Results 1 to 10 of about 1,477 (122)

Compound Heterozygous Loss‐of‐Function Variants in CCM2L in a Fetus With Tetralogy of Fallot [PDF]

Molecular Genetics & Genomic Medicine
Background Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. However, our current understanding of the genetic etiology for TOF is limited.
Dandan Ling, Wanqin Xie, Xiao Mao, Zhiyu Liu, Yabing Tang, Fanjuan Kong   +5 more
doaj   +3 more sources

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives. [PDF]

J Neurochem
Cerebral cavernous malformations (CCMs) are vascular lesions in the brain caused by inherited genetic mutations in the CCM1/2/3 genes that disrupt normal blood vessel function. This work demonstrates that these mutations lead to endothelial dysfunction, inflammation, and iron accumulation, which can be detected by magnetic resonance imaging (MRI) and ...
Fontes-Dantas FL, da Fontoura Galvão G, Cunha AM, de Sena Murteira Pinheiro P, Morandi V, de Souza JM.   +5 more
europepmc   +2 more sources

A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family

Frontiers in Neuroscience, 2021
Cerebral cavernous malformations (CCMs) are common vascular malformations in the central nervous system. Familial CCMs (FCCMs) are autosomal dominant inherited disease with incomplete penetrance and variable symptoms.
Guoqing Han, Huanhuan Qiao, Lin Han
exaly   +3 more sources

Dual recruitment of two CCM2 molecules to KRIT1 suppresses KLF4 expression [PDF]

Nature Communications
Regulated expression of Kruppel like factor (KLF) transcription factors is essential for normal maintenance of endothelial cells, but loss of either K-Rev interaction trapped 1 (KRIT1) or cerebral cavernous malformations 2 (CCM2) proteins results in ...
Clotilde Huet-Calderwood, Oriana S. Fisher, Sreya Das, Valerie L. Su, Titus J. Boggon, David A. Calderwood   +5 more
doaj   +2 more sources

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 ...
Jian Wu
exaly   +3 more sources

Integrative multi-omics analysis identifies key genes and colocalized signals associated with colorectal cancer risk [PDF]

BMC Cancer
Background Colorectal cancer (CRC) affects approximately 1.9 million people globally each year. While CRC development involves complex genetic and environmental interactions, the underlying molecular mechanisms remain incompletely understood.
Lianheng Xia, Jiaxin Wang, Jie Gao, Xuan Cui, Meiyu Song, Wukun Ding, Jiayuan Zhang   +6 more
doaj   +2 more sources

OMICS Profiling Identifies Signatures of Senescence in Osteogenesis Imperfecta Osteoblasts Counteracted by 4-PBA. [PDF]

J Cell Mol Med
ABSTRACT Mutations in collagen I are the most common cause of osteogenesis imperfecta (OI), leading to delayed protein folding and structurally abnormal molecules. While some aberrant collagen is secreted into the extracellular matrix (ECM), impairing bone quality, a significant fraction is retained intracellularly, disrupting osteoblast homeostasis. 4‐
Besio R, Maffioli E, Palladino E, Sala A, Garibaldi N, Izzi V, Forlino A, Tedeschi G.   +7 more
europepmc   +2 more sources

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Frontiers in Neurology, 2019
Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathogenic
Christiane D Much, Konrad Schwefel, Dariush Skowronek   +2 more
exaly   +3 more sources

The Role of Immune Infiltration and Oxidative Stress in the Progression of Cerebral Cavernous Malformation. [PDF]

Brain Behav
Mechanism of rupture hemorrhage in cerebral cavernous malformations. Environmental and immune factors promote the progression of lesions and induce the risk of abnormal formation or rupture of cerebrovascular vessels. Abstract Purpose of Review To review how the immune microenvironment and oxidative stress modulate the initiation, maturation, and ...
Zhu X, Yao Y, Yu T, Xiao X.
europepmc   +2 more sources

Cerebral Cavernous Malformation: From Genetics to Pharmacotherapy. [PDF]

Brain Behav
CCM1, CCM2, CCM3, MAP3K3, and PIK3CA genes mediate CCM pathogenesis by regulating the RhoA–ROCK, MAP3K3–KLF2/4, and PIK3CA–AKT–mTOR pathways, affecting processes such as cell migration, intercellular junctions, cell proliferation, inflammation, autophagy, EndMT, angiogenesis, and oxidative stress.
Zhang Z, Deng J, Sun W, Wang Z.
europepmc   +2 more sources