Results 51 to 60 of about 35,186 (239)

The Reconstruction of Peripheral Auditory Circuit: Recent Advances and Future Challenges

Advanced Science, EarlyView.
This paper summarizes the potential of biomaterials, stem cells, and gene editing technologies in the regeneration of inner ear hair cells, spiral ganglion neurons, and inner ear organoids. Challenges and potential developments are discussed and explored.
Zhe Li, Ying Zhang, Zhenyu Xiao, Jieyu Qi   +3 more
wiley   +1 more source

Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]

, 2008
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo, Gerard Vockley, Jacqueline Hoover, Jushua Michel, Laura Ferris, Lisa Kratz, Miao He, Michael Gibson, Richard Kelley   +8 more
core   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications

Advanced Science, EarlyView.
HDAC6 regulates primary cilia, crucial for cellular signalling and environmental responses. Dysregulation of HDAC6 contributes to ciliopathies, affecting multiple organs. This review examines HDAC6's role in ciliogenesis, its interaction with signaling molecules, and its potential as a therapeutic target.
Zhiyi Wang, Xiaofan Zhu, Zhenzhou Huang, Kaidi Ren, Jie Ran, Yang Yang   +5 more
wiley   +1 more source

Inborn Errors of Fructose Metabolism. What Can We Learn from Them? [PDF]

, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Tran, C.
core   +2 more sources

3D‐Printed Biomimetic Vascular Scaffold Crosslinked with Heparan Sulfate for Sustained Release of PDGFB‐LG4 Fusion Protein Promotes Bone Regeneration

Advanced Science, EarlyView.
Fusion protein PDGFB‐LG4 exhibits superior osteoinductive and angiogenic activity compared to PDGFB. The PCLHS‐PDGFB‐LG4 scaffold, featuring perfusable and permeable vascular‐like networks, promotes angiogenesis and osteogenesis through the sustained release of PDGFB‐LG4, thereby accelerating the bone defect repair process.
Jiahua Duan, Gaofei Qian, Huikang Zhang, Feifan Wang, Qiang Tian, Dong Lei, Jianning Zhao   +6 more
wiley   +1 more source

Targeting miRNA‐1a and miRNA‐15b: A Novel Combinatorial Strategy to Drive Adult Cardiac Regeneration

Advanced Science, EarlyView.
The article explores a novel therapeutic strategy for cardiac regeneration by targeting miRNA‐1a and miRNA‐15b. Combinatorial inhibition of miR‐1a and miR‐15b enhances cardiomyocyte proliferation, improves heart function, and reduces fibrosis in myocardial infarction models.
Ting Yuan, Meiqian Wu, Chaonan Zhu, Hao Yu, Minh Duc Pham, Katharina Bottermann, Yijie Mao, Yue Wang, Mathias Langner, Mirko Peitzsch, Arka Provo Das, Silke Kauferstein, Jonathan Ward, Peter Mirtschink, Andreas Michael Zeiher, Stefanie Dimmeler, Jaya Krishnan   +16 more
wiley   +1 more source

Post‐Translational Modifications in Cilia and Ciliopathies

Advanced Science, EarlyView.
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley   +1 more source

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

The Virginia Sickle Cell Anemia Awareness Program: Education, Screening, and Counseling [PDF]

, 1977
In 1968, a program of screening for sickle trait carriers was begun as part of the work of the Hematology Division, Department of Medicine, at the Medical College of Virginia.
Cooper, Florence N., Scott, Robert B.
core   +1 more source