Results 191 to 200 of about 1,407,914 (310)

Arhgef1 Deletion Disrupts Early Cortical Neurogenesis via PAK1 Overactivation and Causes Motor Dysfunction in Adulthood

Advanced Science, EarlyView.
ARHGEF1 plays a pivotal role in both embryonic cortical neurogenesis and adult motor function. During early development, it governs genesis of deep‐layer cortical neurons by negatively regulating RAC1/CDC42‐PAK1‐Cofilin signaling. In adulthood, ARHGEF1 is important for the maintenance of neuronal morphology and activity in the motor cortex, ensuring ...
Liuren Li, Xuanyue Ma, Zhenyu Ding, Bang Sun, Linglin Liu, Hei Matthew Yip, Wei Wang, Tianying Wu, Yuan Guo, Yinghui Peng, Shiqing Zhang, Jacque Pak Kan Ip, Li Zhang, Keshen Li, Lei Shi   +14 more
wiley   +1 more source

A Systematic Review of Metachromatic Leukodystrophy Newborn Screening: Transitioning from Pilot Studies to the Real World. [PDF]

Int J Neonatal Screen
Waser S, Kistler S, Adang LA, Orchard PJ, Datta AN, Sondheimer N, Köhler H, Drozdov D.   +7 more
europepmc   +1 more source

Melatonin Mitigates Doxorubicin‐Induced Cardiotoxicity by Targeting the USP18/PKM2 Axis Without Compromising Antitumor Efficacy

Advanced Science, EarlyView.
Melatonin engages MT1/MT2 receptors to suppress STAT1‐driven USP18 upregulation, thereby redirecting PKM2 ubiquitination from K33‐linked autophagic degradation toward K27‐linked nuclear translocation. This prevents PKM2‐mediated proinflammatory gene expression in the heart, alleviating doxorubicin‐induced cardiotoxicity without compromising antitumor ...
Zhenyu Feng, Yijin Yang, Jie Bai, Pengqi Sun, Xuyang Sun, Jinshu Shang, Yang Liu, Zhen Ning, Ningning Zhang, Yun‐long Xia, Yunpeng Xie   +10 more
wiley   +1 more source

A Novel Bioactive Component, Efoba, From Aged Garlic Targets CTSC to Suppress NET‐Driven Neuroinflammation and Ameliorate Secondary Brain Injury After Intracerebral Hemorrhage

Advanced Science, EarlyView.
Efoba, a novel bioactive component derived from aged garlic, confers neuroprotection against intracerebral hemorrhage. It acts on microglia to suppress CTSC release, inhibits NET‐mediated neural injury, and blocks pathological microglia‐neutrophil crosstalk. This study provides a highly promising lead compound for hemorrhagic‐stroke therapy.
Junjun Meng, Jianhua Wang, Tao Zhang, Xiaofan Fan, Jinxiu Guo, Shiyuan Zhao, Wenxue Sun, Pei Jiang   +7 more
wiley   +1 more source

The cost-benefit of newborn screening for X-linked agammaglobulinemia and related B-cell lymphopenia. [PDF]

Immunol Res
Grunebaum E, Tenembaum V, Quinn J, Modell F, Somech R.   +4 more
europepmc   +1 more source

A Bi‐Adjuvant Senolytic Nanovaccine Modulating Dendritic Cell Senescence Ameliorates Aging‐Related Metabolic Dysfunction

Advanced Science, EarlyView.
An active biomaterial‐based bi‐adjuvant nanovaccine restores the immunocompetence of aged dendritic cells to overcome senescent cell tolerance. Accompanied by the downregulation of mitotic kinases Aurka/b and attenuation of senescence‐associated PI3K/AKT phosphorylation, the nanovaccine enhances antigen‐presenting capacity and promotes potent cytotoxic
Qingxu Song, Xiaoxue Du, Wenbo Dong, Ying Wang, Xiaojing Wang, Qiliang Yin   +5 more
wiley   +1 more source

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective. [PDF]

Regen Ther
Batchuluun K, Batjargal K, Tsevgee A, Enkhtur A, Stipan N, Unurbat E, Chimeddorj B, Nyamdavaa K, Boldbaatar D, Ganbaatar E, Umezawa A.   +10 more
europepmc   +1 more source

Newborn Screening: Equity for Aboriginal and Torres Strait Islander Families in the Context of Emerging Genomics. [PDF]

Med J Aust
Garvey G, Norris S, Scarfe J, Lyons L.
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Ethical and Clinical Boundaries in Genomics & Newborn Screening: A Brief Report from IPIC2025. [PDF]

Int J Neonatal Screen
Yahyaoui R, Mamede L, Zach M, Taylor J, Booth C, Fisher R, Franková V, Ali A, Prevot J, Pergent M, Pena RA, Rivers E.   +11 more
europepmc   +1 more source