Results 141 to 150 of about 255,153 (264)

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

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

National trends in neonatal diagnoses recorded at hospital discharge in Kazakhstan, 2014-2024. [PDF]

BMJ Paediatr Open
Tatibekova BN, Sagatbaeva AK, Tatibekov BN.   +2 more
europepmc   +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

Screen Positivity and Feasibility of Newborn Thyroid Screening Using Postnatal Venous Thyroid-Stimulating Hormone: A Retrospective Cohort Study From Northeast India. [PDF]

Cureus
Das M, Ksoo R, Halder S, Barman H, Boruah P.   +4 more
europepmc   +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

Lock solutions for the prevention and treatment of catheter-related bloodstream infections in newborns: a systematic review and meta-analysis protocol. [PDF]

BMJ Open
Maiocco G, Deantoni S, Maggiora E, Coscia A, Cresi F.   +4 more
europepmc   +1 more source

Imperiled Newborns

, 1987
Caplan, Arthur and Cohen, Cynthia B.
core   +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

Comparison between the thoracoabdominal rebalancing (TAR) method and the slow expiratory flow acceleration (SEFA) technique in preterm newborns: protocol for a randomised controlled clinical trial. [PDF]

BMJ Open
Macedo GKB, Pereira Costa MF, Fonseca LGA, Sampaio SSS, Monteiro KS.   +4 more
europepmc   +1 more source