Results 121 to 130 of about 45,424 (315)

Homocystinuria: A New Inborn Error of Metabolism Associated With Mental Deficiency [PDF]

, 1963

openalex   +1 more source

Dysmorphology of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
As we discover the molecular mechanism of disorders, eventually all dysmorphic syndromes will ultimately be considered biochemical defects. An overview on the recognition and classification of dysmorphic features will be provided. Categories of inborn errors of metabolism associated with dysmorphic manifestations will be discussed. For e.g.
openaire   +3 more sources

Leveraging Automated Machine Learning for Environmental Data‐Driven Genetic Analysis and Genomic Prediction in Maize Hybrids

Advanced Science, EarlyView.
An automated machine learning framework integrating environmental and genomic data enhances genetic analysis and genomic prediction in maize. By leveraging dimension‐reduced environmental parameters, it reveals trait‐environment relationships and identifies genetic markers that govern phenotypic plasticity and genotype‐by‐environment interactions.
Kunhui He, Tingxi Yu, Shang Gao, Shoukun Chen, Liang Li, Xuecai Zhang, Changling Huang, Yunbi Xu, Jiankang Wang, Boddupalli M. Prasanna, Sarah Hearne, Xinhai Li, Huihui Li   +12 more
wiley   +1 more source

Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients

Molecular Genetics and Metabolism Reports, 2019
Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal
Yvan Herenger, Emmanuelle Maes, Laurent François, Jeremy Pasco, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Manuel Schiff   +7 more
doaj  

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Molecular Genetics and Metabolism Reports, 2020
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism.
S. Pajares, R.M. López, L. Gort, A. Argudo-Ramírez, J.L. Marín, J.M. González de Aledo-Castillo, J. García-Villoria, J.A. Arranz, M. Del Toro, F. Tort, O. Ugarteburu, M.D. Casellas, R. Fernández, A. Ribes   +13 more
doaj  

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

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

Inborn Errors of Metabolism. Part 2: Laboratory Methods [PDF]

, 1966

openalex   +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

Models of Innate Neural Attractors and Their Applications for Neural Information Processing [PDF]

arXiv, 2015
In this work we reveal and explore a new class of attractor neural networks, based on inborn connections provided by model molecular markers, the molecular marker based attractor neural networks (MMBANN). We have explored conditions for the existence of attractor states, critical relations between their parameters and the spectrum of single neuron ...
arxiv