Rap1 and its effector KRIT1/CCM1 regulate β-catenin signaling [PDF]
Disease Models & Mechanisms, 2010 SUMMARYKRIT1, also called CCM1, is a member of a multiprotein complex that contains the products of the CCM2 and PDCD10 (also known as CCM3) loci. Heterozygous loss of any of the genes that encode these proteins leads to cerebral cavernous malformations (CCM), which are vascular lesions that are found in around 0.5% of humans.
Angela J, Glading, Mark H, Ginsberg
openaire +2 more sources
Tianshengyuan-1 (TSY-1) regulates cellular Telomerase activity by methylation of TERT promoter. [PDF]
, 2016 Telomere and Telomerase have recently been explored as anti-aging and anti-cancer drug targets with only limited success. Previously we showed that the Chinese herbal medicine Tianshengyuan-1 (TSY-1), an agent used to treat bone marrow deficiency, has a ...
Chow, Michelle +9 more
core +2 more sources
Krit1 inhibited proliferation and metastasis of human colon cancer via DPPIV signaling pathway [PDF]
, 2010 Oral presentationpublished_or_final_versionThe 15th Annual Research Conference of the Department of Medicine, The University of Hong Kong, Hong Kong, 16 January 2010. In Hong Kong Medical Journal, 2010, v. 16, suppl. 1, p.
Hung, IFN +7 more
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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
Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing
Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney +2 more
wiley +1 more source
A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation
Frontiers in Neurology, 2020 Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with ...
Lipeng Yang, Jian Wu, Jing Zhang
doaj +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
International Journal of Genomics, Volume 2026, Issue 1, 2026.B‐cell chronic lymphocytic leukemia (B‐CLL) is the most common hematological malignancy in adults. Its clinical course is heterogeneous, ranging from indolent forms with slow progression to aggressive variants refractory to conventional treatment.
Alexandra Chu +4 more
wiley +1 more source
Cardiovascular Diabetology, 2018 Background Antioxidant enzymes play a fundamental role in counteracting oxidative stress induced by high glucose. Although mitochondrial superoxide dismutase (SOD2) is the principal defence against the toxicity of superoxide anions, the mechanism of its ...
Lucia La Sala +4 more
doaj +1 more source
Familiäre Kavernome des Zentralnervensystems: Eine klinische und genetische Studie an 15 deutsche Familien [PDF]
, 2018 Zusammenfassung: 1928 beschrieb Hugo Friedrich Kufs erstmalig eine Familie mit zerebralen, retinalen und kutanen Kavernomen. Mittlerweile wurden über 300 weitere Familien beschrieben.
Andermann, E. +18 more
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