Results 91 to 100 of about 118,017 (284)

Red Blood Cell Adenylate Energetics Is Related to Endothelial and Microvascular Function in Long COVID

Biomedicines
Adenine nucleotides play a critical role in maintaining essential functions of red blood cells (RBCs), including energy metabolism, redox status, shape fluctuations and RBC-dependent endothelial and microvascular functions.
Marzena Romanowska-Kocejko, Agata Jędrzejewska, Alicja Braczko, Klaudia Stawarska, Oliwia Król, Marika Frańczak, Gabriela Harasim, Ryszard T. Smoleński, Marcin Hellmann, Barbara Kutryb-Zając   +9 more
doaj   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

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

Dual control of vascular tone and remodelling by ATP released from nerves and endothelial cells [PDF]

, 2008
Purinergic signalling is important both in short-term control of vascular tone and in longer-term control of cell proliferation, migration and death involved in vascular remodelling.
Burnstock, G
core  

p-Adic Modelling of the Genome and the Genetic Code

, 2007
The present paper is devoted to foundations of p-adic modelling in genomics. Considering nucleotides, codons, DNA and RNA sequences, amino acids, and proteins as information systems, we have formulated the corresponding p-adic formalisms for their ...
Dragovich, Alexandra, Dragovich, Branko
core   +1 more source

Ribozymes for RNA‐Catalyzed RNA Methylation and Labeling

Angewandte Chemie International Edition, EarlyView.
Ribozymes are powerful tools for site‐specific RNA modification. Their activities range from installing tags and fluorophores to generating natural RNA methylations, making them valuable tools to uncover the many functions that RNA plays in nature.
Carolin P. M. Scheitl, Claudia Höbartner   +1 more
wiley   +1 more source

Moderate exercise training promotes adaptations in coronary blood flow and adenosine production in normotensive rats

Clinics, 2011
OBJECTIVES: Aerobic exercise training prevents cardiovascular risks. Regular exercise promotes functional and structural adaptations that are associated with several cardiovascular benefits. The aim of this study is to investigate the effects of swimming
Fernanda R. Roque, Ursula Paula Renó Soci, Katia De Angelis, Marcele A. Coelho, Cristina R. Furstenau, Dalton V. Vassallo, Maria Claudia Irigoyen, Edilamar M. Oliveira   +7 more
doaj   +1 more source

P2 purinoceptors signaling in fibroblasts of rat subcutaneous tissue [PDF]

, 2011
Mestrado em Biologia Molecular e CelularO tecido conjuntivo parece estar envolvido na génese de diversas condições patológicas. O aumento da rigidez do tecido conjuntivo, resultante da fibrose, pode constituir um factor importante no mecanismo patogénico
Reis, Carla Patrícia da Silva e Sousa
core   +1 more source

Adenine Nucleotide Translocation of Mitochondria. Kinetics of the Adenine Nucleotide Exchange [PDF]

European Journal of Biochemistry, 1969
E, Pfaff, H W, Heldt, M, Klingenberg
openaire   +2 more sources

Genetic Code and Number Theory [PDF]

, 2009
Living organisms are the most complex, interesting and significant objects regarding all substructures of the universe. Life science is regarded as a science of the 21st century and one can expect great new discoveries in the near futures.
Dragovich, Branko
core