Disseminated cavernous malformations due to KRIT1 gene mutation causing seizure and spastic paraparesis [PDF]
Annals of Indian Academy of NeurologySaranya B Gomathy +3 more
doaj +2 more sources
Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report. [PDF]
, 2016 When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited ...
Skytte, Anne-Bine +2 more
core +2 more sources
Impaired retinoic acid signaling in cerebral cavernous malformations
Scientific Reports, 2023 The capillary-venous pathology cerebral cavernous malformation (CCM) is caused by loss of CCM1/Krev interaction trapped protein 1 (KRIT1), CCM2/MGC4607, or CCM3/PDCD10 in some endothelial cells.
Nastasja Grdseloff +9 more
doaj +1 more source
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
Two cases of familial cerebral cavernous malformation caused by mutations in the gene [PDF]
Korean Journal of Pediatrics, 2016 Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue.
Im-Yong Yang +5 more
doaj +1 more source
Is Location Everything? Regulation of the Endothelial CCM Signaling Complex
Frontiers in Cardiovascular Medicine, 2022 Recent advances have steadily increased the number of proteins and pathways known to be involved in the development of cerebral cavernous malformation (CCM).
Harsha Swamy, Angela J. Glading
doaj +1 more source
Zebrafish models of cerebrovascular disease [PDF]
, 2014 Perturbations in cerebral blood flow and abnormalities in blood vessel structure are the hallmarks of cerebrovascular disease. While there are many genetic and environmental factors that affect these entities through a heterogeneous group of disease ...
Peterson, Randall T, Walcott, Brian P
core +1 more source
Estudios genéticos en pacientes y familias con sospecha de enfermedades neurovasculares hereditarias
Kranion, 2023 Introducción: Las enfermedades neurovasculares minoritarias como CADASIL, cavernomatosis múltiple familiar o arteriopatía de moyamoya requieren un abordaje diagnóstico multidisciplinario que incluya un panel genético.
Sara Banda +21 more
doaj +1 more source
Nieuw rechts en de verzorgingsstaat [PDF]
, 2013 Volgens veel wetenschappers onderscheiden nieuw-rechtse populistische partijen zich van andere partijen door hun nadruk op een autoritaire culturele agenda. Als zelfverklaarde verdedigers van de belangen van de autochtone ‘gewone man’ nemen nieuw-rechtse
Achterberg, P.H.J. (Peter) +2 more
core +1 more source
Proteolytic remodelling of the extracellular matrix by pericytes
The FEBS Journal, EarlyView.Pericytes are specialised perivascular cells intimately connected with endothelial cells and essential for the maintenance of vascular beds. They contribute to the formation and remodelling of the extracellular matrix by actively secreting proteases and protease inhibitors.
Tina Burkhard +4 more
wiley +1 more source