Read by QxMD icon Read


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
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 Ca(2+)-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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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"