Search Results - "Cardiomegaly - genetics"

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry by Grange, Dorothy K, Roessler, Helen I, McClenaghan, Conor, Duran, Karen, Shields, Kathleen, Remedi, Maria S, Knoers, Nine V A M, Lee, Jin-Moo, Kirk, Edwin P, Scurr, Ingrid, Smithson, Sarah F, Singh, Gautam K, van Haelst, Mieke M, Nichols, Colin G, van Haaften, Gijs

“… We report phenotypic features and associated genotypes on 74 CS subjects, with confirmed ABCC9 variants in 72 of the individuals…”
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Crotonylation of NAE1 Modulates Cardiac Hypertrophy via Gelsolin Neddylation by Ju, Jie, Wang, Kai, Liu, Fang, Liu, Cui-Yun, Wang, Yun-Hong, Wang, Shao-Cong, Zhou, Lu-Yu, Li, Xin-Min, Wang, Yu-Qin, Chen, Xin-Zhe, Li, Rui-Feng, Xu, Shi-Jun, Chen, Chen, Zhang, Mei-Hua, Yang, Su-Min, Tian, Jin-Wei, Wang, Kun

“… Crotonylation levels were detected in both human and mouse subjects with cardiac hypertrophy through immunoprecipitation and Western blot assays. Tandem mass tag (TMT…”
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Long Non-Coding RNA-ROR Mediates the Reprogramming in Cardiac Hypertrophy by Jiang, Feng, Zhou, Xiangyu, Huang, Jing

“…Cardiac hypertrophy associated with various cardiovascular diseases results in heart failure and sudden death. A clear understanding of the mechanisms of…”
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Cardiomyocyte-specific deletion of the vitamin D receptor gene results in cardiac hypertrophy by Chen, Songcang, Law, Christopher S, Grigsby, Christopher L, Olsen, Keith, Hong, Ting-Ting, Zhang, Yan, Yeghiazarians, Yerem, Gardner, David G

“…A variety of studies carried out using either human subjects or laboratory animals suggest that vitamin D and its analogues possess important beneficial activity in the cardiovascular system…”
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HDAC inhibition attenuates cardiac hypertrophy by acetylation and deacetylation of target genes by Ooi, Jenny Y Y, Tuano, Natasha K, Rafehi, Haloom, Gao, Xiao-Ming, Ziemann, Mark, Du, Xiao-Jun, El-Osta, Assam

“…Pharmacological histone deacetylase (HDAC) inhibitors attenuate pathological cardiac remodeling and hypertrophic gene expression; yet, the direct histone…”
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Transgenic overexpression of macrophage matrix metalloproteinase-9 exacerbates age-related cardiac hypertrophy, vessel rarefaction, inflammation, and fibrosis by Toba, Hiroe, Cannon, Presley L, Yabluchanskiy, Andriy, Iyer, Rugmani Padmanabhan, D'Armiento, Jeanine, Lindsey, Merry L

“…Advancing age is an independent risk factor for cardiovascular disease. Matrix metalloproteinase-9 (MMP-9) is secreted by macrophages and robustly increases in…”
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Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension by Gallo, Giovanna, Forte, Maurizio, Cotugno, Maria, Marchitti, Simona, Stanzione, Rosita, Tocci, Giuliano, Bianchi, Franca, Palmerio, Silvia, Scioli, Mariarosaria, Frati, Giacomo, Sciarretta, Sebastiano, Barbato, Emanuele, Volpe, Massimo, Rubattu, Speranza

“… Methods Two-hundred-forty-six subjects (147 male, 59.7%), with a mean age of 59 ± 15 years, were included for the genetic association analysis…”
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A Unique High‐Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome by Singh, Gautam K., McClenaghan, Conor, Aggarwal, Manish, Gu, Hongjie, Remedi, Maria S., Grange, Dorothy K., Nichols, Colin G.

“… Lack of recognition may pose diagnostic ambiguity and management complexities. Methods and Results We sought to systematically characterize high-output cardiac hypertrophy in subjects with Cantu syndrome (CS…”
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A Functional Polymorphism in Renalase (Glu37Asp) Is Associated with Cardiac Hypertrophy, Dysfunction, and Ischemia: Data from the Heart and Soul Study by Farzaneh-Far, Ramin, Desir, Gary V., Schiller, Nelson B., Whooley, Mary A.

“…Renalase is a soluble enzyme that metabolizes circulating catecholamines. A common missense polymorphism in the flavin-adenine dinucleotide-binding domain of…”
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Experimental and Human Evidence for Lipocalin‐2 (Neutrophil Gelatinase‐Associated Lipocalin [NGAL]) in the Development of Cardiac Hypertrophy and Heart Failure by Marques, Francine Z., Prestes, Priscilla R., Byars, Sean G., Ritchie, Scott C., Würtz, Peter, Patel, Sheila K., Booth, Scott A., Rana, Indrajeetsinh, Minoda, Yosuke, Berzins, Stuart P., Curl, Claire L., Bell, James R., Wai, Bryan, Srivastava, Piyush M., Kangas, Antti J., Soininen, Pasi, Ruohonen, Saku, Kähönen, Mika, Lehtimäki, Terho, Raitoharju, Emma, Havulinna, Aki, Perola, Markus, Raitakari, Olli, Salomaa, Veikko, Ala‐Korpela, Mika, Kettunen, Johannes, McGlynn, Maree, Kelly, Jason, Wlodek, Mary E., Lewandowski, Paul A., Delbridge, Lea M., Burrell, Louise M., Inouye, Michael, Harrap, Stephen B., Charchar, Fadi J.

“…; cultured cardiomyocytes; and 2 human cohorts: 114 type 2 diabetes mellitus patients and 2064 healthy subjects of the YFS (Young Finns Study…”
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Behavioral and cognitive functioning in individuals with Cantú syndrome by Roessler, Helen I., Heuvel, Lieke M., Shields, Kathleen, Guilliams, Kristin P., Knoers, Nine V. A. M., Haaften, Gijs, Grange, Dorothy K., Haelst, Mieke M.

“… published. To assess the cognitive profile, social functioning, and psychiatric symptoms in a large group of CS subjects systematically in a cross…”
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Endothelin‐1 Induces Myofibrillar Disarray and Contractile Vector Variability in Hypertrophic Cardiomyopathy–Induced Pluripotent Stem Cell–Derived Cardiomyocytes by Tanaka, Atsushi, Yuasa, Shinsuke, Mearini, Giulia, Egashira, Toru, Seki, Tomohisa, Kodaira, Masaki, Kusumoto, Dai, Kuroda, Yusuke, Okata, Shinichiro, Suzuki, Tomoyuki, Inohara, Taku, Arimura, Takuro, Makino, Shinji, Kimura, Kensuke, Kimura, Akinori, Furukawa, Tetsushi, Carrier, Lucie, Node, Koichi, Fukuda, Keiichi

“…Background Despite the accumulating genetic and molecular investigations into hypertrophic cardiomyopathy (HCM), it remains unclear how this condition develops…”
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Omentin-1 attenuates glucocorticoid-induced cardiac injury by phosphorylating GSK3β by Jin, Zhousheng, Xia, Fangfang, Dong, Jiaojiao, Lin, Tingting, Cai, Yaoyao, Chen, Jiali, Chen, Xixi, Huang, Zhenyang, Wang, Quanguang, Chen, Hongfei, Zhang, Junkai

“…Glucocorticoid excess often causes a variety of cardiovascular complications, including hypertension, atherosclerosis, and cardiac hypertrophy. To abrogate its…”
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GATA transcription factors in the developing and adult heart by Pikkarainen, Sampsa, Tokola, Heikki, Kerkelä, Risto, Ruskoaho, Heikki

“…During the past decade, emerging evidence has accumulated of different nuclear transcription factors in regulation of cardiac development and growth as well as…”
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Calpain inhibition in a transgenic model of calpastatin overexpression facilitates reversal of myocardial hypertrophy by Sachse, Gregor, Tennigkeit, Johanna, Pagonas, Nikolaos, Hillmeister, Philipp, Buschmann, Ivo, Czolbe, Martin, Nordbeck, Peter, Schmitt, Joachim, Patschan, Daniel, Ritter, Oliver

“…Aims It was recently demonstrated that the intracellular signalling phosphatase calcineurin is subject to cleavage by the protease calpain, resulting in a truncated calcineurin fragment that is a…”
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Cantú syndrome with coexisting familial pituitary adenoma by Marques, Pedro, Spencer, Rupert, Morrison, Patrick J., Carr, Ian M., Dang, Mary N., Bonthron, David T., Hunter, Steven, Korbonits, Márta

“…Context Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis…”
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Genetic polymorphisms of UTS2 rs2890565 Ser89Asn in cardiac hypertrophy in Chinese Han population by Zhao, Jing, Jiang, Jie, Wang, Jie, Liu, Lin, Han, Xiao-Ning, Chu, Song-Yun, Xue, Lin, Ding, Wen-Hui

“…ObjectiveCardiac hypertrophy is the heart's response to a variety of extrinsic and intrinsic stimuli, some of which might finally lead up to a maladaptive…”
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Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q by Hu, Jing, Tang, Ben, Wang, Jing, Huang, Kun, Wang, Yan, Lu, Shuai, Gowreesunkur, Hnkeshsing Baboo, Wang, Ya, Wu, Di, Mayala, Henry Anselmo, Wang, Zhao-hui

“… Gene analysis identified a missense mutation (Arg302Gln) in the five affected subjects of the family…”
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Using OPLS-DA to find new hypotheses in vast amounts of gene expression data — Studying the progression of cardiac hypertrophy in the heart of aorta ligated rat by Gennebäck, Nina, Malm, Linus, Hellman, Urban, Waldenström, Anders, Mörner, Stellan

“…One of the great problems facing science today lies in data mining of the vast amount of data. In this study we explore a new way of using orthogonal partial…”
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Coronary artery disease is associated with Alzheimer disease neuropathology in APOE4 carriers by Beeri, M S, Rapp, M, Silverman, J M, Schmeidler, J, Grossman, H T, Fallon, J T, Purohit, D P, Perl, D P, Siddiqui, A, Lesser, G, Rosendorff, C, Haroutunian, V

“… The authors examined 99 subjects (mean age at death = 87.6; SD = 8.7) from the Mount Sinai School of Medicine Department of Psychiatry Brain Bank who were devoid of cerebrovascular disease-associated lesions or of non-AD-related neuropathology…”
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