Results 61 to 70 of about 282,907 (338)

Activating the Osteoblastic USP26 Pathway Alleviates Multi‐Organ Fibrosis by Decreasing Insulin Resistance

Advanced Science, EarlyView.
The loss of Ubiquitin Specific Peptidase 26 (USP26) in osteoblasts results in decreased bone formation, as well as multi‐organ fibrosis associated with insulin resistance (IR). Mechanistically, the absence of USP26 reduces glycolysis and lactate accumulation, leading to decreased histone H3 lysine 18 lactylation (H3K18LA) in the promoter region of KH ...
Jiyuan Tang, Wenkai Ye, Liang He, Zhou Dan, Leilei Chang, Zijie You, Yuanyue Jiang, Guoqing Tang, Lianfu Deng, Changwei Li   +9 more
wiley   +1 more source

Differences in microRNA-29 and Pro-fibrotic Gene Expression in Mouse and Human Hypertrophic Cardiomyopathy

Frontiers in Cardiovascular Medicine, 2019
Background: Hypertrophic cardiomyopathy (HCM) is characterized by myocyte hypertrophy and fibrosis. Studies in two mouse models (R92W-TnT/R403Q-MyHC) at early HCM stage revealed upregulation of endothelin (ET1) signaling in both mutants, but TGFβ ...
Yamin Liu, Yamin Liu, Junaid Afzal, Junaid Afzal, Styliani Vakrou, Gabriela V. Greenland, Gabriela V. Greenland, C. Conover Talbot, Virginia B. Hebl, Yufan Guan, Rehan Karmali, Jil C. Tardiff, Leslie A. Leinwand, Jeffrey E. Olgin, Samarjit Das, Ryuya Fukunaga, M. Roselle Abraham, M. Roselle Abraham   +17 more
doaj   +1 more source

Nap1L4a Cooperates with Scl/Klf1 to Recruit H2A.Z in Mediating Interactions Among Cis‐Regulatory Elements and Transcription Required for Primitive Erythropoiesis in Zebrafish

Advanced Science, EarlyView.
Nap1l4a is required in erythropoiesis and hypoxia responses via physical interaction with Klf1 and Scl to recruit the histone variant H2A.Z. This facilitates its associated cis‐regulatory element (CRE) remodeling and the consequent chromatin assembly, and activates the transcription of erythroid lineage‐specific genes.
JiaHao Shi, FuMing Lai, Zheng Shen, XiaoYan Zhang, HanFei Wang, WenYe Liu, YunLong Wang, KuanYu Li, GuoLiang Li, YaPing Fang, Jing‐Xia Liu   +10 more
wiley   +1 more source

Systematic Benchmarking of a Noise‐Tolerant Conductive Hydrogel Electrode for Epidermal Bioelectronics

Advanced Science, EarlyView.
General schematic of the approach. Abstract Conventional Silver/Silver Chloride (Ag/AgCl) electrodes remain the clinical standard for electrophysiological monitoring but are hindered by poor skin conformity, mechanical rigidity, and signal degradation, particularly under motion or sweat.
Nazmi Alsaafeen, Ioannis Ziogas, Shirina Alsaedi, Mouza Alshehhi, Shahd Almheiri, Adil Rehman, Khulood Al Shehhi, Hani Saleh, Ahsan Khandoker, Charalampos Pitsalidis, Antoun Khawaja, Anna‐Maria Pappa   +11 more
wiley   +1 more source

Self- and Goal-Directed Valsalva Maneuver vs Exercise in Eliciting Left Ventricular Outflow Tract Obstruction

JACC: Advances
Background: In symptomatic patients with hypertrophic cardiomyopathy (HCM), eliciting left ventricular outflow tract obstruction (LVOTO) is critical. A self-directed Valsalva (SDV) and exercise (EX) are frequent tools used to unmask obstruction in HCM ...
Aakash Bavishi, MD, MSCI, John Fritzlen, MD, Kutaiba Nazif, DO, Marybeth Soutar, MS, Margaret Kurnides, RDCS, Heather Speer, RDCS, Glenda Oyarce, RCS, Karen Richards, RN, Cara Flahive, RN, Matthew W. Martinez, MD   +9 more
doaj   +1 more source

F‐Box and Leucine‐Rich Repeat Protein 4 (FBXL4) Maintains Sarcomere Integrity and Cardiac Function by Enhancing K48‐Linked Ubiquitinated Degradation of Profilin‐1 (PFN1)

Advanced Science, EarlyView.
Schematic diagram depicting the proposed signaling mechanisms underlying the effects of FBXL4 in the setting of cardiac hypertrophy. Under hypertrophic stimulation, cardiomyocytes‐specific overexpression FBXL4 maintains sarcomere integrity and cardiac function by enhancing K48‐linked ubiquitinated degradation of PFN1 at the K70 site.
Xingda Li, Xueqi He, Xinyuan Hao, Yu Zhang, Xin Zhao, Shuang Wang, Zhenru Wang, Haonan Du, Hongda Li, Lian Yi, Zhimin Du, Weijie Du   +11 more
wiley   +1 more source

Real‐World Observations in Patients With Obstructive Hypertrophic Cardiomyopathy Treated With Mavacamten: Evidence of Favorable Disease Modification

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Mavacamten is commercially approved for use in symptomatic patients with obstructive hypertrophic cardiomyopathy. This study evaluated its real‐world impact on symptoms, echocardiographic changes, and the need for septal reduction therapy in ...
Milind Y. Desai, Andrew Gaballa, Yuichiro Okushi, Mohammed Abusafia, Shada Jadam, Katy Rutkowski, Susan Ospina, Sanaa Sultana, Maran Thamilarasan, Craig Asher, Zoran B. Popovic, Bo Xu   +11 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

Circulation Genomic and Precision Medicine, 2019
Background: Genetic testing for families with hypertrophic cardiomyopathy (HCM) provides a significant opportunity to improve care. Recent trends to increase gene panel sizes often mean variants in genes with questionable association are reported to ...
J. Ingles, J. Goldstein, C. Thaxton, C. Caleshu, Edward W. Corty, Stephanie B. Crowley, Kristen Dougherty, S. Harrison, Jennifer L McGlaughon, Laura V. Milko, A. Morales, Bryce A. Seifert, Natasha T. Strande, K. Thomson, J. Peter van Tintelen, Kathleen E. Wallace, R. Walsh, Q. Wells, N. Whiffin, L. Witkowski, C. Semsarian, J. Ware, R. Hershberger, B. Funke   +23 more
semanticscholar   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source