Results 181 to 190 of about 72,943 (293)

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, EarlyView.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

Expression and purification of Steroidogenic Factor-1 (NR5A1) nuclear receptor ligand binding domain complexed with the signaling phosphoinositide lipid PI(3,4,5)P₃. [PDF]

Methods Enzymol
Campbell AN, Cutright AJ, Martin J, Kheda A, Loi MNC, Blind RD.   +5 more
europepmc   +1 more source

Dietary Phosphatidylinositol [PDF]

, 2020
openaire   +1 more source

Unraveling the causal link between lipidomes and unstable angina pectoris: A Mendelian randomization analysis. [PDF]

Medicine (Baltimore)
Pan W, Yu M, Chen Z.
europepmc   +1 more source

Phosphatidylinositol-Antikörper [PDF]

, 2019
openaire   +1 more source

ITGA5 as a Dual Regulator of Epithelial‐Mesenchymal Transition and Epithelial Cell Anoikis Resistance: Functional Validation and Drug Prediction

Cell Proliferation, EarlyView.
Proteomics and functional validation reveal ITGA5 as a dual promoter of epithelial‐mesenchymal transition and anoikis resistance in human bronchial epithelium: targeting ITGA5 represents a novel therapeutic strategy for asthma airway remodelling. ABSTRACT Airway remodelling is a major contributor to persistent airflow limitation and irreversible lung ...
Ting Wang, Ling Rao, Xiaofang Li, Miaofen Zhang, Huiting Huang, Zhiyan Luo, Gang Liao, Yong Jiang, Shaofeng Zhan, Qiong Liu, Xiufang Huang   +10 more
wiley   +1 more source

FAHFAs are detected in postprandial chylomicron and VLDL fractions and can be released from TG estolides by LPL in vitro. [PDF]

J Lipid Res
Milonaityte D, Brejchova K, Srp J, Kudova E, Chodounska H, Balas L, Durand T, Abumrad NA, Kuda O.   +8 more
europepmc   +1 more source

Unveiling Gut Homeostasis Disruption in Sepsis: Towards an Integrated Mechanistic and Translational Roadmap

Cell Proliferation, EarlyView.
Elucidating the contribution of gut‐organ axes will provide new insights for developing combined therapeutic strategies against sepsis‐associated multiple organ dysfunction. ABSTRACT Sepsis, a life‐threatening clinical syndrome precipitated by a maladaptive host response to infection, is associated with substantial morbidity and high mortality rates ...
Yichen Bao, Lin Qi, Guijun Zou, Xingpeng Yang, Yizhao Ma, Zhifu Li, Xiaohui Du, Pengyue Zhao   +7 more
wiley   +1 more source

Mendelian randomization analysis reveals potential causal relationships between serum lipid metabolites and prostate cancer risk. [PDF]

Discov Oncol
Guo C, Wu L, Xu L.
europepmc   +1 more source