Biggiogera
doaj +1 more source
KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis [PDF]
Human Molecular Genetics, 2002 Mutations in KRIT1, a protein initially identified based on a yeast two-hybrid interaction with the RAS-family GTPase RAP1A, are responsible for the development of the inherited vascular disorder cerebral cavernous malformations (CCM1). As the function of the KRIT1 protein and its role in CCM pathogenesis remain unknown, we performed yeast two-hybrid ...
Jon S, Zawistowski +4 more
openaire +2 more sources
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients [PDF]
, 2017 [Objective] To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.[Methods] We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries
Delgado-Valverde, Mercedes +9 more
core +1 more source
Nuclear Localization of Integrin Cytoplasmic Domain-associated Protein-1 (ICAP1) Influences β1 Integrin Activation and Recruits Krev/Interaction Trapped-1 (KRIT1) to the Nucleus [PDF]
Journal of Biological Chemistry, 2017 Binding of ICAP1 (integrin cytoplasmic domain-associated protein-1) to the cytoplasmic tails of β1 integrins inhibits integrin activation. ICAP1 also binds to KRIT1 (Krev interaction trapped-1), a protein whose loss of function leads to cerebral cavernous malformation, a cerebrovascular dysplasia occurring in up to 0.5% of the population. We previously
Kyle M. Draheim +3 more
openaire +2 more sources
Small GTPase Rap1 Is Essential for Mouse Development and Formation of Functional Vasculature [PDF]
, 2015 BACKGROUND: Small GTPase Rap1 has been implicated in a number of basic cellular functions, including cell-cell and cell-matrix adhesion, proliferation and regulation of polarity.
Chrzanowska-Wodnicka, Magdalena +3 more
core +2 more sources
Heterozygous Loss of KRIT1 in Mice Affects Metabolic Functions of the Liver, Promoting Hepatic Oxidative and Glycative Stress [PDF]
, 2022 KRIT1 loss-of-function mutations underlie the pathogenesis of Cerebral Cavernous Malformation (CCM), a major vascular disease affecting the central nervous system (CNS).
Aimaretti, Eleonora +9 more
core +2 more sources
Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation
Case Reports in Neurology, 2016 Introduction: Cerebral cavernous malformation (CCM) is a vascular disorder characterized by the presence of central nervous system cavernomas. In familial forms, mutations in three genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) were identified.
João Pedro Marto +3 more
doaj +1 more source