Results 11 to 20 of about 3,837 (194)

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

Epicardial CCM2 Promotes Cardiac Development and Repair Via its Regulation on Cytoskeletal Reorganization [PDF]

JACC: Basic to Translational Science
Summary: The epicardium provides epicardial-derived cells and molecular signals to support cardiac development and regeneration. Zebrafish and mouse studies have shown that ccm2, a cerebral cavernous malformation disease gene, is essential for cardiac ...
Rui Wang, PhD, Dongbo Lu, BS, Renhua Song, PhD, Luping Du, PhD, Xi Yang, PhD, Shi-ting Wu, PhD, Xiaohong Wang, PhD, Justin Wong, PhD, Zhelong Xu, MBBS, PhD, Qiang Zhao, PhD, Renjing Liu, PhD, Xiangjian Zheng, PhD   +11 more
doaj   +4 more sources

A novel CCM2 gene mutation associated with family cerebral cavernous malformation [PDF]

Frontiers in Aging Neuroscience, 2016
Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma.
Wen-Qing Huang, Wen-Qing Huang, Cong-Xia Lu, Ya Zhang, Ya Zhang, Ke-Hui Yi, Liang-Liang Cai, Liang-Liang Cai, Ming-Li Li, Ming-Li Li, Han Wang, Han Wang, Qing Lin, Qing Lin, Chi-Meng Tzeng, Chi-Meng Tzeng, Chi-Meng Tzeng   +16 more
doaj   +4 more sources

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds [PDF]

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2017
Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family ...
Barkhof, F. (Frederik), Cohn-Hokke, P.E. (P.), Flier, W.M. (Wiesje) van der, Holstege, H. (Henne), Meijers-Heijboer, E.J. (Hanne), Pijnenburg, Y.A.L. (Yolande), Scheltens, P. (Philip), Sistermans, E.A. (Erik), Swieten, J.C. (John) van, Weiss, M.M. (Marjan M.)   +9 more
core   +7 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

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

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

Live or Let Die: CCM2 Provides the Link [PDF]

Neuron, 2009
TrkA receptors are well known for promoting neuronal cell survival. However, in some neuroblastic tumors, TrkA activation can instead induce apoptosis. In this issue of Neuron, Harel et al. identify CCM2 as a mediator of TrkA-dependent cell death, suggesting that CCM2 is a distinctive type of tumor suppressor that modulates tyrosine kinase signaling.
Gruber-Olipitz, Mariella, Segal, Rosalind A.   +1 more
openaire   +5 more sources

Genetic analysis of a family presenting with coexisting cerebral cavernous malformations and polycystic kidney disease

Journal of the Formosan Medical Association, 2022
Hereditary cerebral cavernous malformations (CCMs) are characterized by clustered dilated capillary-like vessels in the brain. Autosomal dominant polycystic kidney disease (PKD) is characterized by renal cysts and extra-renal abnormalities.
Pei-Feng Hsieh, Shih-Yao Liu, Chih-Hao Chen, Pei-Lung Chen, Sung-Chun Tang, Jiann-Shing Jeng   +5 more
doaj   +1 more source

In-silico analysis of nonsynonymous genomic variants within CCM2 gene reaffirm the existence of dual cores within typical PTB domain

Biochemistry and Biophysics Reports, 2022
Purpose: The objective of this study is to validate the existence of dual cores within the typical phosphotyrosine binding (PTB) domain and to identify potentially damaging and pathogenic nonsynonymous coding single nuclear polymorphisms (nsSNPs) in the ...
Akhil Padarti, Ofek Belkin, Johnathan Abou-Fadel, Jun Zhang   +3 more
doaj   +1 more source