Results 1 to 10 of about 3,720 (135)

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients. [PDF]

PLoS ONE, 2014
ObjectiveTo study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.MethodsWe analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries in 94
Rufino Mondéjar, Francisca Solano, Rocío Rubio, Mercedes Delgado, Angel Pérez-Sempere, Antonio González-Meneses, Teresa Vendrell, Guillermo Izquierdo, Amalia Martinez-Mir, Miguel Lucas   +9 more
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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
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Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations [PDF]

EMBO Molecular Medicine
Cerebral cavernous malformations (CCMs) are anomalies of the cerebral vasculature. Loss of the CCM proteins CCM1/KRIT1, CCM2, or CCM3/PDCD10 trigger a MAPK-Krüppel-like factor 2 (KLF2) signaling cascade, which induces a pathophysiological pattern of gene
Van-Cuong Pham, Claudia Jasmin Rödel, Mariaelena Valentino, Matteo Malinverno, Alessio Paolini, Juliane Münch, Candice Pasquier, Favour C Onyeogaziri, Bojana Lazovic, Romuald Girard, Janne Koskimäki, Melina Hußmann, Benjamin Keith, Daniel Jachimowicz, Franziska Kohl, Astrid Hagelkruys, Josef M Penninger, Stefan Schulte-Merker, Issam A Awad, Ryan Hicks, Peetra U Magnusson, Eva Faurobert, Massimiliano Pagani, Salim Abdelilah-Seyfried   +23 more
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Force-mediated recruitment and reprogramming of healthy endothelial cells drive vascular lesion growth [PDF]

Nature Communications
Force-driven cellular interactions are crucial for cancer cell invasion but remain underexplored in vascular abnormalities. Cerebral cavernous malformations (CCM), a vascular abnormality characterized by leaky vessels, involves CCM mutant cells ...
Apeksha Shapeti, Jorge Barrasa-Fano, Abdel Rahman Abdel Fattah, Janne de Jong, José Antonio Sanz-Herrera, Mylène Pezet, Said Assou, Emilie de Vet, Seyed Ali Elahi, Adrian Ranga, Eva Faurobert, Hans Van Oosterwyck   +11 more
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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
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Genetic inactivation of the β1 adrenergic receptor prevents cerebral cavernous malformations in zebrafish [PDF]

eLife
Previously, we showed that propranolol reduces experimental murine cerebral cavernous malformations (CCMs) and prevents embryonic caudal venous plexus (CVP) lesions in zebrafish that follow mosaic inactivation of ccm2 (Li et al., 2021).
Wenqing Li, Sara McCurdy, Miguel A Lopez-Ramirez, Ho-Sup Lee, Mark H Ginsberg   +4 more
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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
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Multi-tissue expression and splicing data prioritise anatomical subsite- and sex-specific colorectal cancer susceptibility genes [PDF]

Nature Communications
Genome-wide association studies have suggested numerous colorectal cancer (CRC) susceptibility genes, but their causality and therapeutic potential remain unclear.
Emma Hazelwood, Daffodil M. Canson, Benedita Deslandes, Xuemin Wang, Pik Fang Kho, Danny Legge, Andrei-Emil Constantinescu, Matthew A. Lee, D. Timothy Bishop, Andrew T. Chan, Stephen B. Gruber, Jochen Hampe, Loic Le Marchand, Michael O. Woods, Rish K. Pai, Stephanie L. Schmit, Jane C. Figueiredo, Wei Zheng, Jeroen R. Huyghe, Neil Murphy, Marc J. Gunter, Tom G. Richardson, Vicki L. J. Whitehall, Emma E. Vincent, Dylan M. Glubb, Tracy A. O’Mara   +25 more
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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
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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
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