Results 221 to 230 of about 3,396,540 (313)

The History of and Advances in Newborn Screening: Where Do We Stand? [PDF]

Genes (Basel)
Anderson S, Velinov M.
europepmc   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

TGFBI Maintains Fibrocartilage Homeostasis by Restraining O‐GlcNAcylation to Inactivate and Destabilize ADAMTS16 in Temporomandibular Joint Osteoarthritis

Advanced Science, EarlyView.
TGFBI deficiency elevates O‐GlcNAcylation, promoting the transcriptional activation of ADAMTS16 and OGT‐mediated post‐translational modification of ADAMTS16 at Ser1170. This leads to its stabilization and accumulation, driving chondrocyte metabolic disorders and senescent phenotypes, ultimately resulting in fibrocartilage dysfunction and TMJOA ...
Xin Liu, Xinyue Luo, Jie Zhao, Ziyan Jiang, Jiayi Zhai, Taomin Zhu, Xueke Jia, Xiaohan Ma, Henghua Jiang, Huimin Li, Yaping Feng, Jin Ke, Xing Long   +12 more
wiley   +1 more source

TH/TRs–COL11A2 Axis Mediates Loss of a Differentiated Astrocyte State in Hypogyrified Brains

Advanced Science, EarlyView.
Using a gyrencephalic congenital hypothyroidism pig model, this study reveals cerebral atrophy and cortical hypogyrification. Single‐cell sequencing identifies astrocytes as major TH‐responsive cells, with the COL11A2‐enriched Astro‐2 state nearly absent.
Ying Zhang, Xiao Wang, Hongyan Ma, Pengcheng Lyu, Shuangjie Tian, Ruojun Zong, Jiani Chen, Gang Ren, Yongjiang Yang, Zichen Yang, Guosong Qin, Naishi Li, Yanfang Wang, Jianwei Jiao, Jianguo Zhao   +14 more
wiley   +1 more source

Newborn screening for external congenital anomalies at three public hospitals in Karachi, Pakistan. [PDF]

BMJ Paediatr Open
Samad L, Junejo S, Ali Muhammad A, Sherwani M, Fatima M, Nawab M, Baig-Ansari N, Mehendale FV, Roy N, Tylleskär T, Angell Bolkan H.   +10 more
europepmc   +1 more source

Periostin‐CCL3 Feedforward Signaling Loop Promotes Cardiac Fibrosis and Cardiomyocyte Necroptosis in Arrhythmogenic Cardiomyopathy

Advanced Science, EarlyView.
POSTN‐CCL3 signaling forms a feed‐forward circuit between cardiomyocytes and cardiac myofibroblasts in arrhythmogenic cardiomyopathy. POSTN activates JNK/RIP3‐dependent necroptotic signaling and JNK/ETS2‐induced CCL3 expression in cardiomyocytes. In turn, CCL3‐CCR5 signaling in cardiac myofibroblasts activates NF‐κB/p65 and promotes POSTN expression ...
Tiantian Wu, Ruotong Li, Xiaoyue Zhang, Dandan Chen, Jianmeng Yang, Mengmeng Li, Yuhan Yin, Ya Wang, Yuqiu Tian, Haoling Yan, Dan Cui, Jiangping Song, Gaoliang Ouyang   +12 more
wiley   +1 more source

Newborn Screening in Fabry Disease. [PDF]

Int J Mol Sci
Olszewska M, Schwermer K, Pawlaczyk K.
europepmc   +1 more source

Targeted Lysosomal Degradation of Extracellular and Membrane Proteins: From Receptor Hijacking to Programmable Endolysosomal Routing

Advanced Science, EarlyView.
Targeted chimeric degraders engage extracellular or membrane proteins and endocytosable cell‐surface receptors, forming ternary complexes that induce receptor‐mediated internalization. Following endocytosis, post‐endocytic sorting—not internalization alone—determines target fate.
Ke Liu, Xiyan Wang, Xiaozhen Liu, Chaoqi He, Da Qian, Xuli Meng, Liquan Zhu   +6 more
wiley   +1 more source

Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy. [PDF]

Int J Neonatal Screen
Vasco A, Meta A, Berardo C, Camerlengo D, Fumagalli F, Tonduti D, Fiamingo I, Montrasio C, Postorivo D, Rizzetto M, Fede S, Mld-Nbs Study Group, Bozic R, Ferron F, Calbi V, Zuccotti G, Aiuti A, la Marca G, Carelli S, Cereda C.   +19 more
europepmc   +1 more source

Microglial TSPAN4‐Dependent Migrasomes Promote Pathological Retinal Neovascularization via Immune‐Vascular Crosstalk

Advanced Science, EarlyView.
Combined high‐glucose and hypoxic stress switches microglia into a TSPAN4‐dependent migrasome‐producing state. These migrasomes deliver pro‐angiogenic signals to endothelial cells, activating HIF‐1α/VEGF signaling, disrupting vascular junctions, and fueling pathological neovascularization. This work uncovers migrasome‐mediated immune‐vascular crosstalk
Jingyi Xu, Jingfan Wang, Pengfei Ge, Qinyuan Gu, Hongying Li, Yuanyuan Fan, Haiyue Xie, Yangyang Lu, Yifan Lin, Xinjing Wu, Chengkun Wang, Ping Xie, Zizhong Hu   +12 more
wiley   +1 more source