Results 201 to 210 of about 248,618 (295)

Myelodysplastic Syndromes: 2026 Update on Diagnosis, Risk‐Stratification and Management

American Journal of Hematology, EarlyView.
ABSTRACT Disease Overview The myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML). MDS occurs more frequently in older males and in individuals with prior exposure to cytotoxic therapy.
Guillermo Garcia‐Manero
wiley   +1 more source

Epitranscriptomic profiling of m5C RNA methylation reveals a dynamic response to TSWV infection in tomato. [PDF]

Front Plant Sci
Zhao X, Gong Y, Jiao Y, Zhang W, An D, Wang Y, Lv B, Li Y, Shen L, Yang J.   +9 more
europepmc   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Research progress on m6A RNA methylation modification in human reproduction related diseases. [PDF]

Eur J Med Res
Sui X, Liu Y, Wang Z, Sui Y, Gao L.
europepmc   +1 more source

Increasing TET Expression and 5‐Hydroxymethylcytosine Formation by a Carbocyclic 5‐Aza‐2′‐deoxy‐cytidine Antimetabolite

Angewandte Chemie, EarlyView.
The carbocyclic Decitabine analog (cAzadC) incorporates as an antimetabolite weakly into the genome of growing tumor cells, where it triggers a genome‐wide demethylation and a surprisingly strong hydroxymethylation of cytosine, which translates into an efficient in vivo antitumor (AML) effect.
Maike Däther, Elsa Peev, Annika Fröhlich, Binje Vick, Sogol Fatourechi, Gilles Gasparoni, Matthias Heiss, Corinna C. Pleintinger, Emmanuel Asu Bisong, Hans Hurmiz, Davide Guglielminotti, Yasmin V. Gärtner, Tina Aumer, Karsten Spiekermann, Jörn Walter, Irmela Jeremias, Franziska R. Traube, Thomas Carell   +17 more
wiley   +2 more sources

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

NSUN4-mediated m5C RNA methylation protects retinal cells against excitotoxic injury via the SHH signaling pathway. [PDF]

PLoS One
Li Y, Li D, Geng C, Wei R, Duan Y.
europepmc   +1 more source

Proteome‐Wide Target Identification Using Reactive Metallo‐Scaffolds (r‐mS): A Platform for Metallodrug Discovery

Angewandte Chemie, EarlyView.
Re‐envisioning the Ligandable Proteome: Reactive Metallo‐Scaffolds (r‐mS) combine non‐covalent protein engagement by a metallo‐scaffold with covalent cysteine capture through a tethered chloroacetamide warhead. Chemoproteomic profiling reveals unique enzyme engagement including ligases, kinases and methyltransferases, highlighting opportunities for ...
Jessica E. Waters, Harry Wilders, George S. Biggs, Mika Kintzel, Emma E. Cawood, Jonathan Bailey, Sarah Maslen, Yew Mun Yip, Mason Wakley, Ioannis G. Riziotis, Thomas W. Rees, Joanna Redmond, J. Mark Skehel, David House, Jacob Bush, Jeannine Hess   +15 more
wiley   +2 more sources

Molecular mechanism of ischemic postconditioning in promoting diabetic ischemic brain injury repair via the microRNA‐34a–BDNF–SIX3 signaling axis

Animal Models and Experimental Medicine, EarlyView.
Diabetes combined with ischemic stroke (DMIS) exacerbates brain infarct size and neuronal damage compared to nondiabetic ischemic stroke (IS). This study reveals that microRNA‐34a (miR‐34a) plays a key role in DMIS pathogenesis: miR‐34a directly targets and suppresses brain‐derived neurotrophic factor (BDNF) and Sine oculis homeobox 3 (SIX3), promoting
Ling Zhao, Chunlan Zou, Junxian Li, Yang Yang, Yuanyuan Han, Tingyu Ke   +5 more
wiley   +1 more source

Regulation of viral hepatitis by N6-methyladenosine RNA methylation. [PDF]

Emerg Microbes Infect
Moon JS, Siddiqui A, Kim GW.
europepmc   +1 more source