Results 91 to 100 of about 9,050 (259)

SIRT1 Prevents Ferroptosis in Corneal Epithelial Cells by Enhancing HIF1α Protein Stability in Dry Eye Disease

Advanced Science, EarlyView.
Hyperosmotic stress drives ferroptosis in corneal epithelium via SIRT1 downregulation. This work demonstrates that SIRT1 activation stabilizes HIF1α, which transcriptionally upregulates GPX4 to inhibit lipid peroxidation and cell death. The identified SIRT1/HIF1α/GPX4 axis reveals a novel defense mechanism and potential therapy for dry eye disease ...
Lili Lian, Zhenmin Le, Xuanqiao Ye, Zimo Wang, Jiuxiao Li, Chenyu Dong, Yetao Shen, Jiazheng Li, Yueping Ren, Xiaoyin Ma, Wei Chen, Qinxiang Zheng   +11 more
wiley   +1 more source

Hainan Longevity Model, Senile Degeneration, Cognitive Disability and Healthy Longevity

AGING MEDICINE, EarlyView.
Investigating centenarians who exemplify healthy longevity can aid in formulating preventive strategies aimed at achieving health and extending lifespan in the context of population aging. Hainan longevity model (HLM) plays key roles in promoting healthy longevity and provides scientific evidence for achieving healthy longevity in the older population.
Shihui Fu, Jiacai Lin, Qianshuo Liu, Lianbo Gao, Zhirui Li, Feng Lin, Leixing Xie, Xiong Liu, Wenkai Xiao, Qiwei Zhu, Fan Wang, Jin Zheng, Yali Zhao, Xiaolei Chen, Yao Yao, Long Feng   +15 more
wiley   +1 more source

Accelerating Biosensor Discovery: A Computationally‐Driven Pipeline for Microplastics Monitoring

Advanced Intelligent Discovery, EarlyView.
A computationally guided pipeline unites molecular simulation, synthetic biology, electrochemical engineering, and machine learning to accelerate biosensor discovery. A Bacillus anthracis carbohydrate‐binding module is used to develop a high‐performance micro‐ and nanoplastics sensor with greatly reduced error and variability.
Gabriel X. Pereira, Marcos de C. Leite, Pedro H. M. Zanineli, Juliana N. Y. Costa, Débora M. Cunha, Sophia P. Serra, Pedro H. Sophia, Flávio M. Shimizu, Yasmin W. Moura, Célio C. Oliveira, Gabriel R. Schleder, Gabriela F. Persinoti, Leandro Merces, Renato S. Lima   +13 more
wiley   +1 more source

Rapid and Stereoselective Ring‐Opening Polymerization of rac‐Lactide Enabled by a Chiral Cyclopropenimine–Thiourea Catalyst

Angewandte Chemie, EarlyView.
Chiral cyclopropenimine–thiourea organocatalysts enabled both high reactivity and precise stereocontrol in the ring‐opening polymerization of rac‐lactide. The bifunctional system exhibited a TOF up to 1,710 h−1 with Pm = 0.90 at 25°C, and achieved Pm = 0.99 at −78°C while maintaining a TOF of 16.3 h−1.
Sumin Lee, Hooseung Lee, Hyeongwoo Nam, Seungyun Jo, Minseong Kim, Dongwook Kim, Du Yeol Ryu, Sarah Yunmi Lee, Byeong‐Su Kim   +8 more
wiley   +2 more sources

Comorbidities and clinical severity of COVID-19: systematic review and meta-analysis

Revista Habanera de Ciencias Médicas, 2020
Introduction: The recent emergence of COVID-19 has become a serious global health problem. The identification of comorbidities associated with the clinical severity in COVID-19 patients is of paramount significance for the appropriate therapeutic ...
Thais María Plasencia-Urizarri, Raúl Aguilera-Rodríguez, Luis Enrique Almaguer Mederos   +2 more
doaj  

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Ataxia telangiectasia

Seminars in Pediatric Neurology, 1998
The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is as complex and intriguing to cell biologists as this classic disorder has been to clinicians for four decades. The phenotype is both variable and stereotyped, with significant differences between patients in the rate of ...
openaire   +2 more sources

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source