Results 81 to 90 of about 224 (182)

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives

Kidney International Reports
Introduction: Variants in the Ras-related GTPase D (RRAGD) gene have been associated with autosomal dominant kidney hypomagnesemia (ADKH) characterized by hypokalemia, nephrocalcinosis, and dilated cardiomyopathy (DCM).
Anastasia Adella, François Jouret, Leire Madariaga, Pieter A. Leermakers, Pedro Arango, Gema Ariceta, Bodo B. Beck, Anna Bjerre, Detlef Bockenhauer, Paula Coccia, Radhika Dhamija, Fernando de Frutos, Alejandro Garcia-Castano, Sara B. van Katwijk, Jesus Lucas, Thomas Möller, Dominik Müller, Filippo Pinto e Vairo, Melinda Raki, Jonathan Rips, Karl Peter Schlingmann, Hanka Venselaar, Matheus Vernet Machado Bressan Wilke, Tom Nijenhuis, Joost Hoenderop, Jeroen de Baaij   +25 more
doaj   +1 more source

Case Report: Evaluation of COL4A5 non-canonical splicing variants in two families

Frontiers in Medicine
IntroductionAlport syndrome is one of the most prevalent monogenic kidney diseases, resulting from the defects in COL4A3, COL4A4, and/or COL4A5 genes. Interpretation of non-canonical splicing variants can be challenging.
Chee Teck Koh, Chee Teck Koh, Tina Si Ting Lim, Tina Si Ting Lim, Alwin Hwai Liang Loh, Yan Fei Ng, Jia Liang Kwek, Perry Yew Weng Lau, Perry Yew Weng Lau, Hui-lin Chin, Hui-lin Chin, Jun Li Ng, Jun Li Ng, Mya Than, Mya Than, Irene Yanjia Mok, Cynthia Ciwei Lim, Kay Yuan Chong, Jason Chon Jun Choo, Hui Kim Yap, Hui Kim Yap, Kar Hui Ng, Kar Hui Ng, Yaochun Zhang, Yaochun Zhang   +24 more
doaj   +1 more source

Inosine‐Triphosphate‐Pyrophosphatase Activity as a Potential Predictor of Methotrexate Remission in Juvenile Idiopathic Arthritis

Arthritis &Rheumatology, EarlyView.
Objective Methotrexate (MTX) is the first‐line therapy for juvenile idiopathic arthritis (JIA), but up to 40% of patients do not respond to it. Low inosine triphosphate pyrophosphatase (ITPA) activity has been associated with reduced clinical remission. We investigated the role and underlying mechanisms of ITPA in vitro. Methods ITPA enzymatic activity
Sofia Sindici Forgiarini, Marianna Lucafò, Debora Curci, Davide Selvestrel, Valentina Moressa, Sofia Pagarin, Barbara Bellich, Martina Franzin, Alberto Tommasini, Mara L. Becker, Laura B. Ramsey, Susan D. Thompson, Carl D. Langefeld, Federica Corba, Edoardo Marrani, Gabriele Simonini, Gabriele Stocco, Giuliana Decorti, Andrea Taddio, Serena Pastore   +19 more
wiley   +1 more source

Topical Losartan Treatment of Herpes Simplex Virus- or Varicella-Zoster Virus-Induced Corneal Scarring: A Case Series

Case Reports in Ophthalmology
Introduction: Topical losartan has emerged as a promising therapeutic option for preventing and treating corneal scarring fibrosis. Its mechanism of action involves the inhibition of ERK-mediated signaling in the noncanonical TGF-beta pathways,
Barbara A.L. Dutra, Laura E. Drew-Bear, Samantha P. Herretes, Danielle Arroyo, Rodrigo Carlos de Oliveira, Lycia Pedral Sampaio, Marcony R. Santhiago, Steven E. Wilson   +7 more
doaj   +1 more source

Long Noncoding RNA H19 Mediates STAT3‐Dependent Activation of Keratinocytes and Fibroblasts in Systemic Sclerosis Skin

Arthritis &Rheumatology, EarlyView.
Objective Dermal systemic sclerosis (SSc) fibroblasts and their exosomes can activate keratinocytes in SSc, with long noncoding RNA (lncRNA) H19 highlighted as the most up‐regulated RNA in their cargo compared with healthy controls (HCs). The role of H19 in SSc pathogenesis has never been investigated.
Begoña Caballero‐Ruiz, Christopher W. Wasson, Rebecca L. Ross, Francesco Del Galdo   +3 more
wiley   +1 more source

Phosphorylation of N-glycans in the brain: The case for a non-canonical pathway?

BBA Advances
Asparagine-linked glycosylation (N-glycosylation) is a common co- and post-translational modification that refers to the addition of complex carbohydrates, called N-linked glycans (N-glycans), to asparagine residues within defined sequons of polypeptide ...
Lucija Sironić, Nikol Mraz, Gordan Lauc, Thomas S. Klarić   +3 more
doaj   +1 more source

Nekanoničko padežno kodiranje subjekata u nekim sjevernogermanskim jezicima i hrvatskom

Studia Romanica et Anglica Zagrabiensia, 2004
Non-canonical case marking of subjects (also known as dative subjects, oblique subjects, oblique subject-like NPs, preverbal oblique nominals, 'quirky case') has been a matter of considerable debate for quite some time. In most traditional grammars the dative was simply assumed to be the subject because it was the 'thing being talked about', or because
openaire   +2 more sources

A Modular Nucleoside Kinase Cascade for the Synthesis of Ribonucleoside Triphosphates

Biotechnology and Bioengineering, EarlyView.
Damm et al. report standardized enzymatic cascades for production of all canonical nucleoside triphosphates from the corresponding nucleosides, using kinase‐catalyzed phosphorylation from acetyl phosphate. Reactions afforded ∼ 100 mM product in near‐quantitative conversion.
Oliver T. Damm, Martin Pfeiffer, Johannes Zöhrer, Bernd Nidetzky   +3 more
wiley   +1 more source

Highly Potent Fluorogenic Ligands for Triplex DNA: 5‐Substituted 2‐(Naphthalen‐2‐yl)‐4H‐Chromen‐4‐Ones

Chemistry – A European Journal, EarlyView.
5‐Substituted 2‐(naphthalen‐2‐yl)‐4H‐chromen‐4‐ones are reported as a novel class of highly potent and selective triplex DNA ligands. These ligands induce triplex formation at submicromolar concentrations and inhibit enzymatic activity via ligand‐mediated triplex formation.
Nghia Tran, Landy Gu, Krege M. Christison, Kalee Thao, Liang Xue   +4 more
wiley   +1 more source

A germline JAK2 exon12 mutation and a late somatic CALR mutation in a patient with essential thrombocythemia

Frontiers in Oncology
BackgroundIt has been discovered that Janus kinase 2 (JAK2) exon12 mutations lead to the polycythemia vera (PV) phenotype, while somatic mutations of calreticulin (CALR) are associated with essential thrombocythemia (ET) or primary myelofibrosis. In this
Zhuanghui Hao, Juan Li, Feng Gao, Weixiao Ren, Xiaomei Lu, Jinyi Feng, Chen Zhang, Sicheng Bian, Juan Xie, Ming Luo, Jianmei Chang, Wanfang Yang, Ruixia Hou, Daniel Muteb Muyey, Jing Xu, Jiangxia Cui, Xiuhua Chen, Hongwei Wang   +17 more
doaj   +1 more source