Results 81 to 90 of about 16,474,355 (396)
Phenotypic continuum of NFU1‐related disorders
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022 Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov +45 more
wiley +1 more source
Screening for Tuberculosis Infection in Risk Groups in the Adult Population of Moscow
Туберкулез и болезни лёгких, 2023 The objective: to evaluate the effectiveness of screening for tuberculosis infection in risk groups among adults using the skin test with tuberculous recombinant allergen (TRA) - Diaskintest®.Subjects and Methods. In 2019-2021, screening for tuberculosis
E. M. Bogorodskaya +5 more
doaj +1 more source
Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer
Molecular Oncology, EarlyView.We used whole exome and RNA‐sequencing to profile divergent genomic and transcriptomic landscapes of microsatellite stable (MSS) and microsatellite instable (MSI) colorectal cancer. Alterations were classified using a computational score for integrative cancer variant annotation and prioritization.
Efstathios‐Iason Vlachavas +15 more
wiley +1 more source
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022 Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee +16 more
wiley +1 more source
Veterinary Sciences, 2020 Paratuberculosis (PTB) is an enteric granulomatous disease caused by Mycobacterium avium subsp. paratuberculosis (MAP) that mainly affects ruminants. Current vaccines have shown to be cost−effective control reagents, although they are restricted ...
Rakel Arrazuria +8 more
doaj +1 more source
KOLONISASI BAKTERI PATOGEN POTENSIAL PENYEBAB INFEKSI DAERAH OPERASI PADA KULIT PASIEN PRAOPERATIF [PDF]
, 2015 Backgroud : Surgical Site Infection (SSI) is associated with mortality and morbidity in hospital. The most common pathogen that caused SSI are Staphylococcus aureus, Escherichia coli, Enterobacter sp, Pseudomonas sp. , and Klebsiella sp.
Farida, Helmia +2 more
core
Stochastic variation in the FOXM1 transcription program mediates replication stress tolerance
Molecular Oncology, EarlyView.Cellular heterogeneity is a major cause of drug resistance in cancer. Segeren et al. used single‐cell transcriptomics to investigate gene expression events that correlate with sensitivity to the DNA‐damaging drugs gemcitabine and prexasertib. They show that dampened expression of transcription factor FOXM1 and its target genes protected cells against ...
Hendrika A. Segeren +4 more
wiley +1 more source
Delabelling beta-lactam allergy
Frontiers in PharmacologyBackground: Hypersensitivity to beta-lactam (BL) antibiotics is one of the most frequent reported drug allergies. In our population, it is common to find labels of BL allergy in electronic medical records (EMRs) that have not been assessed. The objective
Gustavo-Jorge Molina-Molina +21 more
doaj +1 more source
Creating A New Color Space utilizing PSO and FCM to Perform Skin Detection by using Neural Network and ANFIS [PDF]
arXiv, 2021 Skin color detection is an essential required step in various applications related to computer vision. These applications will include face detection, finding pornographic images in movies and photos, finding ethnicity, age, diagnosis, and so on. Therefore, proposing a proper skin detection method can provide solution to several problems. In this study,
arxiv
Molecular Oncology, EarlyView.The study evaluated the function and therapeutic implications of PRAME in basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). The findings demonstrate that PRAME impairs keratinocyte differentiation pathways. Furthermore, PRAME impairs anticancer response to retinoid compounds in BCC and SCC cells.
Brandon Ramchatesingh +6 more
wiley +1 more source