{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Riaz M"],"funding":["NIDCR NIH HHS","NHLBI NIH HHS","NIGMS NIH HHS"],"pagination":["1238-1253"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9109819"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["145(16)"],"pubmed_abstract":["<h4>Background</h4>Familial hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and is typically caused by mutations in genes encoding sarcomeric proteins that regulate cardiac contractility. HCM manifestations include left ventricular hypertrophy and heart failure, arrythmias, and sudden cardiac death. How dysregulated sarcomeric force production is sensed and leads to pathological remodeling remains poorly understood in HCM, thereby inhibiting the efficient development of new therapeutics.<h4>Methods</h4>Our discovery was based on insights from a severe phenotype of an individual with HCM and a second genetic alteration in a sarcomeric mechanosensing protein. We derived cardiomyocytes from patient-specific induced pluripotent stem cells and developed robust eng"],"journal":["Circulation"],"pubmed_title":["Muscle LIM Protein Force-Sensing Mediates Sarcomeric Biomechanical Signaling in Human Familial Hypertrophic Cardiomyopathy."],"pmcid":["PMC9109819"],"funding_grant_id":["R01 HL136590","R01 HL131940","R21 HL126025","F31 HL143924","T32 GM007324","T32 GM007205","R01 DE025664","K02 HL101990"],"pubmed_authors":["Ellis MW","Liu J","Chen IP","Park J","Yazawa M","Young LH","Yang L","Campbell SG","Qiu C","Ren Y","Pomianowski PT","Jacoby DL","Schwan J","Song L","Sewanan LR","Hwa J","Huang Y","Luo J","Marboe CC","Qyang Y","Das SK","Tellides G","Riaz M"],"additional_accession":[]},"is_claimable":false,"name":"Muscle LIM Protein Force-Sensing Mediates Sarcomeric Biomechanical Signaling in Human Familial Hypertrophic Cardiomyopathy.","description":"<h4>Background</h4>Familial hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and is typically caused by mutations in genes encoding sarcomeric proteins that regulate cardiac contractility. HCM manifestations include left ventricular hypertrophy and heart failure, arrythmias, and sudden cardiac death. How dysregulated sarcomeric force production is sensed and leads to pathological remodeling remains poorly understood in HCM, thereby inhibiting the efficient development of new therapeutics.<h4>Methods</h4>Our discovery was based on insights from a severe phenotype of an individual with HCM and a second genetic alteration in a sarcomeric mechanosensing protein. We derived cardiomyocytes from patient-specific induced pluripotent stem cells and developed robust eng","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2025-04-18T15:01:48.382Z","creation":"2025-04-07T01:29:27.396Z"},"accession":"S-EPMC9109819","cross_references":{"pubmed":["35384713"],"doi":["10.1161/CIRCULATIONAHA.121.056265","10.1161/circulationaha.121.056265"]}}