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Showing 1-20 of 137 results
  1. TMEM151A variants associated with paroxysmal kinesigenic dyskinesia

    TMEM151A , located at 11q13.2 and encoding transmembrane protein 151A, was recently reported as causative for autosomal dominant paroxysmal...

    Hua lin Huang, Qing xia Zhang, ... Ding Liu in Human Genetics
    Article 01 March 2023
  2. Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease

    Adult kidney organoids have been described as strictly tubular epithelia and termed tubuloids. While the cellular origin of tubuloids has remained...

    Yaoxian Xu, Christoph Kuppe, ... Rafael Kramann in Nature Genetics
    Article 27 October 2022
  3. 1-Indanone retards cyst development in ADPKD mouse model by stabilizing tubulin and down-regulating anterograde transport of cilia

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. Cyst development in ADPKD involves abnormal...

    **ao-wei Li, Jian-hua Ran, ... Bao-xue Yang in Acta Pharmacologica Sinica
    Article 29 July 2022
  4. P2 purinergic receptor dysregulation in urologic disease

    P2 purinergic receptors are involved in the normal function of the kidney, bladder, and prostate via signaling that occurs in response to...

    Janielle P. Maynard, Karen S. Sfanos in Purinergic Signalling
    Article 10 June 2022
  5. An Introduction to Recent Approaches Underlying Mechanistic Insights Harboring Oncobiology

    Oncobiology is rapidly progressing, with many ongoing studies aimed at comprehending the intricate mechanisms underpinning cancer initiation,...
    Living reference work entry 2024
  6. An Introduction to Recent Approaches Underlying Mechanistic Insights Harboring Oncobiology

    The field of oncobiology is witnessing rapid progress, with numerous ongoing studies dedicated to comprehending the intricate mechanisms underlying...
    Reference work entry 2024
  7. Orexins

    Living reference work entry 2021
  8. Transplant and Kidney Repair

    Kidney injury including acute and chronic types will end in transient or permanent renal failure. Even patients with an episode of acute kidney...
    Fateme Guitynavard, Seyed Mohammad Kazem Aghamir, Diana Taheri in Stem Cells in Urology
    Chapter 2020
  9. The role of the metabolite cargo of extracellular vesicles in tumor progression

    Metabolomic reprogramming in tumor and stroma cells is a hallmark of cancer but understanding its effects on the metabolite composition and function...

    Mária Harmati, Mátyás Bukva, ... Edina Gyukity-Sebestyén in Cancer and Metastasis Reviews
    Article Open access 27 December 2021
  10. A live cell NanoBRET binding assay allows the study of ligand-binding kinetics to the adenosine A3 receptor

    There is a growing interest in understanding the binding kinetics of compounds that bind to G protein-coupled receptors prior to progressing a lead...

    Monica Bouzo-Lorenzo, Leigh A. Stoddart, ... Stephen J. Hill in Purinergic Signalling
    Article Open access 27 March 2019
  11. Drugging the Phosphoinositide 3-Kinase (PI3K) and Phosphatidylinositol 4-Kinase (PI4K) Family of Enzymes for Treatment of Cancer, Immune Disorders, and Viral/Parasitic Infections

    The lipid kinases that generate the lipid signalling phosphoinositides have been established as fundamental signalling enzymes that control numerous...
    Jacob A. McPhail, John E. Burke in Druggable Lipid Signaling Pathways
    Chapter 2020
  12. Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family

    Background

    Mutations in PRRT2 cause autosomal dominant paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC).

    Case presentation ...
    Axel Weber, Jonas Kreth, Ulrich Müller in BMC Medical Genetics
    Article Open access 03 March 2016
  13. Profiling of a suramin-derived compound library at recombinant human P2Y receptors identifies NF272 as a competitive but non-selective P2Y2 receptor antagonist

    Extracellular nucleotides mediate multiple physiological effects such as proliferation, differentiation, or induction of apoptosis through G...

    Nicole Brockmann, Parichat Sureechatchaiyan, ... Matthias U. Kassack in Purinergic Signalling
    Article 03 July 2019
  14. Diacylglycerol Kinase Malfunction in Human Disease and the Search for Specific Inhibitors

    The diacylglycerol kinases (DGKs) are master regulator kinases that control the switch from diacylglycerol (DAG) to phosphatidic acid (PA), two...
    Isabel Merida, Javier Arranz-Nicolás, ... Antonia Ávila-Flores in Lipid Signaling in Human Diseases
    Chapter 2019
  15. GPNMB methylation: a new marker of potentially carcinogenic colon lesions

    Background

    Epigenetic plays an important role in colorectal neoplasia process. There is a need to determine sound biomarkers of colorectal cancer...

    Hassan Ashktorab, Hamed Rahi, ... Hassan Brim in BMC Cancer
    Article Open access 06 November 2018
  16. Deciphering T Cell Immunometabolism with Activity-Based Protein Profiling

    As a major sentinel of adaptive immunity, T cells seek and destroy diseased cells using antigen recognition to achieve molecular specificity....
    Adam L. Borne, Tao Huang, ... Ku-Lung Hsu in Activity-Based Protein Profiling
    Chapter 2018
  17. Bone Morphogenetic Protein-7 and Its Role in Acute Kidney Injury and Chronic Kidney Failure

    Bone morphogenetic protein (BMP)-7 is required for embryonic kidney development, plays a functional role in the adult kidney as renal hormone for...
    Kuber T. Sampath, Lovorka Grgurevic, Slobodan Vukicevic in Bone Morphogenetic Proteins: Systems Biology Regulators
    Chapter 2017
  18. Catechol-O-Methyltransferase (COMT): An Update on Its Role in Cancer, Neurological and Cardiovascular Diseases

    Catechol-O-methyltransferase (COMT) is an enzyme that catalyses the methylation of catechol substrates, classically in catecholamine metabolism, but...
    Pedro Bastos, Tiago Gomes, Laura Ribeiro in Reviews of Physiology, Biochemistry and Pharmacology, Vol. 173
    Chapter 2017
  19. Using WormBase: A Genome Biology Resource for Caenorhabditis elegans and Related Nematodes

    WormBase ( www.wormbase.org ) provides the nematode research community with a centralized database for...
    Christian Grove, Scott Cain, ... Gary Williams in Eukaryotic Genomic Databases
    Protocol 2018
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