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https://www.readbyqxmd.com/read/29169046/a-novel-ccm1-krit1-heterozygous-deletion-mutation-c-1919delt-in-a-chinese-family-with-familial-cerebral-cavernous-malformation
#1
Chenlong Yang, Bingquan Wu, Haohao Zhong, Yan Li, Xingzheng Zheng, Yulun Xu
BACKGROUND: Cerebral cavernous malformation (CCM) is a relatively rare congenital vascular anomaly in the central venous system. Its inherited form, familial cerebral cavernous malformation (FCCM), is an autosomal-dominant disease with incomplete penetrance. The pathogenic genes of FCCM have been mapped into three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Till now, the genetic basis of FCCM in the Chinese population has yet to be well understood. Herein, we investigated the genetic mutation in a Chinese family with FCCM...
November 20, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29145060/familial-cerebral-cavernous-malformation-report-of-a-novel-krit1-mutation-in-a-portuguese-family
#2
Inês Rosário Marques, Francisco Antunes, Nadine Ferreira, Miguel Grunho
Cerebral cavernous malformations (CCMs) are vascular malformations which may occur in familial forms which have autosomal dominant inheritance. Mutations have been identified in three genes: KRIT1, MGC4607 and PDCD10. We have documented a novel mutation on KRIT1 gene, and the second to be reported in a Portuguese family. This mutation consists in a two nucleotide insertion (c.947_948insAC) within the exon 10, resulting in premature protein termination (p.Leu317Argfs*2). These findings will hopefully contribute to a better clinical, imaging and genetic characterisation of this disease, particularly while trying to identify the factors that influence its treatment and prognosis...
November 10, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28892037/induction-and-micro-ct-imaging-of-cerebral-cavernous-malformations-in-mouse-model
#3
Jaesung P Choi, Xi Yang, Matthew Foley, Xian Wang, Xiangjian Zheng
Mutations in the CCM1 (aka KRIT1), CCM2, or CCM3 (aka PDCD10) gene cause cerebral cavernous malformation (CCM) in humans. Mouse models of CCM disease have been established by tamoxifen induced deletion of Ccm genes in postnatal animals. These mouse models provide invaluable tools to investigate molecular mechanism and therapeutic approaches for CCM disease. An accurate and quantitative method to assess lesion burden and progression is essential to harness the full value of these animal models. Here, we demonstrate the induction of CCM disease in a mouse model and the use of the contrast enhanced X-ray micro computed tomography (micro-CT) method to measure CCM lesion burden in mouse brains...
September 4, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28734041/mir-103-functions-as-a-tumor-suppressor-by-directly-targeting-programmed-cell-death-10-in-nsclc
#4
Dong Yang, Jian-Jun Wang, Jin-Song Li, Qian-Yu Xu
NSCLC accounts for about 85% of all lung cancer cases. Absence of miR-103 has recently identified to be associated withmetastatic capacity of primary lung tumors. However, the exact role of miR-103 in NSCLC and the molecular mechanism is unclear. In the present study, we showed that miR-103 expression was reduced in NSCLC tissues and cells. miR-103 expression was negatively correlated with tumor size and stage. The overall survival was longer in patients with higher miR-103 level than in those with lower miR-103 expression...
July 21, 2017: Oncology Research
https://www.readbyqxmd.com/read/28645800/high-throughput-sequencing-of-the-entire-genomic-regions-of-ccm1-krit1-ccm2-and-ccm3-pdcd10-to-search-for-pathogenic-deep-intronic-splice-mutations-in-cerebral-cavernous-malformations
#5
Matthias Rath, Sönke E Jenssen, Konrad Schwefel, Stefanie Spiegler, Dana Kleimeier, Christian Sperling, Lars Kaderali, Ute Felbor
Cerebral cavernous malformations (CCM) are vascular lesions of the central nervous system that can cause headaches, seizures and hemorrhagic stroke. Disease-associated mutations have been identified in three genes: CCM1/KRIT1, CCM2 and CCM3/PDCD10. The precise proportion of deep-intronic variants in these genes and their clinical relevance is yet unknown. Here, a long-range PCR (LR-PCR) approach for target enrichment of the entire genomic regions of the three genes was combined with next generation sequencing (NGS) to screen for coding and non-coding variants...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28371279/ephb4-forward-signalling-mediates-angiogenesis-caused-by-ccm3-pdcd10-ablation
#6
Chao You, Kai Zhao, Philipp Dammann, Kathy Keyvani, Ilonka Kreitschmann-Andermahr, Ulrich Sure, Yuan Zhu
CCM3, also named as PDCD10, is a ubiquitous protein expressed in nearly all tissues and in various types of cells. It is essential for vascular development and post-natal vessel maturation. Loss-of-function mutation of CCM3 predisposes for the familial form of cerebral cavernous malformation (CCM). We have previously shown that knock-down of CCM3 stimulated endothelial angiogenesis via impairing DLL4-Notch signalling; moreover, loss of endothelial CCM3 stimulated tumour angiogenesis and promoted tumour growth...
September 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28285997/ccm-3-promotes-c-%C3%A2-elegans-germline-development-by-regulating-vesicle-trafficking-cytokinesis-and-polarity
#7
Swati Pal, Benjamin Lant, Bin Yu, Ruilin Tian, Jiefei Tong, Jonathan R Krieger, Michael F Moran, Anne-Claude Gingras, W Brent Derry
Cerebral cavernous malformations (CCMs) are vascular defects of the CNS that arise from loss of integrity of the endothelial cells lining blood capillaries, causing leakage of blood into the brain [1]. This results in headaches, seizures, and/or hemorrhagic stroke, depending on the location of the lesion. CCM affects 0.5% of the population and follows an autosomal dominant inheritance pattern caused by mutations in one of the three genes: CCM1 (gene name KRIT1), CCM2 (also known as malcavernin or OSM), and CCM3 (gene name PDCD10) [2, 3], with the earliest onset and most severe prognosis occurring in CCM3 patients [4]...
March 20, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28181149/genome-wide-sequencing-reveals-micrornas-downregulated-in-cerebral-cavernous-malformations
#8
Souvik Kar, Kiran Kumar Bali, Arpita Baisantry, Robert Geffers, Amir Samii, Helmut Bertalanffy
Cerebral cavernous malformations (CCM) are vascular lesions associated with loss-of-function mutations in one of the three genes encoding KRIT1 (CCM1), CCM2, and PDCD10. Recent understanding of the molecular mechanisms that lead to CCM development is limited. The role of microRNAs (miRNAs) has been demonstrated in vascular pathologies resulting in loss of tight junction proteins, increased vascular permeability and endothelial cell dysfunction. Since the relevance of miRNAs in CCM pathophysiology has not been elucidated, the primary aim of the study was to identify the miRNA-mRNA expression network associated with CCM...
February 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28160210/a-novel-krit1-ccm1-gene-insertion-mutation-associated-with-cerebral-cavernous-malformations-in-a-chinese-family
#9
Hui Wang, Yunzhu Pan, Zaiqiang Zhang, Xingang Li, Zhe Xu, Yue Suo, Wei Li, Yongjun Wang
Familial cerebral cavernous malformation (FCCM) is a vascular malformation disorder that closely associated with three identified genes: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Here, we present a Chinese family affected by FCCM due to a novel KRIT1/CCM1 insertion mutation. The proband was hospitalized for sudden unconsciousness and underwent surgical treatment. The section of lesions showed classical cavernous-dilated vessels without intervening brain parenchyma, and hemosiderin-laden macrophages were accumulated in the surrounding tissue...
February 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28000143/update-on-novel-ccm-gene-mutations-in-patients-with-cerebral-cavernous-malformations
#10
Concetta Scimone, Placido Bramanti, Concetta Alafaci, Francesca Granata, Francesco Piva, Carmela Rinaldi, Luigi Donato, Federica Greco, Antonina Sidoti, Rosalia D'Angelo
Cerebral cavernous malformations (CCMs) are lesions affecting brain microvessels. The pathogenesis is not clearly understood. Conventional classification criterion is based on genetics, and thus, familial and sporadic forms can be distinguished; however, classification of sporadic cases with multiple lesions still remains uncertain. To date, three CCM causative genes have been identified: CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. In our previous mutation screening, performed in a cohort of 95 Italian patients, with both sporadic and familial cases, we identified several mutations in CCM genes...
February 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27896269/cerebral-cavernous-malformations-review-of-the-genetic-and-protein-protein-interactions-resulting-in-disease-pathogenesis
#11
REVIEW
Jacob F Baranoski, M Yashar S Kalani, Colin J Przybylowski, Joseph M Zabramski
Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of cerebral cavernous malformations (CCMs). CCMs are intracranial lesions composed of aberrantly enlarged "cavernous" endothelial channels that can result in cerebral hemorrhage, seizures, and neurologic deficits. Although these genes have been known to be associated with CCMs since the 1990s, numerous discoveries have been made that better elucidate how they and their subsequent protein products are involved in CCM pathogenesis...
2016: Frontiers in Surgery
https://www.readbyqxmd.com/read/27792856/review-of-familial-cerebral-cavernous-malformations-and-report-of-seven-additional-families
#12
REVIEW
Ivo J H M de Vos, Maaike Vreeburg, Ger H Koek, Maurice A M van Steensel
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability. Cerebral cavernous malformations can occur sporadically, or as a familial autosomal dominant disorder (FCCM) with incomplete clinical and neuroradiological penetrance and great inter-individual variability...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27790124/cerebral-cavernous-malformation-a-portuguese-family-with-a-novel-ccm1-mutation
#13
João Pedro Marto, Inês Gil, Sofia Calado, Miguel Viana-Baptista
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. We describe a Portuguese family harboring a novel CCM1 mutation. CASE PRESENTATION: The proband is a woman who at the age of 55 years started to have complex partial seizures and episodic headache. Although nothing was found during her neurological examination, brain MRI showed bilateral, supra- and infratentorial cavernomas...
September 2016: Case Reports in Neurology
https://www.readbyqxmd.com/read/27766163/krit1-mutations-in-three-japanese-pedigrees-with-hereditary-cavernous-malformation
#14
Kengo Hirota, Hiroyuki Akagawa, Asami Kikuchi, Hideki Oka, Akihiko Hino, Tetsuryu Mitsuyama, Toshiyuki Sasaki, Hideaki Onda, Takakazu Kawamata, Hidetoshi Kasuya
Cerebral cavernous malformation is a neurovascular abnormality that can cause seizures, focal neurological deficits and intracerebral hemorrhage. Familial forms of this condition are characterized by de novo formation of multiple lesions and are autosomal-dominantly inherited via CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 mutations. We identified three truncating mutations in KRIT1 from three Japanese families with CCMs: a novel frameshift mutation, a known frameshift mutation and a known splice-site mutation that had not been previously analyzed for aberrant splicing...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27737651/ccm3-serpini1-bidirectional-promoter-variants-in-patients-with-cerebral-cavernous-malformations-a-molecular-and-functional-study
#15
Concetta Scimone, Placido Bramanti, Alessia Ruggeri, Luigi Donato, Concetta Alafaci, Concetta Crisafulli, Massimo Mucciardi, Carmela Rinaldi, Antonina Sidoti, Rosalia D'Angelo
BACKGROUND: Cerebral cavernous malformations (CCMs) are vascular anomalies of the nervous system mostly located in the brain presenting sporadically or familial. Causes of familial forms are mutations in CCM1 (Krit1), CCM2 (MGC4607) and CCM3 (PDCD10) genes. Sporadic forms with no affected relative most often have only one lesion and no germ line mutations. However, a number of sporadic cases with multiple lesions have been reported and are indeed genetic cases with a de novo mutation or a mutation inherited from an asymptomatic parent...
October 13, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27649701/identification-of-a-novel-deletion-mutation-c-1780delg-and-a-novel-splice-site-mutation-c-1412-1g-a-in-the-ccm1-krit1-gene-associated-with-familial-cerebral-cavernous-malformation-in-the-chinese-population
#16
Chenlong Yang, Jizong Zhao, Bingquan Wu, Haohao Zhong, Yan Li, Yulun Xu
Cerebral cavernous malformation (CCM) is a congenital vascular anomaly predominantly located within the central nervous system. Its familial forms (familial cerebral cavernous malformation (FCCM)), inherited in an autosomal dominant manner with incomplete penetrance, are attributed to mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes. To date, little is known about the genetic alterations leading to FCCM in the Chinese population. We aimed to investigate the genetic defect of FCCM by DNA sequencing in Chinese families...
January 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27639680/oxidative-stress-and-inflammation-in-cerebral-cavernous-malformation-disease-pathogenesis-two-sides-of-the-same-coin
#17
Saverio Francesco Retta, Angela J Glading
Cerebral Cavernous Malformation (CCM) is a vascular disease of proven genetic origin, which may arise sporadically or is inherited as an autosomal dominant condition with incomplete penetrance and highly variable expressivity. CCM lesions exhibit a range of different phenotypes, including wide inter-individual differences in lesion number, size, and susceptibility to intracerebral hemorrhage (ICH). Lesions may remain asymptomatic or result in pathological conditions of various type and severity at any age, with symptoms ranging from recurrent headaches to severe neurological deficits, seizures, and stroke...
December 2016: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/27587990/fam222b-is-not-a-likely-novel-candidate-gene-for-cerebral-cavernous-malformations
#18
Stefanie Spiegler, Bettina Kirchmaier, Matthias Rath, G Christoph Korenke, Fabian Tetzlaff, Maartje van de Vorst, Kornelia Neveling, Amparo Acker-Palmer, Andreas W Kuss, Christian Gilissen, Andreas Fischer, Stefan Schulte-Merker, Ute Felbor
Cerebral cavernous malformations (CCMs) are prevalent slow-flow vascular lesions which harbour the risk to develop intracranial haemorrhages, focal neurological deficits, and epileptic seizures. Autosomal dominantly inherited CCMs were found to be associated with heterozygous inactivating mutations in 3 genes, CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) in 1999, 2003 and 2005, respectively. Despite the availability of high-throughput sequencing techniques, no further CCM gene has been published since. Here, we report on the identification of an autosomal dominantly inherited frameshift mutation in a gene of thus far unknown function, FAM222B (C17orf63), through exome sequencing of CCM patients mutation-negative for CCM1-3...
July 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27561926/genetic-screening-of-pediatric-cavernous-malformations
#19
Elisa Merello, Marco Pavanello, Alessandro Consales, Samantha Mascelli, Alessandro Raso, Andrea Accogli, Armando Cama, Capra Valeria, Patrizia De Marco
Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Heterozygous loss of function mutations in CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10 genes are identified in about 90 % of familial cases of CCMs and two thirds of sporadic cases with multiple lesions. In this study, we performed genetic screening of a cohort of 31 patients, mainly pediatric. We analyzed the CCM1, CCM2, and CCM3 genes by multiplex ligation-dependent probe amplification (MLPA) and direct sequencing of exons and intronic boundaries...
October 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27548575/endothelial-exocytosis-of-angiopoietin-2-resulting-from-ccm3-deficiency-contributes-to-cerebral-cavernous-malformation
#20
Huanjiao Jenny Zhou, Lingfeng Qin, Haifeng Zhang, Wenwen Tang, Weidong Ji, Yun He, Xiaoling Liang, Zongren Wang, Qianying Yuan, Alexander Vortmeyer, Derek Toomre, Germaine Fuh, Minghong Yan, Martin S Kluger, Dianqing Wu, Wang Min
Cerebral cavernous malformations (CCMs) are vascular malformations that affect the central nervous system and result in cerebral hemorrhage, seizure and stroke. CCMs arise from loss-of-function mutations in one of three genes: KRIT1 (also known as CCM1), CCM2 or PDCD10 (also known as CCM3). PDCD10 mutations in humans often result in a more severe form of the disease relative to mutations in the other two CCM genes, and PDCD10-knockout mice show severe defects, the mechanistic basis for which is unclear. We have recently reported that CCM3 regulates exocytosis mediated by the UNC13 family of exocytic regulatory proteins...
September 2016: Nature Medicine
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