Results 101 to 110 of about 233,323 (358)

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

Kidney International, 2019
Distal renal tubular acidosis is a rare renal tubular disorder characterized by hyperchloremic metabolic acidosis and impaired urinary acidification. Mutations in three genes (ATP6V0A4, ATP6V1B1 and SLC4A1) constitute a monogenic causation in 58–70% of ...
Tilman Jobst-Schwan, Verena Klämbt, Maureen Tarsio, J. Heneghan, Amar J. Majmundar, S. Shril, Florian Buerger, Isabel Ottlewski, B. Shmukler, R. Topaloğlu, S. Hashmi, Farkhanda Hafeez, F. Emma, M. Greco, G. Laube, H. Fathy, M. Pohl, J. Gellermann, D. Milošević, M. Baum, S. Mane, R. Lifton, P. Kane, S. Alper, F. Hildebrandt   +24 more
semanticscholar   +1 more source

A Brain‐Penetrant Nanobody Reveals GSK3β‐Driven Proline‐Directed Phosphorylation as a Master Regulator of Ischemic Neurodegeneration

Advanced Science, EarlyView.
A brain‐targeted nanoparticle enables delivery of a therapeutic nanobody (Nb.29E9) that inhibits pathogenic GSK3β signaling. This intervention restores AMPK/mTORC1/TGFβ homeostasis, attenuates neuroinflammation and oxidative stress, and promotes long‐term functional recovery after ischemic stroke.
Lan Li, Muyang Li, Lei Sun, Ying Yang, Yuanshun Wu, Ziyi Yin, Anni Wang, Peiyang Zhou, Shaoxiang Luo, Jian Chen, Jun Qin, Zhibing Ai, Zilong Yuan, Zhiqiang Dong, Min Zhang   +14 more
wiley   +1 more source

Thiamine Therapy During Refractory Lactic Acidosis in Critically Ill Children [PDF]

Introduction: Thiamin deficiency, which is an overlooked but important cause of lactic acidosis, can lead to several clinical symptoms, including neuropathy, cardiogenic shock, and death, even though it can be easily treated in critically ill children ...
Burak Balaban, Hacer Uçmak, Hasan Özen, Tanıl Kendirli, Fevzi Kahveci, Mert Kaan Coşkun, İlker Fındık, Anar Gurbanov, Merve Havan   +8 more
core   +1 more source

Does oral sodium bicarbonate therapy improve function and quality of life in older patients with chronic kidney disease and low-grade acidosis (the BiCARB trial)? : Study protocol for a randomized controlled trial [PDF]

, 2015
Date of acceptance: 01/07/2015 © 2015 Witham et al. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and ...
McMurdo, Marion E. T., Sumukadas, Deepa, Ogston, Simon A., Band, Margaret M., Hampson, Geeta, Edmund J. Lamb, Paul McNamee, Deepa Sumukadas, McNamee, Paul, Simon A. Ogston, Lamb, Edmund J., Witham, Miles D., Alison Avenell, null null, Margaret M. Band, Soiza, Roy L., Roy L. Soiza, Geeta Hampson, Roberta C. Littleford, Avenell, Alison, Miles D. Witham, Marion E. T. McMurdo, BiCARB Study Group, Littleford, Roberta C.   +23 more
core   +1 more source

Fatal Mucormycosis Post COVID-19 Infection in Uncontrolled Diabetes with Misuse of Glucocorticoids and Antibiotics

Infection and Drug Resistance, 2022
Heba Hamed,1 Raed Madia,2 Hosniyeh Ladadweh,2 Hiba Falana,2 Abdallah Damin AbuKhalil2 1Palestine Medical Complex, Ministry of Health, Ramallah, Palestine; 2Pharmacy Department, Faculty of Pharmacy, Nursing and Health Professions, Birzeit University ...
Hamed H, Madia R, Ladadweh H, Falana H, AbuKhalil AD   +4 more
doaj  

Targeting the HSPA8‐CMA‐ATP6V1A Axis Triggers Lysosomal Hyperacidification and Catastrophic Vacuolation in Prostate Cancer

Advanced Science, EarlyView.
Our experimental evidence supports a model in which ALO targets the HSPA8‐CMA‐ATP6V1A axis to induce lysosomal hyperacidification and initiate osmotic and lipidomic stress. These changes are associated with LMP and loss of lysosomal integrity in prostate cancer cells.
Bingzheng An, Ze Gao, Shuo Chen, Liwei Meng, Chen Zhang, Kefan Song, Haochen Cui, Lei Yan, Zhiqing Fang   +8 more
wiley   +1 more source

A Pathology‐Instructed Theranostic Platform with Mechanoadaptive and ROS‐Powered Nanobreathing Functions for Precision Myocardial Repair

Advanced Science, EarlyView.
We developed a pH responsive theranostic serum albumin hydrogel named BST, functionalized with MRI and CT probes and loaded with mitochondria targeted CAT‐SOD nanogels, that rapidly self repairs and mechanically stabilizes the infarcted myocardium, releases therapeutic nanogels and albumin under hypoxia induced acidosis to clear mitochondrial ROS ...
Zheng Luo, Cui Yang, Liuzhou Mao, Panqin Ma, Chiyu Jia, Karen Yuanting Tang, Xian Jun Loh, Yun‐Long Wu   +7 more
wiley   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

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

Metabolic acidosis and fatigue: Where to from here? [PDF]

, 2011
For the last 35 years the central focus of acidosis has been on lactic acid or lactate as being the cause of acidosis and acidosis being the cause of fatigue during intense exercise. Unfortunately, causation has been implied from correlation. The organic
Kennedy, D., Robergs, Robert A.
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