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Comparison of regional gene expression differences in the brains of the domestic dog and human
Springer Science and Business Media LLC - - 2004
Erin Kennerly, Susanne Thomson, Natasha J. Olby, Matthew Breen, Greg Gibson
CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements
Springer Science and Business Media LLC - Tập 16 - Trang 1-17 - 2022
Jesús-José Ferre-Fernández, Sanaa Muheisen, Samuel Thompson, Elena V. Semina
FOXC1 encodes a forkhead-domain transcription factor associated with several ocular disorders. Correct FOXC1 dosage is critical to normal development, yet the mechanisms controlling its expression remain unknown. Together with FOXQ1 and FOXF2, FOXC1 is part of a cluster of FOX genes conserved in vertebrates. CRISPR-Cas9-mediated dissection of genomic sequences surrounding two zebrafish orthologs o... hiện toàn bộ
How to create innovation by building the translation bridge from basic research into medicinal drugs: an industrial perspective
Springer Science and Business Media LLC - Tập 7 - Trang 1-6 - 2013
Paul G Germann, Alexander Schuhmacher, Juan Harrison, Ronald Law, Kevin Haug, Gordon Wong
The global healthcare industry is undergoing substantial changes and adaptations to the constant decline of approved new medical entities. This decrease in internal research productivity is resulting in a major decline of patent-protected sales (patent cliff) of most of the pharmaceutical companies. Three major global adaptive trends as driving forces to cope with these challenges are evident: cut... hiện toàn bộ
Molecular Diagnostics: George P. Patrinos and Wilhelm J. Ansorge (eds) Elsevier (Academic Press); 2nd edn; 2010
Springer Science and Business Media LLC - Tập 5 - Trang 1-2 - 2011
Jean-Jacques Cassiman
The Human Cytochrome P450 (CYP) Allele Nomenclature website: a peer-reviewed database of CYP variants and their associated effects
Springer Science and Business Media LLC - Tập 4 - Trang 1-4 - 2010
Sarah C Sim, Magnus Ingelman-Sundberg
Pharmacogenetics affects both pharmacokinetics and pharmacodynamics, thereby influencing an individual's response to drugs, both in terms of response and adverse reactions. Within the area of pharmacogenetics, findings of genetic variation influencing drug levels have been more prevalent, and variation in the cytochrome P450 (CYP) enzymes is one of the most common causes. Much of the work concerni... hiện toàn bộ
Correction to: Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities
Springer Science and Business Media LLC - Tập 15 - Trang 1-1 - 2021
Tesfaye B. Mersha, Tilahun Abebe
High-throughput screening of circRNAs reveals novel mechanisms of tuberous sclerosis complex-related renal angiomyolipoma
Springer Science and Business Media LLC - Tập 15 - Trang 1-10 - 2021
Yang Zhao, Hao Guo, Wenda Wang, Guoyang Zheng, Zhan Wang, Xu Wang, Yushi Zhang
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by lesions throughout the body. Our previous study showed the abnormal up-regulation of miRNAs plays an important part in the pathogenesis of TSC-related renal angiomyolipoma (TSC-RAML). circRNAs were known as important regulators of miRNA, but little is known about the circRNAs in TSC-RAMLs. Microarray chips and R... hiện toàn bộ
Microarray analysis identification of key pathways and interaction network of differential gene expressions during osteogenic differentiation
Springer Science and Business Media LLC - Tập 14 - Trang 1-13 - 2020
Fatemeh Khodabandehloo, Sara Taleahmad, Reza Aflatoonian, Farzad Rajaei, Zahra Zandieh, Marjan Nassiri-Asl, Mohamadreza Baghaban Eslaminejad
Adult bone marrow-derived mesenchymal stem cells (BM-MSCs) are multipotent stem cells that can differentiate into three lineages. They are suitable sources for cell-based therapy and regenerative medicine applications. This study aims to evaluate the hub genes and key pathways of differentially expressed genes (DEGs) related to osteogenesis by bioinformatics analysis in three different days. The D... hiện toàn bộ
Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis
Springer Science and Business Media LLC - Tập 17 - Trang 1-6 - 2023
Chunyu Li, Yanbing Hou, Qianqian Wei, Junyu Lin, Zheng Jiang, Qirui Jiang, Tianmi Yang, Yi Xiao, Jingxuan Huang, Yangfan Cheng, Ruwei Ou, Kuncheng Liu, Xueping Chen, Wei Song, Bi Zhao, Ying Wu, Bei Cao, Yongping Chen, Huifang Shang
Recently, several rare variants of SPTLC1 were identified as disease cause for juvenile amyotrophic lateral sclerosis (ALS) by disrupting the normal homeostatic regulation of serine palmitoyltransferase (SPT). However, further exploration of the rare variants in large cohorts was still necessary. Meanwhile, SPTLC2 plays a similar role as SPTLC1 in the SPT function. To explore the genetic role of S... hiện toàn bộ
An embedded method for gene identification problems involving unwanted data heterogeneity
Springer Science and Business Media LLC - Tập 13 - Trang 1-10 - 2019
Meng Lu
Modern applications such as bioinformatics collecting data in various ways can easily result in heterogeneous data. Traditional variable selection methods assume samples are independent and identically distributed, which however is not suitable for these applications. Some existing statistical models capable of taking care of unwanted variation were developed for gene identification involving hete... hiện toàn bộ
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