Results 141 to 150 of about 631,764 (332)
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 +3 more
wiley +1 more source
Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea [PDF]
Diabetes & Metabolism JournalMaternally inherited diabetes and deafness (MIDD) is a rare mitochondrial disorder primarily resulting from m.3243A>G mutation. The clinical characteristics of MIDD exhibit significant heterogeneity.
Eun Hoo Rho +6 more
doaj +1 more source
Advanced Science, EarlyView.By investigating auditory hyperexcitability in a mouse model for hereditary deafness, this study identified a subpopulation of afferent neurons of the auditory nerve marked by Otogl expression. Despite their apparently normal hearing, Otogl+/− mice display poor activation of afferent neurons processing loud sounds and an elevation of the middle the ear
Mathilde Gagliardini +24 more
wiley +1 more source
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017 The Shprintzen-Goldberg syndrome is an extremely rare disorder of the connective tissue, characterized by Marfanoid bodily habitus, craniosynostosis with peculiar facies and skeletal alterations associated with intellectual disability.
Elayne Esther Santana Hernández
doaj
Rare disease landscape in Brazil : report of a successful experience in inborn errors of metabolism [PDF]
, 2016 Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private ...
Giugliani, Roberto +5 more
core
Disentangling genetic and environmental risk factors for individual diseases from multiplex comorbidity networks [PDF]
arXiv, 2016 Most disorders are caused by a combination of multiple genetic and/or environmental factors. If two diseases are caused by the same molecular mechanism, they tend to co-occur in patients. Here we provide a quantitative method to disentangle how much genetic or environmental risk factors contribute to the pathogenesis of 358 individual diseases ...
arxiv
Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases
Kidney Diseases, 2017 Background: Inherited metabolic disorders or inborn errors of metabolism are caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids.
M. Costanzo +5 more
semanticscholar +1 more source
Advanced Science, EarlyView.High‐end normal hemoglobin levels are associated with an increased odds of polycystic ovary syndrome (PCOS), potentially through a mechanism of elevating testosterone levels involving the hypoxia‐inducible factor 1 (HIF‐1) pathway. These findings provide novel insights into the pathophysiology of PCOS and highlight that hemoglobin levels may serve as a
Guiquan Wang +13 more
wiley +1 more source
How diseases became "genetic".
Ciência & Saúde Coletiva, 2019 This article examines the origins of the term "genetic disease." In the late 19 and early 20th century, an earlier idea that diseases that occur in families reflect a vague familiar "predisposition" was replaced by the view that such diseases have ...
I. Löwy
semanticscholar +1 more source
Advanced Science, EarlyView.This study shows that Foxp1 regulates the USP20–HIF1ɑ‐Hand1 pathway, controlling cardiomyocyte metabolic reprogramming, proliferation, and heart regeneration. By targeting Hand1, the downstream effector, this work suggests a promising molecular target for gene therapy of heart failure, potentially guiding the development of novel molecular ...
Yanfang Wang +19 more
wiley +1 more source