Abstract:
:Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases. Age at diagnosis and family history may increase the yield of mutations screening. In order to assess whether Next-Generation Sequencing (NGS) may fulfil the molecular diagnostic needs in HCM, we included 17 HCM-related genes in a sequencing panel run on PGM IonTorrent. We selected 70 HCM patients, 35 with early (≤25 years) and 35 with late (≥65 years) diagnosis of disease onset. All samples had a 98.6% average of target regions, with coverage higher than 20× (mean coverage 620×). We identified 41 different mutations (seven of them novel) in nine genes: MYBPC3 (17/41 = 41%); MYH7 (10/41 = 24%); TNNT2, CAV3 and MYH6 (3/41 = 7.5% each); TNNI3 (2/41 = 5%); GLA, MYL2, and MYL3 (1/41=2.5% each). Mutation detection rate was 30/35 (85.7%) in early-onset and 8/35 (22.9%) in late-onset HCM patients, respectively (p < 0.0001). The overall detection rate for patients with positive family history was 84%, and 90.5% in patients with early disease onset. In our study NGS revealed higher mutations yield in patients with early onset and with a family history of HCM. Appropriate patient selection can increase the yield of genetic testing and make diagnostic testing cost-effective.
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Rubattu S,Bozzao C,Pennacchini E,Pagannone E,Musumeci BM,Piane M,Germani A,Savio C,Francia P,Volpe M,Autore C,Chessa Ldoi
10.3390/ijms17081239subject
Has Abstractpub_date
2016-07-30 00:00:00issue
8issn
1422-0067pii
ijms17081239journal_volume
17pub_type
杂志文章abstract::Inhibition of cholinesterases remains one of a few available treatment strategies for neurodegenerative dementias such as Alzheimer's disease and related conditions. The current study was inspired by previous data on anticholinesterase properties of diterpenoids from Perovskia atriplicifolia and other Lamiaceae specie...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms21124475
更新日期:2020-06-23 00:00:00
abstract::The present study was designed to probe the effects of Huperzine A (HupA) on diabetes-associated cognitive decline (DACD) using a streptozotocin (STZ)-injected rat model. Diabetic rats were treated with HupA (0.05 and 0.1 mg/kg) for seven weeks. Memory functions were evaluated by the water maze test. Nissl staining wa...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms15057667
更新日期:2014-05-05 00:00:00
abstract::Humans are exposed to phthalates released from plastics, cosmetics, or food on a daily basis. Phthalates have low acute liver toxicity, but their chronic exposures could induce molecular and cellular effects linked to adverse health outcomes, such as liver tumor promotion or chronic liver diseases. The alternation of ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms21176069
更新日期:2020-08-23 00:00:00
abstract::Suboptimal early-life conditions affect the developing kidney, resulting in long-term programming effects, namely renal programming. Adverse renal programming increases the risk for developing hypertension and kidney disease in adulthood. Conversely, reprogramming is a strategy aimed at reversing the programming proce...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms19061744
更新日期:2018-06-12 00:00:00
abstract::Histone H1 is the most variable histone and its role at the epigenetic level is less characterized than that of core histones. In vertebrates, H1 is a multigene family, which can encode up to 11 subtypes. The H1 subtype composition is different among cell types during the cell cycle and differentiation. Mass spectrome...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms21165941
更新日期:2020-08-18 00:00:00
abstract::Remote ischemic conditioning (RIC) confers cardioprotection in patients with ST-segment elevation myocardial infarction (STEMI). Despite intense research, the translation of RIC into clinical practice remains a challenge. This may, at least partly, be due to confounding factors that may modify the efficacy of RIC. The...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms20133246
更新日期:2019-07-02 00:00:00
abstract::Chemerin, a novel adipokine, has been associated with metabolic, inflammatory, and atherosclerotic diseases. We aimed to determine the genetic basis of chemerin levels by conducting a genome-wide association study (GWAS) and to investigate the role of RARRES2 polymorphisms and circulating chemerin levels in the long-t...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20051174
更新日期:2019-03-07 00:00:00
abstract::Cyclin-dependent kinase 5 regulatory subunit 1 (CDK5R1) gene encodes for p35, the main activator of Cyclin-dependent kinase 5 (CDK5). The active p35/CDK5 complex is involved in numerous aspects of brain development and function, and its deregulation is closely associated to Alzheimer's disease (AD) onset and progressi...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms19072022
更新日期:2018-07-11 00:00:00
abstract::Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of genetic mutations in ACVLR1 and ENG encoding for prote...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms19103203
更新日期:2018-10-17 00:00:00
abstract::Manganese oxidizing bacteria can produce biogenic manganese oxides (BMO) on their cell surface and have been applied in the fields of agriculture, bioremediation, and drinking water treatment to remove toxic contaminants based on their remarkable chemical reactivity. Herein, we report for the first time the synthetic ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms21051709
更新日期:2020-03-02 00:00:00
abstract::Larix olgensis Henry is an important coniferous species found in plantation forests in northeastern China, but it is vulnerable to pathogens. Nitric oxide (NO) is an important molecule involved in plant resistance to pathogens. To study the regulatory role of NO at the transcriptional level, we characterized the trans...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms161226117
更新日期:2015-12-02 00:00:00
abstract::Wound healing is an important process in the human body to protect against external threats. A dysregulation at any stage of the wound healing process may result in the development of various intractable ulcers or excessive scar formation. Numerous factors such as growth factors, cytokines, and chemokines are involved...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms21228435
更新日期:2020-11-10 00:00:00
abstract::Down syndrome (DS), the most common cause of intellectual disability of genetic origin, is characterized by alterations in central nervous system morphology and function that appear from early prenatal stages. However, by the fourth decade of life, all individuals with DS develop neuropathology identical to that found...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms21186906
更新日期:2020-09-20 00:00:00
abstract::A Mucoralean fungus was isolated from Caatinga soil of Pernambuco, Northeast of Brazil, and was identified as Cunninghamella echinulata by morphological, physiological, and biochemical tests. This strain was evaluated for biosurfactant/bioemulsifier production using soybean oil waste (SOW) and corn steep liquor (CSL) ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms150915377
更新日期:2014-09-01 00:00:00
abstract::Aqueous solutions of isovaline and its precursor molecule, 5-ethyl-5-methylhydantoin, were irradiated with ultraviolet and γ-ray photons, to evaluate their structural stability against space radiation. The degree of photolysis was measured and irradiation products were identified using chiral, reversed-phase and ion-e...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms13011006
更新日期:2012-01-01 00:00:00
abstract::NRF2 (Nuclear factor Erythroid 2-related Factor 2) signaling is impaired in Friedreich's Ataxia (FRDA), an autosomal recessive disease characterized by progressive nervous system damage and degeneration of nerve fibers in the spinal cord and peripheral nerves. The loss of frataxin in patients results in iron sulfur cl...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20205211
更新日期:2019-10-21 00:00:00
abstract::Atherosclerosis is a multifactorial chronic disease that affects large arteries and may lead to fatal consequences. According to current understanding, inflammation and lipid accumulation are the two key mechanisms of atherosclerosis development. Animal models based on genetically modified mice have been developed to ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms21062097
更新日期:2020-03-18 00:00:00
abstract::Various strategies have been employed to speed tissue regeneration using bioactive molecules. Interestingly, platelet concentrates derived from a patient's own blood have been utilized as a regenerative strategy in recent years. In the present study, a novel liquid platelet formulation prepared without the use of anti...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms18020331
更新日期:2017-02-04 00:00:00
abstract::The reaction product of nitric oxide and superoxide, peroxynitrite, is a potent biological oxidant. The most important oxidative protein modifications described for peroxynitrite are cysteine-thiol oxidation and tyrosine nitration. We have previously demonstrated that intrinsic heme-thiolate (P450)-dependent enzymatic...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms14047542
更新日期:2013-04-08 00:00:00
abstract::Humans express an expansive and detailed response to wavelength differences within the electromagnetic (EM) spectrum. This is most clearly manifest, and most studied, with respect to a relatively small range of electromagnetic radiation that includes the visible wavelengths with abutting ultraviolet and infrared, and ...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms21218020
更新日期:2020-10-28 00:00:00
abstract::miR-29a is a conserved miRNA that participates in bone formation and immune response in vertebrates. miR-29a of Pinctada martensii (Pm-miR-29a) was identified in the previous research though deep sequencing. In this report, the precise sequence of mature Pm-miR-29a was validated using miRNA rapid amplification of cDNA...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms161226182
更新日期:2015-12-10 00:00:00
abstract::In the last decade, the development of radiogenomics research has produced a significant amount of papers describing relations between imaging features and several molecular 'omic signatures arising from next-generation sequencing technology and their potential role in the integrated diagnostic field. The most vulnera...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20236033
更新日期:2019-11-29 00:00:00
abstract::In recent years, ongoing interest in ischemic brain injury research has provided data showing that ischemic episodes are involved in the development of Alzheimer's disease-like neuropathology. Brain ischemia is the second naturally occurring neuropathology, such as Alzheimer's disease, which causes the death of neuron...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms19124002
更新日期:2018-12-12 00:00:00
abstract::Kombucha tea (KT) has emerged as a substance that protects the liver from damage; however, its mechanisms of action on the fatty liver remain unclear. Therefore, we investigated the potential role of KT and its underlying mechanisms on nonalcoholic fatty liver disease (NAFLD). db/db mice that were fed methionine/choli...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms20092369
更新日期:2019-05-13 00:00:00
abstract::Binding affinity prediction of potential drugs to target and off-target proteins is an essential asset in drug development. These predictions require the calculation of binding free energies. In such calculations, it is a major challenge to properly account for both the dynamic nature of the protein and the possible v...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms15010798
更新日期:2014-01-09 00:00:00
abstract::Axitinib is an orally available inhibitor of tyrosine kinases, with high specificity for vascular endothelial growth factor receptors (VEGFRs) 1, 2, and 3. It is approved for the treatment of advanced renal cell carcinoma and is in phase II clinical trials for recurrent glioblastoma (GBM). GBM is a brain tumor peculia...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms21041490
更新日期:2020-02-21 00:00:00
abstract::There is a complex collection of neuroendocrine function during the postpartum period. Prolactin (PRL) released by suckling stimulus and its PRL receptors (PRL-R) in the central nervous system (CNS) are involved in hyporesponsiveness of the hypothalamic-pituitary-adrenal (HPA) axis in lactating mammals including roden...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms18071370
更新日期:2017-06-27 00:00:00
abstract::Epithelial ovarian cancer (EOC) is the deadliest tumor among gynecological cancer in the industrialized countries. The EOC incidence and mortality have remained unchanged over the last 30 years, despite the progress in diagnosis and treatment. In order to develop novel and more effective therapeutic approaches, the mo...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms17091387
更新日期:2016-08-23 00:00:00
abstract::When Clostridium tetani was discovered and identified as a Gram-positive anaerobic bacterium of the genus Clostridium, the possibility of turning its toxin into a valuable biological carrier to ameliorate neurodegenerative processes was inconceivable. However, the non-toxic carboxy-terminal fragment of the tetanus tox...
journal_title:International journal of molecular sciences
pub_type: 杂志文章,评审
doi:10.3390/ijms13066883
更新日期:2012-01-01 00:00:00
abstract::Ruscogenin, an important steroid sapogenin derived from Ophiopogon japonicus, has been shown to inhibit cerebral ischemic injury. However, its potential molecular action on blood-brain barrier (BBB) dysfunction after stroke remains unclear. This study aimed to investigate the effects of ruscogenin on BBB dysfunction a...
journal_title:International journal of molecular sciences
pub_type: 杂志文章
doi:10.3390/ijms17091418
更新日期:2016-08-29 00:00:00