Results 221 to 230 of about 129,911 (267)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

Cell therapy comparison of dental pulp stem cells, hepatocytes, and their exosomes for liver fibrosis treatment in rats

Animal Models and Experimental Medicine, EarlyView.
DPSCs, hepatocytes, and exosomes were tested for liver fibrosis therapy. Exosome‐based treatment exhibited superior antioxidative and regenerative effects. Liver enzymes, oxidative stress, and profibrotic markers were significantly reduced. α‐SMA, desmin, and related gene expression were downregulated.
Sahar Rahimi, Seyedeh Mahdieh Khoshnazar, Ali Derakhshani, Nader Shahrokhi   +3 more
wiley   +1 more source

Anti‐inflammatory and osteogenic effects of transcutaneous electrical nerve stimulation in knee osteoarthritis rats via the regulation of the intestinal microbiota

Animal Models and Experimental Medicine, EarlyView.
Transcutaneous electrical nerve stimulation (TENS) improved knee osteoarthritis (KOA) in rats by regulating interleukin‐1β (IL‐1β), IL‐6, and IL‐8 expressions and the bone morphogenetic protein 2 (BMP‐2)/transforming growth factor β (TGF‐β) signaling pathway.
Yan Sun, Tong Ma, Ran Chen, Lan Shen, Xun Tang, Zhiqiang Shen, Hongbin Zhao   +6 more
wiley   +1 more source

UHPLC–MS based metabolomics study of the ErZhi formula on skeletal muscle against osteosarcopenia focusing on energy metabolism

Animal Models and Experimental Medicine, EarlyView.
ErZhi formula (EZF) is composed of Ligustri Lucidi Fructus (LLF) and Ecliptae herba (EH). Ovariectomized (OVX) and sham rats received 12‐week intragastric treatment with EZF, alendronate, and vehicle saline. Gastrocnemius tissues were harvested to systematically evaluate pharmacodynamic changes in skeletal muscle morphology, mitochondrial ...
Yuqing Pang, Ningning Li, Yujie Ding, Shuzhen Hou, Jing Liu, Xiuxue Liu, Erwei Liu, Xiaopeng Chen   +7 more
wiley   +1 more source

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

Advanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source

Comparison of Receptor‐Mediated Endocytosis and Its Application to Enhance DNA Transfection by TFAMoplex

Advanced NanoBiomed Research, EarlyView.
We developed an assay to distinguish cellular binding from internalization. Compatible with microscopy and high‐throughput screening, the method identifies ligand‐mediated uptake. Applying top candidates to a protein‐based DNA carrier enhanced transfection efficiency, providing a rational strategy to improve non‐viral gene delivery systems.
David Scherer, Steffen Honrath, Jonas Kurmann, Alexander Klipp, Finn Brigger, Jean‐Christophe Leroux   +5 more
wiley   +1 more source

Biochemical and structural diversity in Carbohydrate Esterase Family 15

, 2017
Poulsen, Jens-Christian N, Larsbrink, Johan,, Watanabe, Takashi, Lo Leggio, Leila, Arnling Bååth, Jenny,, Sörensen Ristinmaa, Amanda,, Olsson, Lisbeth,, Mazurkewich, Scott,, Nakamura, Hiroshi   +8 more
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