Results 21 to 30 of about 365 (96)

Splicing to keep splicing: A feedback system for cellular homeostasis and state transition. [PDF]

open access: yesClin Transl Med
ABSTRACT Background Alternative splicing (AS) plays a crucial role in regulating gene expression and governing proteomic diversity by generating multiple protein isoforms from a single gene. Increasing evidence has highlighted the regulation for pre‐mRNA splicing of the splicing factors (SFs).
Guo Z, Zhang X, Li Y, Chen Y, Xu Y.
europepmc   +2 more sources

Lipid‐correlated alterations in the transcriptome are enriched in several specific pathways in the postmortem prefrontal cortex of Japanese patients with schizophrenia

open access: yesNeuropsychopharmacology Reports, Volume 43, Issue 3, Page 403-413, September 2023., 2023
This study investigated the link between gene expression and lipid abnormalities in schizophrenia. By analyzing postmortem prefrontal cortex samples, the researchers found alterations in gene expression associated with phosphoinositide 3‐kinase (PI3K)‐Akt signaling, the complement system, and ether lipid metabolism pathway.
Wataru Arihisa   +15 more
wiley   +1 more source

Understanding and Targeting the Endocannabinoid System with Activity‐Based Protein Profiling

open access: yesIsrael Journal of Chemistry, Volume 63, Issue 3-4, March 2023., 2023
Abstract The endocannabinoid system (ECS) is a widespread modulatory system composed of cannabinoid receptors, endogenous signaling lipids termed endocannabinoids and the enzymes for the biosynthesis and degradation of these endocannabinoids. It plays a crucial role in diverse (patho)physiological functions, such as neurotransmission, neural ...
Na Zhu   +2 more
wiley   +1 more source

Chemoproteomik‐basierte Identifikation von 4‐Oxo‐β‐lactamen als Inhibitoren der Dipeptidylpeptidasen 8 und 9

open access: yesAngewandte Chemie, Volume 134, Issue 47, November 21, 2022., 2022
Die Entwicklung von Dipeptidylpeptidase 8‐ und 9‐ (DPP8/9)‐Inhibitoren mit hoher Selektivität ist eine große Herausforderung der Chemischen Biologie. Mithilfe von Aktivitäts‐basiertem Protein‐Profiling und Röntgenkristallstrukturanalyse konnten wir 4‐Oxo‐β‐lactame als potente, nicht‐Substrat‐artige nanomolare DPP8/9‐Inhibitoren mit unterschiedlichen ...
Luís A. R. Carvalho   +17 more
wiley   +1 more source

Chemoproteomics‐Enabled Identification of 4‐Oxo‐β‐Lactams as Inhibitors of Dipeptidyl Peptidases 8 and 9

open access: yesAngewandte Chemie International Edition, Volume 61, Issue 47, November 21, 2022., 2022
Achieving Dipeptidyl Peptidase 8 and 9 (DPP8/9) selectivity is a current challenge in chemical biology. Supported by activity‐based protein profiling and X‐ray crystallography, we disclose 4‐oxo‐β‐lactams as potent, non‐substrate‐like nanomolar DPP8/9 inhibitors with different binding modes for DPP8/9, including an unprecedented targeting of an ...
Luís A. R. Carvalho   +17 more
wiley   +1 more source

Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery

open access: yesHuman Mutation, Volume 43, Issue 6, Page 800-811, June 2022., 2022
Here we present Genomics4RD, an integrated and internationally accessible web platform, to share, store, and visualize phenotypic and multiomic data from rare disease patients across Canada. Genomics4RD is connected to several other rare disease databases for the purposes of matchmaking and disease‐gene discovery.
Hannah G. Driver   +23 more
wiley   +1 more source

Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease

open access: yesHuman Mutation, Volume 43, Issue 4, Page 477-486, April 2022., 2022
Abstract The synthesis of cytochrome c oxidase 2 (SCO2) gene encodes for a mitochondrial located metallochaperone essential for the synthesis of the cytochrome c oxidase (COX) subunit 2. Recessive mutations in SCO2 have been reported in several cases with fatal infantile cardioencephalomyopathy with COX deficiency and in only four cases with axonal ...
Andrea Gangfuß   +13 more
wiley   +1 more source

Potential Impact of Cancer Susceptibility Genes on Lung Cancer Metastasis

open access: yesJournal of Oncology, Volume 2022, Issue 1, 2022., 2022
Background. Studies of prognosis‐related molecular markers are an important tool to uncover the mechanism of tumour metastasis. Cancer susceptibility gene testing is an important tool for genetic counselling of cancer risk. However, the impact of lung cancer susceptibility genes (LCSGs) on lung cancer metastasis and prognosis has not been well studied.
Jiaqing Wang   +8 more
wiley   +1 more source

Data_Sheet_1_Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.docx

open access: yes, 2021
Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature.
Liena E. O. Elsayed (11305473)   +28 more
core   +1 more source

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