Results 131 to 140 of about 1,407,914 (310)

Compact 9dBEs Enable Efficient and Precise Genome Editing in Mammalian Cells and In Vivo

Advanced Science, EarlyView.
As a compact type II‐D system, the Cas9d‐based platform holds great potential for in vivo applications. Through rational engineering, its derived base editors (9dBEs) enable efficient disease modeling while facilitating single‐vector AAV delivery for in vivo genome editing. These miniature tools offer a robust strategy for basic research and biomedical
Qingquan Xiao, Zhijin Tian, Luqi Weng, Kun Xu, Dingyi Han, Zhaowei Wu, Junnan Li, Shangpu Li, Qijing Zhang, Xiaohui Zhao, Guoling Li, Yinghui Wei, Zhen Gu   +12 more
wiley   +1 more source

Considering consent : an analysis of factors influencing parental perceptions of decisional quality in the context of newborn screening [PDF]

, 2010
This thesis explores decision-making and perceptions of decisional quality in parents whose children have undergone newborn bloodspot screening. Newborn bloodspot screening is the programme through which newborn babies are screened for a variety of ...
Nicholls, Stuart G.
core   +1 more source

Genotype Characteristics and Hearing Phenotype Analysis of Newborns with Biallelic GJB2 Mutations: A 652-Case–Cohort Study

International Journal of Neonatal Screening
This study aims to investigate the genotype characteristics of newborns with biallelic GJB2 mutations and their correlation with hearing phenotypes, providing a basis for clinical genetic counseling and hearing management.
Jianjun Li, Bo Wu, Wenlan Liu
doaj   +1 more source

Screening for congenital hypothyroidism in Maltese newborns using cord blood [PDF]

, 1996
Routine screening for congenital hypothyroidism (CHT) has been introduced because clinical features of CHT may not be evident before the baby is a few weeks old and treatment at this stage may already be too late.
Rizzo, M., Vassallo Agius, Paul, Parascandalo, Raymond, Felice, Alex   +3 more
core  

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

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

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