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https://www.readbyqxmd.com/read/27713166/mfap5-and-tnnc1-potential-markers-for-predicting-occult-cervical-lymphatic-metastasis-and-prognosis-in-early-stage-tongue-cancer
#1
Xi Yang, Kailiu Wu, Siyi Li, Longwei Hu, Jing Han, Dongwang Zhu, Xuerui Tian, Wei Liu, Zhen Tian, Laiping Zhong, Ming Yan, Chenping Zhang, Zhiyuan Zhang
The purpose of this study is to identify candidate genes that could predict prognosis of early-stage tongue squamous cell carcinoma (TSCC) and its occult cervical lymphatic metastasis by large-scale gene expression profiling. Tumor tissue and matched normal mucosa samples were collected from patients with TSCC and analyzed with Affymetrix HTA2.0 high-density oligonucleotide array. Differentially expressed genes in TSCC with cervical lymph node metastasis (CLNM) were further analyzed with Gene Ontology and Kyoto Encyclopedia of Genes and Genomes for their functions and related pathways...
October 4, 2016: Oncotarget
https://www.readbyqxmd.com/read/27604170/evidence-for-troponin-c-tnnc1-as-a-gene-for-autosomal-recessive-restrictive-cardiomyopathy-with-fatal-outcome-in-infancy
#2
Rafal Ploski, Malgorzata Rydzanicz, Tomasz M Ksiazczyk, Maria Franaszczyk, Agnieszka Pollak, Joanna Kosinska, Ewa Michalak, Piotr Stawinski, Lidia Ziolkowska, Zofia T Bilinska, Bozena Werner
Restrictive cardiomyopathy is a rare form of pediatric cardiac disease, for which the known genes include MYH7, TNNT2, TNNI3, ACTC1, and DES. We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). This association between restrictive cardiomyopathy and TNNC1 mutations was strengthened by prospective observations on the second pregnancy in the family which revealed, in the presence of the same TNNC1 genotype, prenatally diagnosed hypertrophic cardiomyopathy which evolved into restrictive cardiomyopathy, heart failure and death at the age of 9 months...
September 8, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27574918/spectrum-of-mutations-in-hypertrophic-cardiomyopathy-genes-among-tunisian-patients
#3
Nawel Jaafar, Juan Gómez, Ikram Kammoun, Ihsen Zairi, Wael Ben Amara, Salem Kachboura, Sondes Kraiem, Mohamed Hammami, Sara Iglesias, Belén Alonso, Eliecer Coto
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a common genetic cardiac disorder associated with heart failure and sudden death. Mutations in the cardiac sarcomere genes are found in approximately half of HCM patients and are more common among cases with a family history of the disease. Data about the mutational spectrum of the sarcomeric genes in HCM patients from Northern Africa are limited. The population of Tunisia is particularly interesting due to its Berber genetic background...
August 30, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27295221/three-slow-skeletal-muscle-troponin-genes-in-small-tailed-han-sheep-ovis-aries-molecular-cloning-characterization-and-expression-analysis
#4
Yan Sun, Guizhi Wang, Zhibin Ji, Tianle Chao, Zhaohua Liu, Xiaolong Wang, Guanqing Liu, Changhao Wu, Jianmin Wang
To explore the basic characteristics and expressing profile of the three slow skeletal muscle troponin genes TNNC1 (Troponin C type 1), TNNI1 (troponin I type 1) and TNNT1 (troponin T type 1). Three purebred Dorper sheep and another three purebred small-tailed Han sheep were selected. The sequence of the genes from the small-tailed Han sheep was cloned using rapid amplification of cDNA ends and reverse transcription-polymerase chain reaction; The characteristics of the predicted amino acids sequences were analyzed using bioinformatics analysis software; Gene expression analyses were performed using quantitative reverse transcription PCR...
September 2016: Molecular Biology Reports
https://www.readbyqxmd.com/read/27268302/isolated-ventricular-non-compaction-cardiomyopathy-presenting-as-fetal-hydrops-at-24-weeks-gestation-a-genomic-analysis
#5
Jane E Armes, Lisa Squires, Rohan Lourie, Mark Williams, Renee Gallagher, Gareth Price, Andrew Stubbs, Sigrid M A Swagemakers, Peter J van der Spek, James Harraway, Joseph T Thomas, Deon J Venter
: Ventricular non-compaction cardiomyopathy is a rare form of congenital cardiomyopathy with increasing evidence of genetic aetiology, especially when presenting in childhood. Fetal presentation is rare. We describe a case of fetal hydrops, presenting at 24 weeks gestation and leading to intrapartum death at 26 weeks gestation. Autopsy examination revealed characteristic features of left ventricular non-compaction. A genetic analysis identified a constellation of variants of unknown significance in MYH6, TNNC1 and MYBPC3, genes known to be important in sarcomeric function...
June 6, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/26458567/targeted-next-generation-sequencing-of-candidate-genes-reveals-novel-mutations-in-patients-with-dilated-cardiomyopathy
#6
Yue Zhao, Yue Feng, Yun-Mei Zhang, Xiao-Xue Ding, Yu-Zhu Song, A-Mei Zhang, Li Liu, Hong Zhang, Jia-Huan Ding, Xue-Shan Xia
Dilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure, and it is characterized by genetic and clinical heterogeneity, even for some patients with a very poor clinical prognosis; in the majority of cases, DCM necessitates a heart transplant. Genetic mutations have long been considered to be associated with this disease. At present, mutations in over 50 genes related to DCM have been documented. This study was carried out to elucidate the characteristics of gene mutations in patients with DCM...
December 2015: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/26406308/obscn-mutations-associated-with-dilated-cardiomyopathy-and-haploinsufficiency
#7
Steven Marston, Cecile Montgiraud, Alex B Munster, O'Neal Copeland, Onjee Choi, Cristobal Dos Remedios, Andrew E Messer, Elisabeth Ehler, Ralph Knöll
BACKGROUND: Studies of the functional consequences of DCM-causing mutations have been limited to a few cases where patients with known mutations had heart transplants. To increase the number of potential tissue samples for direct investigation we performed whole exon sequencing of explanted heart muscle samples from 30 patients that had a diagnosis of familial dilated cardiomyopathy and screened for potentially disease-causing mutations in 58 HCM or DCM-related genes. RESULTS: We identified 5 potentially disease-causing OBSCN mutations in 4 samples; one sample had two OBSCN mutations and one mutation was judged to be not disease-related...
2015: PloS One
https://www.readbyqxmd.com/read/26304555/in-vivo-analysis-of-troponin-c-knock-in-a8v-mice-evidence-that-tnnc1-is-a-hypertrophic-cardiomyopathy-susceptibility-gene
#8
Adriano S Martins, Michelle S Parvatiyar, Han-Zhong Feng, J Martijn Bos, David Gonzalez-Martinez, Milica Vukmirovic, Rajdeep S Turna, Marcos A Sanchez-Gonzalez, Crystal-Dawn Badger, Diego A R Zorio, Rakesh K Singh, Yingcai Wang, J-P Jin, Michael J Ackerman, Jose R Pinto
BACKGROUND: Mutations in thin-filament proteins have been linked to hypertrophic cardiomyopathy, but it has never been demonstrated that variants identified in the TNNC1 (gene encoding troponin C) can evoke cardiac remodeling in vivo. The goal of this study was to determine whether TNNC1 can be categorized as an hypertrophic cardiomyopathy susceptibility gene, such that a mouse model can recapitulate the clinical presentation of the proband. METHODS AND RESULTS: The TNNC1-A8V proband diagnosed with severe obstructive hypertrophic cardiomyopathy at 34 years of age exhibited mild-to-moderate thickening in left and right ventricular walls, decreased left ventricular dimensions, left atrial enlargement, and hyperdynamic left ventricular systolic function...
October 2015: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/26232335/structure-and-function-of-cardiac-troponin-c-tnnc1-implications-for-heart-failure-cardiomyopathies-and-troponin-modulating-drugs
#9
REVIEW
Monica X Li, Peter M Hwang
In striated muscle, the protein troponin complex turns contraction on and off in a calcium-dependent manner. The calcium-sensing component of the complex is troponin C, which is expressed from the TNNC1 gene in both cardiac muscle and slow-twitch skeletal muscle (identical transcript in both tissues) and the TNNC2 gene in fast-twitch skeletal muscle. Cardiac troponin C (cTnC) is made up of two globular EF-hand domains connected by a flexible linker. The structural C-domain (cCTnC) contains two high affinity calcium-binding sites that are always occupied by Ca(2+) or Mg(2+) under physiologic conditions, stabilizing an open conformation that remains anchored to the rest of the troponin complex...
October 25, 2015: Gene
https://www.readbyqxmd.com/read/26214486/screening-of-differentially-expressed-genes-in-the-muscles-of-rabbit-breeds-with-expression-profile-chip
#10
W Z Wang, T Li, L J Shi, X R Yan, Y L Pan, X S Wu
The molecular mechanism underlying muscle development in rabbits is not well-understood. In the current study, differentially-expressed genes were scanned using an expression profile chip in New Zealand white rabbits (introduced breed) and Fujian yellow rabbits (local breed), and some of the genes were tested using reverse transcription-polymerase chain reaction. The amplification results were consistent with the microarray data. Fourteen and 13 genes involved in muscle development were identified in the dorsal longissimus and leg muscles, respectively...
2015: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/25342278/mutation-analysis-of-the-main-hypertrophic-cardiomyopathy-genes-using-multiplex-amplification-and-semiconductor-next-generation-sequencing
#11
Juan Gómez, Julian R Reguero, César Morís, María Martín, Victoria Alvarez, Belén Alonso, Sara Iglesias, Eliecer Coto
BACKGROUND: Mutations in at least 30 genes have been linked to hypertrophic cardiomyopathy (HCM). Due to the large size of the main HCM genes, Sanger sequencing is labor intensive and expensive. The purpose was to develop a next-generation sequencing (NGS) procedure for the main HCM genes. METHODS AND RESULTS: Multiplex amplification of the coding exons of MYH7,MYBPC3,TNNT2,TNNI3,ACTC1,TNNC1,MYL2,MYL3, and TPM1 was designated, followed by NGS with the Ion Torrent PGM (Life Technologies)...
2014: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/25277212/calcium-dependent-fak-creb-tnnc1-signalling-mediates-the-effect-of-stromal-mfap5-on-ovarian-cancer-metastatic-potential
#12
Cecilia S Leung, Tsz-Lun Yeung, Kay-Pong Yip, Sunila Pradeep, Lavanya Balasubramanian, Jinsong Liu, Kwong-Kwok Wong, Lingegowda S Mangala, Guillermo N Armaiz-Pena, Gabriel Lopez-Berestein, Anil K Sood, Michael J Birrer, Samuel C Mok
Ovarian cancer is the most lethal gynaecologic malignancy in the United States, and advanced serous ovarian adenocarcinoma is responsible for most ovarian cancer deaths. However, the stroma-derived molecular determinants that modulate patient survival are yet to be characterized. Here we identify a stromal gene signature for advanced high-grade serous ovarian cancer using microdissected stromal ovarian tumour samples and find that stromal microfibrillar-associated protein 5 (MFAP5) is a prognostic marker for poor survival...
2014: Nature Communications
https://www.readbyqxmd.com/read/24961663/comprehensive-analysis-of-the-whole-transcriptomes-from-two-different-pig-breeds-using-rna-seq-method
#13
Katarzyna Ropka-Molik, Kacper Zukowski, Robert Eckert, Artur Gurgul, Katarzyna Piórkowska, Maria Oczkowicz
Next-generation sequencing RNA-Seq technology is a powerful tool that creates new possibilities for whole-transcriptome analysis. In our study, the RNA-Seq method was applied to analyze global changes in transcriptome from muscle tissue (m. semimembranosus) in two pig breeds (Pietrain and Polish Landrace, PL). The breeds differ in terms of muscularity, growth rate and reproduction traits. Using three different approaches (deseq, cufflinks and edger) and taking into account the most restrictive criteria, 35 genes differentially expressed between Pietrain and PL pigs were identified...
October 2014: Animal Genetics
https://www.readbyqxmd.com/read/24867377/role-of-skeletal-muscle-in-mandible-development
#14
REVIEW
Irena Rot, Snjezana Mardesic-Brakus, Willard J Costain, Mirna Saraga-Babic, Boris Kablar
As a continuation of the previous study on palate development (Rot and Kablar, 2013), here we explore the relationship between the secondary cartilage mandibular condyles (parts of the temporomandibular joint) and the contributions (mechanical and secretory) from the adjacent skeletal musculature. Previous analysis of Myf5-/-:MyoD-/- mouse fetuses lacking skeletal muscle demonstrated the importance of muscle contraction and static loading in mouse skeletogenesis. Among abnormal skeletal features, micrognathia (mandibular hypoplasia) was detected: small, bent and posteriorly displaced mandible...
November 2014: Histology and Histopathology
https://www.readbyqxmd.com/read/24691700/a-low-prevalence-of-sarcomeric-gene-variants-in-a-chinese-cohort-with-left-ventricular-non-compaction
#15
Tao Tian, Jizheng Wang, Hu Wang, Kai Sun, Yilu Wang, Lei Jia, Yubao Zou, Rutai Hui, Xianliang Zhou, Lei Song
Left ventricular non-compaction (LVNC) is genetically heterogeneous. It has been previously shown that LVNC is associated with defects in TAZ, DNTA, LDB3, YWHAE, MIB1, PRDM16, and sarcomeric genes. This study was aimed to investigate sarcomeric gene mutations in a Chinese population with LVNC. From 2004 to 2010, 57 unrelated Chinese patients with LVNC were recruited at Fuwai Hospital, Beijing, China. Detailed clinical evaluation was performed on the probands and available family members. DNA samples isolated from the peripheral blood of the index cases were screened for 10 sarcomeric genes, including MYH7, MYBPC3, MYL2, MYL3, MYH6, TNNC1, TNNT2, TNNI3, TPM1, and ACTC1...
March 2015: Heart and Vessels
https://www.readbyqxmd.com/read/24558114/titin-gene-mutations-are-common-in-families-with-both-peripartum-cardiomyopathy-and-dilated-cardiomyopathy
#16
Karin Y van Spaendonck-Zwarts, Anna Posafalvi, Maarten P van den Berg, Denise Hilfiker-Kleiner, Ilse A E Bollen, Karen Sliwa, Mariëlle Alders, Rowida Almomani, Irene M van Langen, Peter van der Meer, Richard J Sinke, Jolanda van der Velden, Dirk J Van Veldhuisen, J Peter van Tintelen, Jan D H Jongbloed
AIM: Peripartum cardiomyopathy (PPCM) can be an initial manifestation of familial dilated cardiomyopathy (DCM). We aimed to identify mutations in families that could underlie their PPCM and DCM. METHODS AND RESULTS: We collected 18 families with PPCM and DCM cases from various countries. We studied the clinical characteristics of the PPCM patients and affected relatives, and applied a targeted next-generation sequencing (NGS) approach to detect mutations in 48 genes known to be involved in inherited cardiomyopathies...
August 21, 2014: European Heart Journal
https://www.readbyqxmd.com/read/24521770/assessment-of-dna-damage-using-cytokinesis-block-micronucleus-cytome-assay-in-lymphocytes-of-dilated-cardiomyopathy-patients
#17
Sneha Sitaraman, K Thirumal Babu, Ars Badarinath, A Pazhanimuthu, Radha Saraswathy
Studies on the extent of DNA damage are undertaken to elucidate the nature and causes of genomic instability in any syndrome or disease progression in human. In this study, cytokinesis-block micronucleus cytome (CBMN Cyt) assay was employed to evaluate the extent of chromosomal instability or DNA damage in lymphocytes of patients suffering from dilated cardiomyopathy (DCM), a serious cardiac muscle disorder. Effect of DNA damage on the disease was also assessed by analysis of mutations in cardiac Troponin C type I (TNNC1) gene...
2014: Genetics Research
https://www.readbyqxmd.com/read/24506540/validation-of-biomarkers-for-loin-meat-quality-m-longissimus-of-pigs
#18
M Pierzchala, A J W Hoekman, P Urbanski, L Kruijt, L Kristensen, J F Young, N Oksbjerg, D Goluch, M F W te Pas
The aim of this study was to validate previously reported associations between microarray gene expression levels and pork quality traits using real-time PCR. Meat samples and meat quality data from 100 pigs were collected from a different pig breed to the one tested by microarray (Large White versus Pietrain) and a different country of origin (Denmark versus Germany). Ten genes (CARP, MB, CSRP3, TNNC1, VAPB, TNNI1, HSPB1, TNNT1, TIMP-1, RAD-like) were chosen from the original microarray study on the basis of the association between gene expression levels and the meat quality traits meat %, back fat, pH24, drip loss %, colour a*, colour b*, colour L*, WB-SF, SFA, MUFA, PUFA...
August 2014: Journal of Animal Breeding and Genetics, Zeitschrift Für Tierzüchtung und Züchtungsbiologie
https://www.readbyqxmd.com/read/24255072/the-disparate-twins-a-comparative-study-of-cxcr4-and-cxcr7-in-sdf-1%C3%AE-induced-gene-expression-invasion-and-chemosensitivity-of-colon-cancer
#19
COMPARATIVE STUDY
Doreen Heckmann, Patrick Maier, Stephanie Laufs, Li Li, Jonathan P Sleeman, Marcus J Trunk, Jörg H Leupold, Frederik Wenz, W Jens Zeller, Stefan Fruehauf, Heike Allgayer
PURPOSE: In colorectal cancer, increased expression of the CXC chemokine receptor 4 (CXCR4) has been shown to provoke metastatic disease due to the interaction with its ligand stromal cell-derived factor-1 (SDF-1). Recently, a second SDF-1 receptor, CXCR7, was found to enhance tumor growth in solid tumors. Albeit signaling cascades via SDF-1/CXCR4 have been intensively studied, the significance of the SDF-1/CXCR7-induced intracellular communication triggering malignancy is still only marginally understood...
February 1, 2014: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/23792212/mouse-embryonic-stem-cells-irradiated-with-%C3%AE-rays-differentiate-into-cardiomyocytes-but-with-altered-contractile-properties
#20
Paola Rebuzzini, Lorenzo Fassina, Francesca Mulas, Riccardo Bellazzi, Carlo Alberto Redi, Riccardo Di Liberto, Giovanni Magenes, James Adjaye, Maurizio Zuccotti, Silvia Garagna
Embryonic stem cells (ESCs) for their derivation from the inner cell mass of a blastocyst represent a valuable in vitro model to investigate the effects of ionizing radiation on early embryonic cellular response. Following irradiation, both human and mouse ESCs (mESCs) maintain their pluripotent status and the capacity to differentiate into embryoid bodies and to form teratomas. Although informative of the maintenance of a pluripotent status, these studies never investigated the capability of irradiated ESCs to form specific differentiated phenotypes...
August 30, 2013: Mutation Research
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