Results 281 to 290 of about 1,922,511 (410)

The Y42H mutation in medium‐chain acyl‐CoA dehydrogenase, which is prevalent in babies identified by MS/MS‐based newborn screening, is temperature sensitive [PDF]

, 2004
Linda P. O’Reilly, Peter Bross, Thomas J. Corydon, S. E. Olpin, Jakob Hansen, John M. Kenney, Shawn E. McCandless, Dianne M. Frazier, Vibeke Winter, Niels Gregersen, Paul C. Engel, Brage Storstein Andresen   +11 more
openalex   +1 more source

Astrocytic ET‐1 System Determines Microglia Phenotype Following Spinal Cord Injury

Advanced Science, EarlyView.
The study reveals that astrocytic ET‐1 system is solely activated by thrombin following SCI via RhoA/NF‐κB and MAPKs/NF‐κB signal pathway. The release of astrocytic ET‐1 drives microglia polarization toward M1 phenotype through YAP signaling via ETA and ETB receptors.
Bingqiang He, Si Xu, Mengdi Li, Hui Li, Shaolan Li, Li Niu, Honghua Song, Rixin Cai, Yue Zhou, Zhilong Cao, Yingjie Wang, Yongjun Wang   +11 more
wiley   +1 more source

P619: Three years of newborn screening for MPS1 in Ontario: Challenges of screening for the severe end of a disease continuum

Genetics in Medicine Open
Melanie Lacaria, Matthew Henderson, Ed Yeh, Sara Fernandez, Kelsey Kalbfleisch, Kristin Kernohan, Pranesh Chakraborty   +6 more
doaj  

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program. [PDF]

Int J Neonatal Screen
Malvagia S, Bettiol A, Porcaro M, Mura M, Funghini S, Ombrone D, Forni G, Scolamiero E, Coppi F, Damiano R, Cereda C, Simonetti S, Lonetti A, Daniotti M, Caciotti A, Morrone A, Calbi V, Fumagalli F, Aiuti A, Procopio E, Guerrini R, la Marca G.   +21 more
europepmc   +1 more source

Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency::a systematic review [PDF]

, 2019
Clarke, Aileen, Connock, Martin, Fraser, Hannah, Geppert, Julia, Johnson, Rebecca, Johnson, Samantha, Stinton, Christopher, Taylor-Phillips, Sian   +7 more
core   +2 more sources

ALKBH5‐Mediated M6A Demethylation of G3BP1 Attenuates Ferroptosis Via Cytoplasmic Retention of YBX1/p53 in Diabetic Myocardial Ischemia‐Reperfusion Injury

Advanced Science, EarlyView.
ALKBH5 promoted G3BP1 expression via m⁶A methylation at sites 142/173. G3BP1 interacts with YBX1 and p53, reducing their nuclear translocation and decreasing p53‐mediated SLC7A11 repression. This inhibites cardiomyocyte ferroptosis and mitigates myocardial damage during diabetic ischemia‐reperfusion injury.
Wenyuan Li, Wei Li, Yan Leng, Heng Xu, Zhongyuan Xia, Yao Wang   +5 more
wiley   +1 more source

P506: Long-term results and challenges of newborn screening for classic homocystinuria in New York State

Genetics in Medicine Open
Jing Xiao, Sarah Bradley, Christopher Johnson, Carlos Saavedra-Matiz, Tara Whispell, Joseph Orsini, Michele Caggana   +6 more
doaj  

Newborn screening for primary congenital hypothyroidism: past, present and future. [PDF]

Eur Thyroid J
Grob F, Lain S, Olivieri A.
europepmc   +1 more source

LncRNA Foxo6os as a Novel “ Scaffold” Mediates MYBPC3 in Combating Pathological Cardiac Hypertrophy and Heart Failure

Advanced Science, EarlyView.
Schematic overview showing that forkhead box O6, opposite strand (Foxo6os) acts as a “scaffold”, directly binding myosin‐binding protein‐C (MYBPC3) and recruiting protein kinase C (PKC‐α) to mediate site‐specific phosphorylation of MYBPC3. This post‐translational modification supports cardiac contraction by regulating L‐type Ca2+ channels, especially ...
Jie Sheng, Qin Lin, Yizhuo Sun, Yilei Meng, Sangyu Hu, Huaming Cao, Fang Lin, Yuping Zhu, Luying Peng, Li Li   +9 more
wiley   +1 more source

Systematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening. [PDF]

Diagnostics (Basel)
Lee CL, Chang SW, Fang HH, Chuang CK, Chiu HC, Chang YH, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +10 more
europepmc   +1 more source