keyword
MENU ▼
Read by QxMD icon Read
search

Tnnc1

keyword
https://www.readbyqxmd.com/read/29879808/muscle-differentiation-induced-up-regulation-of-calcium-related-gene-expression-in-quail-myoblasts
#1
Jeong-Woong Park, Jeong Hyo Lee, Seo Woo Kim, Ji Seon Han, Kyung Soo Kang, Sung-Jo Kim, Tae Sub Park
Objective: In the poultry industry, the most important economic traits are meat quality and carcass yield. Thus, many studies were conducted to investigate the regulatory pathways during muscle differentiation. To gain insight of muscle differentiation mechanism during growth period, we identified and validated calcium-related genes which were highly expressed during muscle differentiation through mRNA sequencing analysis. Methods: We conducted mRNA next-generation-sequencing (NGS) analysis of mRNA from undifferentiated QM7 cells and differentiated QM7 cells (day 1 to day 3 of differentiation periods)...
May 31, 2018: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/29760079/selection-and-environmental-adaptation-along-a-path-to-speciation-in-the-tibetan-frog-nanorana-parkeri
#2
Guo-Dong Wang, Bao-Lin Zhang, Wei-Wei Zhou, Yong-Xin Li, Jie-Qiong Jin, Yong Shao, He-Chuan Yang, Yan-Hu Liu, Fang Yan, Hong-Man Chen, Li Jin, Feng Gao, Yaoguang Zhang, Haipeng Li, Bingyu Mao, Robert W Murphy, David B Wake, Ya-Ping Zhang, Jing Che
Tibetan frogs, Nanorana parkeri , are differentiated genetically but not morphologically along geographical and elevational gradients in a challenging environment, presenting a unique opportunity to investigate processes leading to speciation. Analyses of whole genomes of 63 frogs reveal population structuring and historical demography, characterized by highly restricted gene flow in a narrow geographic zone lying between matrilines West (W) and East (E). A population found only along a single tributary of the Yalu Zangbu River has the mitogenome only of E, whereas nuclear genes of W comprise 89-95% of the nuclear genome...
May 14, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29709087/identification-of-sarcomeric-variants-in-probands-with-a-clinical-diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy-arvc
#3
Brittney Murray, Edgar T Hoorntje, Anneline S J M Te Riele, Crystal Tichnell, Jeroen F van der Heijden, Harikrishna Tandri, Maarten P van den Berg, Jan D H Jongbloed, Arthur A M Wilde, Richard N W Hauer, Hugh Calkins, Daniel P Judge, Cynthia A James, J Peter van Tintelen, Dennis Dooijes
AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by ventricular arrhythmias and sudden death. Currently 60% of patients meeting Task Force Criteria (TFC) have an identifiable mutation in one of the desmosomal genes. As much overlap is described between other cardiomyopathies and ARVC, we examined the prevalence of rare, possibly pathogenic sarcomere variants in the ARVC population. METHODS: One hundred and thirty-seven (137) individuals meeting 2010 TFC for a diagnosis of ARVC, negative for pathogenic desmosomal variants, TMEM43, SCN5A, and PLN were screened for variants in the sarcomere genes (ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNC1, TNNI3, TNNT2, and TPM1) through either clinical or research genetic testing...
April 30, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29300489/itraq-based-proteomic-analysis-reveals-recovery-of-impaired-mitochondrial-function-in-ischemic-myocardium-by-shenmai-formula
#4
Yi Wang, Yu Zhao, Wei Jiang, Xiaoping Zhao, Guanwei Fan, Han Zhang, Peiqiang Shen, Jiangmin He, Xiaohui Fan
Shenmai formula (SM) has been a traditional medicinal remedy for treating cardiovascular diseases in China for 800 years; however, its mechanism of action remains unclear. To explore the mechanism underlying cardioprotective effects of SM, iTRAQ-based proteomic approach was applied to analyze protein of myocardium in rats with myocardial ischemic injury. Upon treatment with SM and its two major components Red ginseng (RG) and Radix Ophiopogonis (OP), 101 differentially expressed proteins were filtered from a total of 712 detected and annotated proteins...
February 2, 2018: Journal of Proteome Research
https://www.readbyqxmd.com/read/29093449/abnormal-contractility-in-human-heart-myofibrils-from-patients-with-dilated-cardiomyopathy-due-to-mutations-in-ttn-and-contractile-protein-genes
#5
Petr G Vikhorev, Natalia Smoktunowicz, Alex B Munster, O'Neal Copeland, Sawa Kostin, Cecile Montgiraud, Andrew E Messer, Mohammad R Toliat, Amy Li, Cristobal G Dos Remedios, Sean Lal, Cheavar A Blair, Kenneth S Campbell, Maya Guglin, Ralph Knoll, Steven B Marston
Dilated cardiomyopathy (DCM) is an important cause of heart failure. Single gene mutations in at least 50 genes have been proposed to account for 25-50% of DCM cases and up to 25% of inherited DCM has been attributed to truncating mutations in the sarcomeric structural protein titin (TTNtv). Whilst the primary molecular mechanism of some DCM-associated mutations in the contractile apparatus has been studied in vitro and in transgenic mice, the contractile defect in human heart muscle has not been studied. In this study we isolated cardiac myofibrils from 3 TTNtv mutants, and 3 with contractile protein mutations (TNNI3 K36Q, TNNC1 G159D and MYH7 E1426K) and measured their contractility and passive stiffness in comparison with donor heart muscle as a control...
November 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28838967/molecular-regulation-of-high-muscle-mass-in-developing-blonde-d-aquitaine-cattle-foetuses
#6
Isabelle Cassar-Malek, Céline Boby, Brigitte Picard, Antonio Reverter, Nicholas J Hudson
The Blonde d'Aquitaine (BA) is a French cattle breed with enhanced muscularity, partly attributable to a MSTN mutation. The BA m. Semitendinosus has a faster muscle fibre isoform phenotype comprising a higher proportion of fast type IIX fibres compared to age-matched Charolais (CH). To better understand the molecular network of modifications in BA compared to CH muscle, we assayed the transcriptomes of the m. Semitendinosus at 110, 180, 210 and 260 days postconception (dpc). We used a combination of differential expression (DE) and regulatory impact factors (RIF) to compare and contrast muscle gene expression between the breeds...
October 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28771489/additional-value-of-screening-for-minor-genes-and-copy-number-variants-in-hypertrophic-cardiomyopathy
#7
Irene Mademont-Soler, Jesus Mates, Raquel Yotti, Maria Angeles Espinosa, Alexandra Pérez-Serra, Ana Isabel Fernandez-Avila, Monica Coll, Irene Méndez, Anna Iglesias, Bernat Del Olmo, Helena Riuró, Sofía Cuenca, Catarina Allegue, Oscar Campuzano, Ferran Picó, Carles Ferrer-Costa, Patricia Álvarez, Sergio Castillo, Pablo Garcia-Pavia, Esther Gonzalez-Lopez, Laura Padron-Barthe, Aranzazu Díaz de Bustamante, María Teresa Darnaude, José Ignacio González-Hevia, Josep Brugada, Francisco Fernandez-Aviles, Ramon Brugada
INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants (CNVs) deserves further evaluation. METHODS: Three hundred and eighty-seven consecutive unrelated patients with HCM were screened for genetic variants in the 5 most frequent genes (MYBPC3, MYH7, TNNT2, TNNI3 and TPM1) using Sanger sequencing (N = 84) or NGS (N = 303)...
2017: PloS One
https://www.readbyqxmd.com/read/28521630/isolated-ventricular-noncompaction-cardiomyopathy-presenting-as-fetal-hydrops-at-24-weeks-gestation
#8
Jane E Armes, Lisa Squires, Rohan Lourie, Mark Williams, Renee Gallagher, Gareth Price, Andrew Stubbs, Sigrid Ma Swagemakers, Peter J van der Spek, James Harraway, Joseph Thomas, Deon J Venter
Ventricular noncompaction cardiomyopathy is a rare form of congenital cardiomyopathy with increasing evidence of genetic etiology, 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 noncompaction. 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 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28473771/hypertrophic-cardiomyopathy-cardiac-troponin-c-mutations-differentially-affect-slow-skeletal-and-cardiac-muscle-regulation
#9
Tiago Veltri, Maicon Landim-Vieira, Michelle S Parvatiyar, David Gonzalez-Martinez, Karissa M Dieseldorff Jones, Clara A Michell, David Dweck, Andrew P Landstrom, P Bryant Chase, Jose R Pinto
Mutations in TNNC1 -the gene encoding cardiac troponin C (cTnC)-that have been associated with hypertrophic cardiomyopathy (HCM) and cardiac dysfunction may also affect Ca2+ -regulation and function of slow skeletal muscle since the same gene is expressed in both cardiac and slow skeletal muscle. Therefore, we reconstituted rabbit soleus fibers and bovine masseter myofibrils with mutant cTnCs (A8V, C84Y, E134D, and D145E) associated with HCM to investigate their effects on contractile force and ATPase rates, respectively...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28356264/screening-of-the-filamin-c-gene-in-a-large-cohort-of-hypertrophic-cardiomyopathy-patients
#10
Juan Gómez, Rebeca Lorca, Julian R Reguero, César Morís, María Martín, Salvador Tranche, Belén Alonso, Sara Iglesias, Victoria Alvarez, Beatriz Díaz-Molina, Pablo Avanzas, Eliecer Coto
BACKGROUND: Recent exome sequencing studies identified filamin C (FLNC) as a candidate gene for hypertrophic cardiomyopathy (HCM). Our aim was to determine the rate of FLNC candidate variants in a large cohort of HCM patients who were also sequenced for the main sarcomere genes. METHODS AND RESULTS: A total of 448 HCM patients were next generation-sequenced (semiconductor chip technology) for the MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, TNNC1, MYL2, MYL3, TPM1, and FLNC genes...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28056232/-analysis-of-cardiac-troponin-c-gene-tnnc1-c-g175c-mutation-in-a-chinese-pedigree-with-familial-hypertrophic-cardiomyopathy-and-the-correlation-between-genotype-and-phenotype
#11
X B Xing, F S Liu, F Wang, L Song, W N Zhao, J Liu, K C Zhang, Y Z Zhu, X F Shang, R Li, Y Liang
Objective: To investigate the genotype-phenotype correlation in Chinese familial hypertrophic cardiomyopathy (HCM )focusing on the cardiac troponin C gene TNNC1 c. G175C mutation. Methods: All family members of a Chinese pedigree with hypertrophic cardiomyopathy admitted in Third People's Hospital of Qingdao in February 2005 and 200 healthy volunteers were included in this study. The coding exons of 30 hypertrophic cardiomyopathy associated genes were identified by whole exons amplification and high-throughput sequencing in the proband, and the identified mutation were further detected through bi-directional Sanger sequencing in all family members and 200 healthy volunteers...
December 24, 2016: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/27713166/mfap5-and-tnnc1-potential-markers-for-predicting-occult-cervical-lymphatic-metastasis-and-prognosis-in-early-stage-tongue-cancer
#12
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...
January 10, 2017: 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
#13
REVIEW
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...
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27574918/spectrum-of-mutations-in-hypertrophic-cardiomyopathy-genes-among-tunisian-patients
#14
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 cardiac genetic 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...
November 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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
64288
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"