Results 111 to 120 of about 1,606,043 (303)

Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants

Molecular Genetics and Metabolism Reports
Isovaleric acidemia (IVA) is a rare autosomal recessive disorder that manifests as a deficiency of isovaleryl-CoA dehydrogenase (IVD), a key enzyme in leucine metabolism.
Huizhong Li, Fang Shao, Wei Zhou
doaj   +1 more source

Irish Cervical Screening Programme annual report 2005 [PDF]

, 2006
Irish Cervical Screening Programme ...
Irish Cervical Screening Programme (ICSP)
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Dual‐Gene Edited Extracellular Vesicles Remodel the Redox Homeostasis to Inhibit Ferroptosis in Intervertebral Disc Degeneration

Advanced Science, EarlyView.
ABSTRACT Intervertebral disc degeneration (IDD) is driven by ferroptosis of nucleus pulposus cells (NPCs) as a core pathological mechanism. Nucleus pulposus progenitor cells (NPPCs), exhibiting stem cell‐like properties, yield extracellular vesicles (PEVs) with high affinity for NPCs and enable targeted phenotypic regulation.
Jing Yan, Yazhou Lin, Shuo Miao, Minghao Chao, Chengbai Dai, Ziwen Hao, Rui Chen, Ming Guan, Bin Pan, Fenglei Gao, Quan Zhou   +10 more
wiley   +1 more source

Temporal trend in mortality due to congenital heart disease in China from 2008 to 2021

Chinese Medical Journal
. Background:. Congenital heart disease (CHD) is a leading cause of birth defect-related mortality. However, more recent CHD mortality data for China are lacking.
Youping Tian, Xiaojing Hu, Qing Gu, Miao Yang, Pin Jia, Xiaojing Ma, Xiaoling Ge, Quming Zhao, Fang Liu, Ming Ye, Weili Yan, Guoying Huang, Jing Ni   +12 more
doaj   +1 more source

Intrasplenic Thymus Organogenesis from Injectable Tissue Fragments Restores Functional T‐Cell Immunity

Advanced Science, EarlyView.
Clinical intramuscular thymus transplantation yields only short‐lived efficacy and marginal therapeutic benefits. Benefiting from the spleen's intrinsic strengths—rapid vascular perfusion, abundant developmental factors, and resident progenitors—the intrasplenic thymic grafts achieve robust thymic regeneration and substantial T‐cell reconstitution ...
Shaocong Wang, Zijian Zhang, Fulin Dai, Zhijie Yin, Zhen Xing, Yurong Li, Haochong Lei, Junfeng Zhang, Chunyan Liu, Yan Li, Lei Dong   +10 more
wiley   +1 more source

ZBTB18 Dysfunction Promotes Neuropathic Pain via CHD4‐based Epigenetic Disinhibition of CLIC1 Channels in Sensory Neurons

Advanced Science, EarlyView.
In this study, we identify a novel functional role of ZBTB18 in regulating trigeminal‐mediated neuropathic pain. Nerve injury reduces ZBTB18 in trigeminal ganglion neurons, impairing CHD4/NuRD recruitment and de‐repressing Clic1. Elevated CLIC1 enhances chloride channel activity and neuronal hyperexcitability, thereby driving pain.
Shoupeng Wang, Zitong Huang, Yu Tao, Yunmei Zhang, Yufang Sun, Dongsheng Jiang, Weiwei Lu, Fuhai Ji, Gang Chen, Min Xu, Yuan Zhang, Jin Tao   +11 more
wiley   +1 more source

Sequential Patterning of Photoresponsive Hydrogels Directs Crypt Fission and Reveals the Role of Epithelial Curvature on Fission Symmetry

Advanced Science, EarlyView.
Deterministic crypt fission is achieved in intestinal organoids using photopatternable hydrogels with spatiotemporal control. Daughter‐crypt symmetry is shown to depend on parent‐crypt geometry and epithelial curvature, while myosin‐dependent mechanosensing links tissue shape to regenerative outcomes.
Delaney L. McNally, Kaustav Bera, Nolan R. Petrich, Alex Khang, Marilyne Coulombe, David Castillo‐Azofeifa, Ophir D. Klein, Peter J. Dempsey, Kristi S. Anseth   +8 more
wiley   +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

Reference Values of Peripheral Perfusion Index in Healthy Neonates and Preliminary Observations of Congenital Heart Disease in Tibet: A Cohort Study

International Journal of Neonatal Screening
The peripheral perfusion index (PPI) is a non-invasive indicator of peripheral tissue perfusion in neonates. However, reference values for the PPI at different postnatal time points in healthy neonates residing at high altitudes, as well as early ...
Miaomiao Wei, Yaoyao Dong, Ciren Zhuoma, Lin Peng, Youping Tian, Qing Gu, Sheng Wei, Bianba Zhuoma, Xiaojing Hu, Guoying Huang   +9 more
doaj   +1 more source

National Neonatal Transport Programme: clinical report 2004-2008

, 2009
As is internationally recognised, the success of the centralisation of resources and expertise In the area of neonatology Is dependent on a reliable and effective transport service, The NNTP Is achieving this by the provision of: A comprehensive ...
Bowden, Ann
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