Results 51 to 60 of about 1,137 (152)

Amino Acid Metabolism in Health and Disease

MedComm, Volume 7, Issue 9, September 2026.
This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su, Jinyu Liu, Xiaoliang Deng, Yanqun Luo, Haiping Xue, Lei Wang, Lianjun Xing, Tao Wu   +7 more
wiley   +1 more source

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

International Journal of Neonatal Screening, 2021
Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enzyme deficiency.
Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam   +11 more
doaj   +1 more source

Immune Dysregulation in Branched Chain Organic Acidemias

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Organic acidemias (OAs) are a group of inherited disorders, most commonly caused by defects in mitochondrial enzymes involved in amino acid and fatty acid metabolism. While they characteristically present with metabolic and neurological crises, growing evidence reveals a significant burden of chronic immune dysregulation in some disorders and ...
Abdul L. Shakerdi, Jack Drda, Justin A. Dutta, Jerry Vockley   +3 more
wiley   +1 more source

Plasmacytoid Dendritic Cells Exhibit High Transferrin Receptor Expression Without Iron Accumulation

European Journal of Immunology, Volume 56, Issue 6, June 2026.
• pDCs are defined by high surface TFRC expression and dynamic iron flux, distinguishing them from conventional dendritic cell subsets. • In the Iron proteome, pDC are enriched for mitochondrial heme and Fe–S proteins but have similar iron storage to cDC. • Iron chelation does not disrupt pDC type‐1 IFN production. ABSTRACT Plasmacytoid dendritic cells
Carrie Corkish, Simon O'Shaughnessy, Claire Lin, Sophia Wugk, Sarah Kenny, Linda Sinclair, Suzanne Cloonan, David Finlay   +7 more
wiley   +1 more source

The Intersection of m6A Methylation and Immune Response in PCOS: A Bioinformatics Perspective

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
N6‐methyladenosine RNA methylation regulators are intricately linked with the development of polycystic ovary syndrome (PCOS) and may influence immune cell infiltration in affected individuals. This study enhances our understanding of the molecular interactions in PCOS and suggests potential biomarkers for diagnosis and targets for therapeutic ...
Wenting Xu, Lingli Shi, Aifang Lu, Lijuan Cui, Haiqing Qian, Jiahui Wang, Mengyu Tang, Lili Zhu, Lihong Wang   +8 more
wiley   +1 more source

Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

Clinical Case Reports, 2018
Key Clinical Message Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required.
Wenjie Li, Xianze Meng, Weiqing Wang, Jinfeng Lv, Yingmei Sun, Yanan Lv, Caijuan Wang, Hongqin Wang, Mei Wang, Dongpo Song   +9 more
doaj   +1 more source

Molecular Classification of Patients With COVID‐19 Based on Transcriptional Profiling

Influenza and Other Respiratory Viruses, Volume 20, Issue 2, February 2026.
ABSTRACT Background COVID‐19 has caused over 7 million deaths worldwide and remains a critical public health threat. The marked heterogeneity in immune responses among patients poses challenges for targeted treatment. Molecular classification is essential for guiding precision therapies.
Hongyu Liu, Ying Zheng, Xiaoyan Deng, Mengxue Li, Di He, Wenting Zuo, Yitian Xu, Xuhui Shen, Haibo Li, Bin Cao   +9 more
wiley   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis

The Journal of Physiology, Volume 603, Issue 22, Page 6949-6977, November 15, 2025.
Abstract figure legend Intrafusal muscles contained within muscle spindles are endowed with ryanodie receptor 1 (RyR1) calcium channels and participate in proprioceptor function. Mutations in RyR1 linked to severe RYR1‐congenital myopathies affect calcium release from both extrafusal as well as intrafusal muscles.
Alexis Ruiz, Sofia Benucci, Hervé Meier, Georg Schultz, Katarzyna Buczak, Christoph Handschin, Rodrigo C. G. Pena, Susan Treves, Francesco Zorzato   +8 more
wiley   +1 more source

Genetic parameters, genome‐wide associations and potential candidate genes for additive and dominance effects of tail traits in Merinoland sheep based on whole‐genome sequence data in a selection experiment

Animal Genetics, Volume 56, Issue 5, October 2025.
Abstract The aim of this study was an in‐depth genomic analysis for tail length (TL), tail characteristics and body measurements in the Merinoland sheep breed considering whole‐genome sequence data. Genomic analyses included the estimation of genetic parameters and dominance effects, genome‐wide associations for the additive and dominance component ...
Johanna Mainzer, Tong Yin, Isabella Giambra, Hannah Hümmelchen, Petra Engel, Henrik Wagner, Axel Wehrend, Sven König   +7 more
wiley   +1 more source