Results 51 to 60 of about 127,568 (322)

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

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

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

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

Mitochondrial Adaptation to Mechanical Stress in Cardiac Ageing and Disease

Advanced Science, EarlyView.
Mechanical forces shape the heart's energy factories. This review explores how mitochondria in cardiac cells sense and respond to biomechanical stress, altering their structure, positioning, and metabolism. By linking mechanical cues to mitochondrial adaptation, the article highlights pathways driving heart disease and points to new strategies for ...
Aishwarya Prakash, Thomas Iskratsch
wiley   +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

CURE ID: A Platform to Collect Real‐World Treatment Data for Drug Repurposing in Rare Genetic Disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases collectively affect millions of Americans, but less than 5% have approved treatments, and new drug development remains limited. For such diseases, drug repurposing may be an effective strategy to find new treatment options. In the rare genetic disorder community, drugs are frequently prescribed off‐label.
Tahsin Farid, Maura R. Z. Ruzhnikov, Mili Duggal, Keyla C. Tumas, Shira Strongin, Eric Sid, Sarah R. Fuchs, Leonard Sacks, Dominique C. Pichard, Catherine Pilgrim‐Grayson, Ewy A. Mathé, Heather A. Stone   +11 more
wiley   +1 more source

Case Report: Minimally Invasive Therapy by Transcatheter Aortic Valve Replacement and Percutaneous Intramyocardial Septal Radiofrequency Ablation for a Patient With Aortic Stenosis Combined With Hypertrophic Obstructive Cardiomyopathy: Two-Year Follow-Up Results

Frontiers in Cardiovascular Medicine, 2021
With the development of minimally invasive technologies in the medical field, more and more technologies can replace surgical thoracotomy and relieve the pain of disease via minimally invasive methods. We reported a case of aortic valve stenosis combined
Yijian Li, Yuan Feng, Xi Li, Lei Zuo, Tao Gu, Liwen Liu, Mao Chen   +6 more
doaj   +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

Individualized interactomes for network-based precision medicine in hypertrophic cardiomyopathy with implications for other clinical pathophenotypes

Nature Communications, 2021
Progress in precision medicine is limited by insufficient knowledge of transcriptomic or proteomic features in involved tissues that define pathobiological differences between patients.
Bradley A. Maron, Rui-Sheng Wang, Sergei Shevtsov, Stavros G. Drakos, Elena Arons, Omar Wever-Pinzon, Gordon S. Huggins, Andriy O. Samokhin, William M. Oldham, Yasmine Aguib, Magdi H. Yacoub, Ethan J. Rowin, Barry J. Maron, Martin S. Maron, Joseph Loscalzo   +14 more
doaj   +1 more source