Results 51 to 60 of about 176,003 (260)

Detection of copy number variants in African goats using whole genome sequence data

BMC Genomics, 2021
Background Copy number variations (CNV) are a significant source of variation in the genome and are therefore essential to the understanding of genetic characterization.
Wilson Nandolo, Gábor Mészáros, Maria Wurzinger, Liveness J. Banda, Timothy N. Gondwe, Henry A. Mulindwa, Helen N. Nakimbugwe, Emily L. Clark, M. Jennifer Woodward-Greene, Mei Liu, the VarGoats Consortium, George E. Liu, Curtis P. Van Tassell, Benjamin D. Rosen, Johann Sölkner   +14 more
doaj   +1 more source

Copy number variation in bipolar disorder [PDF]

Molecular Psychiatry, 2015
Large (>100 kb), rare (500 kb) CNVs in BD compared with SZ, most notably for deletions >1 Mb (P=9 × 10(-4)).
Green, EK, Rees, E, Walters, JTR, Smith, K-G, Forty, L, Grozeva, D, Moran, JL, Sklar, P, Ripke, S, Chambert, KD, Genovese, G, McCarroll, SA, Jones, I, Jones, L, Owen, MJ, O’Donovan, MC, Craddock, N, Kirov, G   +17 more
openaire   +3 more sources

By dawn or dusk—how circadian timing rewrites bacterial infection outcomes

FEBS Letters, EarlyView.
The circadian clock shapes immune function, yet its influence on infection outcomes is only beginning to be understood. This review highlights how circadian timing alters host responses to the bacterial pathogens Salmonella enterica, Listeria monocytogenes, and Streptococcus pneumoniae revealing that the effectiveness of immune defense depends not only
Devons Mo, Catherine S. Palmer, Jacqueline M. Kimmey   +2 more
wiley   +1 more source

Enhancer chip: detecting human copy number variations in regulatory elements.

PLoS ONE, 2012
Critical functional properties are embedded in the non-coding portion of the human genome. Recent successful studies have shown that variations in distant-acting gene enhancer sequences can contribute to disease.
Marco Savarese, Giulio Piluso, Daniela Orteschi, Giuseppina Di Fruscio, Manuela Dionisi, Francesca del Vecchio Blanco, Annalaura Torella, Teresa Giugliano, Michele Iacomino, Marcella Zollino, Giovanni Neri, Vincenzo Nigro   +11 more
doaj   +1 more source

Copy Number Variation across European Populations

PLoS ONE, 2011
Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide one such convenient and informative source.
Chen, Wanting, Hayward, Caroline, Wright, Alan F, Hicks, Andrew A, Vitart, Veronique, Knott, Sara, Wild, Sarah H, Pramstaller, Peter P, Wilson, James F, Rudan, Igor, Porteous, David J   +10 more
openaire   +5 more sources

The role and implications of mammalian cellular circadian entrainment

FEBS Letters, EarlyView.
At their most fundamental level, mammalian circadian rhythms occur inside every individual cell. To tell the correct time, cells must align (or ‘entrain’) their circadian rhythm to the external environment. In this review, we highlight how cells entrain to the major circadian cues of light, feeding and temperature, and the implications this has for our
Priya Crosby
wiley   +1 more source

Disordered but rhythmic—the role of intrinsic protein disorder in eukaryotic circadian timing

FEBS Letters, EarlyView.
Unstructured domains known as intrinsically disordered regions (IDRs) are present in nearly every part of the eukaryotic core circadian oscillator. IDRs enable many diverse inter‐ and intramolecular interactions that support clock function. IDR conformations are highly tunable by post‐translational modifications and environmental conditions, which ...
Emery T. Usher, Jacqueline F. Pelham
wiley   +1 more source

Whole-Genome/Exome Sequencing Uncovers Mutations and Copy Number Variations in Primary Diffuse Large B-Cell Lymphoma of the Central Nervous System

Frontiers in Genetics, 2022
Background/objective: Identification of key genetic alterations is of importance in the targeted therapies of primary central nervous system lymphoma (PCNSL). However, only a small number of studies have been carried out in PCNSL.
Qiong Zhu, Jianchao Wang, Wenfang Zhang, Weifeng Zhu, Zaizeng Wu, Yanping Chen, Musheng Chen, Limei Zheng, Jianqing Tang, Sheng Zhang, Di Wang, Xingfu Wang, Gang Chen   +12 more
doaj   +1 more source

Function‐driven design of a surrogate interleukin‐2 receptor ligand

FEBS Letters, EarlyView.
Interleukin (IL)‐2 signaling can be achieved and precisely fine‐tuned through the affinity, distance, and orientation of the heterodimeric receptors with their ligands. We designed a biased IL‐2 surrogate ligand that selectively promotes effector T and natural killer cell activation and differentiation. Interleukin (IL) receptors play a pivotal role in
Ziwei Tang, Zelin Cheng, Teng Li, Fulian Wang, Liangminghui Zhang, Xiuxiu He, Lili Liu, Wei Wang, Aibin Liang, Guang Yang   +9 more
wiley   +1 more source

Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report

European Journal of Medical Research, 2021
Background Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and
Taccyanna M. Ali, Emilia Mateu-Brull, Nuria Balaguer, Camila Dantas, Haline Risso Borges, Mariana Quintans Guerra de Oliveira, Lorena Rodrigo, Inmaculada Campos-Galindo, Roser Navarro, Miguel Milán   +9 more
doaj   +1 more source