Results 211 to 220 of about 436,080 (311)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Intra-articular injections of liposomal adenosine improve clinical outcomes and slow radiologic progression in a preclinical canine model of osteoarthritis. [PDF]

Osteoarthr Cartil Open
Cronstein BN, Li D, Bozynski CC, Kuroki K, Cook CR, Stoker AM, Cook JL, Angle SR.   +7 more
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Purinergic Signaling, HIF, and ROS Interactions in Myocardial I/R Injury: Therapeutic Potential and Future Prospective. [PDF]

Cells
Singh MK, Yun HR, Ranbhise J, Han S, Seo H, Yeo SG, Quan FS, Kim SS, Kang I.   +8 more
europepmc   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source

A Portable Colorimetric Device for Rapid Bacterial Detection with Cleavable Functional Nucleic Acid Probes for A Common Bacterial Endoribonuclease

Angewandte Chemie, EarlyView.
A simple, rapid, and portable gold‐coated filter tip‐based assay (GFTA) is developed for bacterial detection. The GFTA leverages cleavable functional nucleic acid probes as molecular recognition elements to target RNase H2, a highly conserved bacterial endoribonuclease, enabling sensitive and specific colorimetric detection of bacterial pathogens ...
Jiuxing Li, Rudi Liu, Wenqing Zhang, Bruno J. Salena, Yingfu Li   +4 more
wiley   +2 more sources

Decoding the adenosinergic paradox of chronic sleep restriction. [PDF]

Sleep
Rao H, Mao T.
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Unlocking a Nitrosuccinate Lyase for Decarboxylative Enzymatic Hydronitration

Angewandte Chemie, EarlyView.
The nitrosuccinate lyase CreD catalyzes C–NO2 bond formation using nitrite in water and shows synthetic practicality with high turnover numbers up to 102,000. A combination of protein engineering and computational methods helped to reveal the mechanistic principles that underpin this unique enzymatic activity.
Matteo Aleotti, Hannah Dreisbach, Rémi Corlay, Clara Weber, Tamara Reiter, Wael Elaily, Bastian Daniel, Klaus Zangger, Pedro A. Sánchez‐Murcia, Mélanie Hall   +9 more
wiley   +2 more sources

Adenosine-induced Flow Arrest to Facilitate Control of a Basilar Artery Injury during Craniotomy for Petroclival Meningioma: A Case Report. [PDF]

Acta Med Philipp
Monteblanco CD, Sy Su KMC, Jose GRB.
europepmc   +1 more source