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
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
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy. [PDF]
, 2018 BACKGROUND: Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain.
Al-Olabi, L +45 more
core +4 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
miR-21 coordinates tumor growth and modulates KRIT1 levels
Biochemical and Biophysical Research Communications, 2013 miR-21 is overexpressed in tumors and it displays oncogenic activity. Here, we show that expression of miR-21 in primary tumors anticorrelates with KRIT1/CCM1, an interacting partner of the Ras-like GTPase Rap1, involved in Cerebral Cavernous Malformations (CCM).
ORSO, FRANCESCA +5 more
openaire +5 more sources
Structures of Ras superfamily effector complexes: What have we learnt in two decades? [PDF]
, 2015 The Ras superfamily small G proteins are master regulators of a diverse range of cellular processes and act via downstream effector molecules. The first structure of a small G protein-effector complex, that of Rap1A with c-Raf1, was published 20 years ...
Mott, Helen R, Owen, Darerca
core +1 more source
Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene [PDF]
, 2015 Multiple familial meningiomas occur in rare genetic syndromes, particularly neurofibromatosis type 2. The association of meningiomas and cerebral cavernous malformations (CCMs) has been reported in few patients in the medical literature.
Al-Shahi Salman R +14 more
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