Results 181 to 190 of about 217,992 (277)

Incidental maternal glutaric aciduria type I detection through newborn screening: A case report. [PDF]

Mol Genet Metab Rep
Grillet PE, Marelli C, Mondésert E, Francois-Heude MC, Roubertie A, Sabourdy F, Cristol JP, Acquaviva C, Badiou S.   +8 more
europepmc   +1 more source

TRIM40 Drives Pathological Cardiac Hypertrophy and Heart Failure via Ubiquitination of PKN2

Advanced Science, EarlyView.
This study identifies the E3 ligase TRIM40 as a key driver of pathological cardiac hypertrophy. TRIM40 binds PKN2 via its B‐box domain and, through its C29‐dependent catalytic activity, mediates K63‐linked ubiquitination of PKN2. This modification enhances PKN2 phosphorylation at Ser815, thereby driving hypertrophy.
Risheng Zhao, Xiaoli Cui, Huizhu Du, Zhuoqun Wang, Chang Liu, Linxin Zhang, Jianing Qi, Di Yang, Hui Yu, Shuang Yan, Wei Liu, Haiming Sun, Mengyang Wang   +12 more
wiley   +1 more source

EDTA‐Functionalized Nanoscale Metal–Organic Framework for Onco‐Cardiology via Radiochemotherapy Synergy and Spatiotemporally Matched Iron Chelation

Advanced Science, EarlyView.
Doxorubicin (DOX)‐induced cardiotoxicity is a major limitation to its broader clinical application, while cardioprotective interventions often risk reducing the anticancer efficacy of DOX. To address these challenges, this work constructs an EDTA‐functionalized metal–organic framework that enhances tumor therapy and provides efficient cardioprotection ...
Daojing Yuan, Liyang Tian, Luwen Zhuang, Yongyu Liang, Lingfei Chen, Xuetao Wang, Yanli Li, Xiyong Yu, Teng Gong   +8 more
wiley   +1 more source

Newborn screening for sickle cell disease in Caluquembe, southwestern Angola, 2024-2025. [PDF]

PLoS One
Su JJ, Kupua VS, Cummings D, Jacobsen KH.   +3 more
europepmc   +1 more source

The Age‐Dependent Resident Myonuclear Multi‐Omic Response to an Acute Skeletal Muscle Hypertrophic Stimulus in Mice

Advanced Science, EarlyView.
Resident myonuclei are the molecular “control centers” for large multinuclear muscle fibers. It is presumed that, with aging, these control centers become compromised and contribute to delayed or blunted muscle adaptive potential. This study is a detailed roadmap that exposes how young versus aged myonuclei respond to a hypertrophic loading stimulus ...
Pieter J. Koopmans, Ronald G. Jones III, Ana Regina Cabrera, Francielly Morena, Nicholas P. Greene, John J. McCarthy, Ahmed Ismaeel, Yuan Wen, Kevin A. Murach   +8 more
wiley   +1 more source

Rapid whole genome sequencing in newborn screening for metabolic diseases. [PDF]

Front Pediatr
Zheng J, Yang X.
europepmc   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial. [PDF]

BMJ Open
Reimers R, Bailey M, Brown C, Chan K, Defay T, Finkel T, Kahn S, Protopsaltis L, Stoddard L, Talati AJ, Wigby K, Akil ASA, Wright M, Kingsmore SF, BeginNGS Consortium.   +14 more
europepmc   +1 more source

Integrating Human Intestinal Organoids into FDA'S New Approach Methodologies for Drug Discovery

Advanced Science, EarlyView.
Illustration summarizes how human intestinal organoids (HIOs) are becoming transformative in preclinical research. Preclinical drug discovery pipelines often rely on animal models for ADMET studies, even though interspecies ADME gaps, poor external validity, and high attrition rates are common.
Debarun Patra, Ibrahim M. Sayed, Souhrid Mukherjee, Honit Piplani, Aida Habtezion, Michael J. Rosen, Jospeh C. Wu   +6 more
wiley   +1 more source

Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment. [PDF]

Front Pediatr
Tariq H, Salpietro V, Houlden H, Stevanin G.   +3 more
europepmc   +1 more source