Results 171 to 180 of about 102,344 (304)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

SERTAD1 initiates NLRP3-mediated inflammasome activation through restricting NLRP3 polyubiquitination

Summary: We here demonstrate that SERTAD1 is an adaptor protein responsible for the regulation of lysine 63 (K63)-linked NLRP3 polyubiquitination by the Cullin1 E3 ubiquitin ligase upon inflammasome activation. SERTAD1 specifically binds to NLRP3 but not
Jin Seok Park, Yerin Lee, Hye Young Kim, Seong Shil Park, Jihoon Ha, Minbeom Kim, Su Myung Jung, Jin-Cheol Shin, Dongyeob Seo, Seiya Mizuno, Seok Hee Park, Seong-Jin Kim, Jae Young Lee, Jiyeon You, Satoru Takahashi   +14 more
core   +1 more source

The diagnostic value of the circadian rhythm gene KLF10 in anxiety‐depressive disorders and its neuroimmune regulatory mechanisms

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract illustrates the protective role and molecular mechanism of the circadian rhythm‐related gene KLF10, identified as a diagnostic biomarker and therapeutic target in anxiety‐depressive disorder. Model establishment and phenotypes: An anxiety‐depression model was successfully established by chronic restraint stress combined with ...
Anlan Liu, Weifeng Guo, Jianxiang Li, Tiange Zhang, Dan Xu   +4 more
wiley   +1 more source

Rewriting Tumor Immunity With Bacterial Membrane Vesicles: A Versatile and Potent Therapeutic Strategy

Advanced NanoBiomed Research, EarlyView.
Bacterial membrane vesicles (BMVs) emerge as promising platforms for cancer immunotherapy owing to their intrinsic adjuvant properties and tunable cargo delivery capabilities. Their ability to modulate the tumor microenvironment, enhance antitumor immune responses, and support personalized therapeutic strategies highlights their growing potential as ...
Md Sifat Rahi, Md Mijanur Rahman, Asma Talukder, Urooj Yousaf Virk, Jennifer C. Wilson, Nigel McMillan, Ming Q. Wei   +6 more
wiley   +1 more source

NLRP3 Inflammasome Deficiency Alleviates Inflammation and Oxidative Stress by Promoting PINK1/Parkin-Mediated Mitophagy in Allergic Rhinitis Mice and Nasal Epithelial Cells [PDF]

Hong Ding,1 Xiaofan Lu,2 Huimin Wang,3 Wenming Chen,3 Bing Niu4 1Otolaryngology Department, The Second Clinical Medical College, Henan University of Chinese Medicine, Zhengzhou, Henan Province, People’s Republic of China; 2Respiratory Department, The ...
Niu B, Ding H, Lu X, Chen W, Wang H
core  

The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding

Animal Research and One Health, EarlyView.
A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang, Weiran Wu, Qingqing Cai, Jiaxing Wang, Qi Gao, Muhammad Iftikhar, Yulin Bi, Hao Bai, Lihong Gu, Guobin Chang, Shihao Chen   +10 more
wiley   +1 more source

Gut Health in Ostriches (Struthio camelus): Insights Into Intestinal Structure, Functions, Microbiome, and Improvement Strategies

Animal Research and One Health, EarlyView.
Our paper systematically reviews the intestinal structure, function, and microbiota of ostriches, along with strategies for improving their gut health. We analyze how these factors collectively influence intestinal homeostasis and ostrich welfare, emphasizing probiotics as a promising intervention to enhance gut health, boost population well‐being, and
Zi‐Qun Zhang, Fang‐Fang Guo, Wen‐Juan Du, Meng Li, Aftab Shaukat, Zhu‐Qing Jia, Shu‐Cheng Huang   +6 more
wiley   +1 more source

Efficacy and Safety of Nanoencapsulated Sirolimus Plus Pegadricase: Results From the Randomized, Placebo‐Controlled Phase 3 Trials

Arthritis &Rheumatology, EarlyView.
Objective DISSOLVE I and II examined the efficacy and safety of nanoencapsulated sirolimus (NAS) plus pegadricase (NASP) in patients with uncontrolled gout (UG). Methods In these double‐blind, placebo‐controlled Phase 3 trials of NASP, patients were randomized 1:1:1 to infusions of high‐dose (HD) or low‐dose (LD) NAS plus pegadricase (HD NASP, LD NASP,
Herbert S. B. Baraf, Puja P. Khanna, Milan Petronijevic, Mamuka Lortkipanidze, Anand Patel, Kwabena Ayesu, Michael H. Pillinger, Atul Singhal, Joanna Sobierska, Jacquie Christie, Peter Traber, Rehan Azeem, Wesley DeHaan, Hugues Santin‐Janin, Bhavisha Desai, Alan Kivitz   +15 more
wiley   +1 more source

The Role of Skeletal Muscle Mitochondria in NLRP3 Inflammasome Signaling. [PDF]

Biomolecules
Sangha J, Hood DA.
europepmc   +1 more source