نتایج جستجو برای: cadd

تعداد نتایج: 215  

Journal: :Journal of Experimental Biology and Agricultural Sciences 2022

Breast cancer has been attributed to be the second most common malignancy in females worldwide after skin associated with a significantly high mortality rate. Tumor suppressor genes have an indispensable role maintaining genomic integrity as well cell cycle regulation. Phosphatase and tensin homolog deleted on chromosome ten (PTEN) is one of frequently mutated human tumor genes, implicated grow...

Journal: :Journal of Internet Technology 2023

<p>Single Nucleotide Polymorphism (SNP) is the variant on a single nucleotide in genome. Functional SNP, as one of most important molecular markers disease research, has been widely used various research fields, such tumor pathogenesis, diagnosis and treatment, prognostic evaluation, drug development, etc. The number functional SNPs noncoding genome regions much more than that coding regi...

Journal: :The Philippine journal of science 2021

Diabetes is a severe chronic disease that affects 422 million adults worldwide in 2014. It was the fifth leading cause of mortality Philippines 2019. The primary death diabetic patients due to cardiovascular disease. α-Glucosidase inhibitors (AGIs) are known for their benefits because they prevent postprandial glucose level from increasing, which plays significant role development diseases. syn...

Journal: :Annals of the Rheumatic Diseases 2022

Background Chronic nonbacterial osteomyelitis (CNO) is a rare inflammatory disease affecting bone which predominantly occurs in the paediatric population. It frequently associated with pustulosis, psoriasis, bowel and arthritis, particular enthesitis-related arthritis. Activation of NLRP3 inflammasome has been implicated both human mouse models disease. Objectives To identify candidate list rar...

Journal: :British Journal of Surgery 2021

Abstract Introduction Varicose veins (VV) impact a third of the UK adult population; 10% patients develop lipodermatosclerosis and ulceration. VV often requires surgical management, however, there is high-risk recurrence. complex disease, where genetic non-genetic components contribute to overall phenotypic expression. The architecture poorly understood; we aimed uncover its basis. Method We co...

2014
Paolo Tosco Nikolaus Stiefl Gregory A. Landrum

Open-source software is especially appealing to academics, since it permits implementing novel methods into existing code with little effort, while allowing full disclosure of the underlying science; the lack of license fees and the ease of dissemination via public repositories are additional plusses. However, open-source has also been growing popular within large companies, which have recogniz...

2018
Galuh D N Astuti L Ingeborgh van den Born M Imran Khan Christian P Hamel Béatrice Bocquet Gaël Manes Mathieu Quinodoz Manir Ali Carmel Toomes Martin McKibbin Mohammed E El-Asrag Lonneke Haer-Wigman Chris F Inglehearn Graeme C M Black Carel B Hoyng Frans P M Cremers Susanne Roosing

Inherited retinal diseases (IRDs) display an enormous genetic heterogeneity. Whole exome sequencing (WES) recently identified genes that were mutated in a small proportion of IRD cases. Consequently, finding a second case or family carrying pathogenic variants in the same candidate gene often is challenging. In this study, we searched for novel candidate IRD gene-associated variants in isolated...

Journal: :F1000Research 2023

Introduction: Leishmaniasis is a disease with high mortality rates and approximately 1.5 million new cases each year. Despite the approaches advances to fight disease, there are no effective therapies. Methods: Hence, this study aims screen for natural products' structural analogs as drug candidates against leishmaniasis. We applie...

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