Results 141 to 150 of about 55,948 (258)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1879-1883, August 2026.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Identification of Prognostic Genes Relevant With the Nuclear Factors of Activated T Cells Based on Transcriptomics in Oral Squamous Cell Carcinoma

Clinical and Experimental Dental Research, Volume 12, Issue 4, August 2026.
ABSTRACT Background It has previously been demonstrated that the nuclear factor of activated T cells (NFAT) is crucial for the development of tumors. Given OSCC's drug resistance and poor outcomes, identifying NFAT‐associated prognostic genes is urgent for better treatment.
Julaiti Tuerxun, Ailimaierdan Ainiwaer, Tairan Ding   +2 more
wiley   +1 more source

Atorvastatin Reduces Alcohol‐Related Cardiac and Liver Tissue Damage, Oxidative Stress, Inflammation, Apoptosis, and Thiol‐Disulfide Imbalance in Rats

Journal of Biochemical and Molecular Toxicology, Volume 40, Issue 8, August 2026.
Atorvastatin (40 mg/kg) inhibited fibrosis, hypertrophy, apoptosis, inflammation, and oxidative stress caused by alcohol consumption. It may contribute to the regulation of mitochondrial function and thiol/disulfide balance by limiting alcohol‐related heart and liver damage.
Cumaali Demirtas, Şahhan Kılıç, Mert Babaoğlu, Süha Asal, Elif Gökçe Tenekeci, Hakan Beyaztaş, Eray Metin Guler, Salime Pelin Erguven, Kubra Sevgin   +8 more
wiley   +1 more source

Midterm Efficacy of SubcutAneous Implantable CardioVErter‐Defibrillator in ≤ 18 Year‐Old CHILDREN (SAVE CHILDREN‐II Registry)

Journal of Arrhythmia, Volume 42, Issue 4, August 2026.
S‐ICD therapy demonstrated favorable mid‐term safety and efficacy in pediatric patients, with durable sensing performance and a low incidence of device‐related infection. ABSTRACT Background The subcutaneous implantable cardioverter‐defibrillator (S‐ICD) avoids transvenous leads and is a promising option for sudden cardiac death (SCD) prevention in ...
Hitoshi Mori, Taisuke Nabeshima, Kota Nagaoka, Hideo Fukunaga, Hidemori Hayashi, Osamu Inaba, Yuhei Isonaga, So Asano, Junichi Nitta, Shigeo Watanabe, Sou Otsuki, Hiroshi Suzuki, Hidehira Fukaya, Jun Kishihara, Toshiyuki Chisaka, Takashi Higaki, Ayako Okada, Hideki Kobayashi, Takayuki Sekihara, Takafumi Oka, Seiichi Sato, Keisuke Yoshino, Hidekazu Kondo, Naohiko Takahashi, Ken Kato, Masaru Miura, Jun Maeda, Shuntaro Tamura, Kentaro Ikeda, Hiroko Goto, Takashi Murakami, Tsutomu Wada, Motoki Takamuro, Tsugutoshi Suzuki, Yuji Ishida, Shingo Sasaki, Takuro Nishimura, Masateru Takigawa, Tomomi Matsuura, Tomohiko Imamura, Satoshi Shizuta, Masato Fukunaga, Maiko Kuroda, Rintaro Hojo, Seiji Fukamizu, Hirohiko Suzuki, Yukihiko Yoshida, Itsuro Morishima, Kenji Kuraishi, Eiki Nishihara, Yoshihisa Naruse, Tomoyuki Sato, Yoshiyasu Aizawa, Kimitaka Nishizaki, Kentaro Nakamura, Norihito Nuruki, Masao Yoshinaga, Yukitoshi Ikeya, Yasuo Okumura, Shota Muraji, Yusuke Kondo, Makoto Nakano, Machiko Kito, Yasuya Inden, Satoshi Higuchi, Takahiko Kinjo, Kazuhisa Matsumoto, Masataka Narita, Wataru Sasaki, Tsukasa Naganuma, Daisuke Kawano, Naomichi Tanaka, Kei Matsumoto, Takuro Kojima, Yoshifumi Ikeda, Ritsushi Kato, Naokata Sumitomo   +76 more
wiley   +1 more source

Epicardial adipose tissue‐linked leukotriene and cytokine signalling pathways – novel targets for prevention of obesity‐ and diabetes‐linked ventricular arrhythmia

The Journal of Physiology, EarlyView.
Kelly A. Aromolaran, Ademuyiwa S. Aromolaran   +1 more
wiley   +1 more source

The Role of Inflammation and Immunity in Cardiovascular Disease: Molecular Mechanisms and Therapeutic Targets

MedComm, Volume 7, Issue 8, August 2026.
Inflammation in cardiovascular disease is a dynamic and context‐dependent network rather than a secondary response to injury. Mitochondrial danger signaling links metabolic stress to immune activation through TLR priming, NLRP3 inflammasome amplification, cGAS–STING signaling, and immunometabolic gating, providing a basis for more precise therapeutic ...
Jiaxiang Rong, Zhen Wang, Xiaoxiao Lin, Ziwen Lei, Qianqian Huang, Hang Liu, Fei Luan, Junbo Zou, Yajun Shi   +8 more
wiley   +1 more source

Deep‐Learning‐Based Image Reconstruction to Improve End‐Diastolic and Systolic Cardiac T1 Mapping

Magnetic Resonance in Medicine, Volume 96, Issue 2, Page 892-907, August 2026.
ABSTRACT Purpose To develop an image reconstruction method that enables increased spatial resolution cardiac T1 mapping in both the end‐diastolic and systolic phase, that shows high T1 agreement with the clinical standard. The resolution gain is achieved by increasing the acceleration rate of MOLLI single‐shot images to R = 4, while maintaining a ...
Daniel Amsel, Jens Wetzl, Daniel Giese, Christoph Tillmanns, Rolf Gebker, Kelvin Chow, Michaela Schmidt, Andreas Lingg, Jens Kübler, Patrick Krumm, Thomas Küstner   +10 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Apical Hypertrophic Cardiomyopathy (Yamaguchi Syndrome) Presenting as Acute Coronary Syndrome Mimic: A Case Report. [PDF]

Cureus
Shirbhate L.
europepmc   +1 more source