Results 11 to 20 of about 338,804 (265)

Rare or Overlooked? Structural Disruption of Regulatory Domains in Human Neurocristopathies

Frontiers in Genetics, 2020
In the last few years, the role of non-coding regulatory elements and their involvement in human disease have received great attention. Among the non-coding regulatory sequences, enhancers are particularly important for the proper establishment of cell ...
Víctor Sánchez-Gaya, Maria Mariner-Faulí, Alvaro Rada-Iglesias, Alvaro Rada-Iglesias, Alvaro Rada-Iglesias   +4 more
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VarSite: Disease variants and protein structure [PDF]

Protein Science, 2019
AbstractVarSite is a web server mapping known disease‐associated variants from UniProt and ClinVar, together with natural variants from gnomAD, onto protein 3D structures in the Protein Data Bank. The analyses are primarily image‐based and provide both an overview for each human protein, as well as a report for any specific variant of interest.
Roman A. Laskowski, James D. Stephenson, Ian Sillitoe, Christine A. Orengo, Janet M. Thornton   +4 more
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Structural variant identification and characterization

Chromosome Research, 2020
Structural variant (SV) differences between human genomes can cause germline and mosaic disease as well as inter-individual variation. De-regulation of accurate DNA repair and genomic surveillance mechanisms results in a large number of SVs in cancer. Analysis of the DNA sequences at SV breakpoints can help identify pathways of mutagenesis and regions ...
Parithi Balachandran, Christine R. Beck
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Resolving the roles of structural variants [PDF]

Nature Reviews Genetics, 2020
Structural variants have proved difficult to characterize using traditional sequencing approaches. In two new studies in Cell, the authors demonstrate the use of pan-genome approaches to identify and explore the impact of structural variants in crop genomes and reveal variants linked to specific agronomic traits.
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The effects of common structural variants on 3D chromatin structure [PDF]

BMC Genomics, 2020
Abstract Background Three-dimensional spatial organization of chromosomes is defined by highly self-interacting regions 0.1–1 Mb in size termed Topological Associating Domains (TADs). Genetic factors that explain dynamic variation in TAD structure are not understood.
Shanta, O., Noor, A., Sebat, J., Chaisson, M., Sanders, A., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E., Rodriguez, O., Guo, L., Collins, R., Fan, X., Wen, J., Handsaker, R., Fairley, S., Kronenberg, Z., Kong, X., Hormozdiari, F., Lee, D., Wenger, A., Hastie, A., Antaki, D., Anantharaman, T., Audano, P., Brand, H., Cantsilieris, S., Cao, H., Cerveira, E., Chen, C., Chen, X., Chin, C., Chong, Z., Chuang, N., Lambert, C., Church, D., Clarke, L., Farrell, A., Flores, J., Galeey, T., Gujral, M., Guryev, V., Heaton, W., Korlach, J., Kumar, S., Kwon, J., Lam, E., Lee, J., Lee, J., Lee, W., Lee, S., Li, S., Marks, P., Viaud-Martinez, K., Meiers, S., Munson, K., Navarro, F., Nelson, B., Nodzak, C., Kyriazopoulou-Panagiotopoulou, S., Pang, A., Rosanio, G., Ryan, M., Stuetz, A., Spierings, D., Ward, A., Welch, A., Xiao, M., Xu, W., Zhang, C., Zhu, Q., Zheng-Bradley, X., Lowy, E., Yakneen, S., McCarroll, S., Jun, G., Ding, L., Koh, C., Flicek, P., Chen, K., Gerstein, M., Kwok, P., Lansdorp, P., Marth, G., Shi, X., Bashir, A., Ye, K., Devine, S., Talkowski, M., Mills, R., Marschall, T., Korbel, J., Eichler, E., Lee, C.   +94 more
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Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome

Molecular Genetics & Genomic Medicine, 2023
Background Lynch syndrome is one of the most common cancer predisposition syndromes. It is caused by inherited changes in the mismatch repair pathway. With current diagnostic approaches, a causative genetic variant can be found in less than 50% of cases.
Dennis Witt, Ulrike Faust, Gertrud Strobl‐Wildemann, Marc Sturm, Rebecca Buchert, Theresia Zuleger, Jakob Admard, Nicolas Casadei, Stephan Ossowski, Tobias B. Haack, Olaf Rieß, Christopher Schroeder   +11 more
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Structural Variants May Be a Source of Missing Heritability in sALS

Frontiers in Neuroscience, 2020
The underlying genetic and molecular mechanisms that drive amyotrophic lateral sclerosis (ALS) remain poorly understood. Structural variants within the genome can play a significant role in neurodegenerative disease risk, such as the repeat expansion in ...
Frances Theunissen, Frances Theunissen, Loren L. Flynn, Loren L. Flynn, Loren L. Flynn, Ryan S. Anderton, Ryan S. Anderton, Ryan S. Anderton, Frank Mastaglia, Frank Mastaglia, Julia Pytte, Julia Pytte, Leanne Jiang, Leanne Jiang, Stuart Hodgetts, Stuart Hodgetts, Daniel K. Burns, Ann Saunders, Sue Fletcher, Sue Fletcher, Steve D. Wilton, Steve D. Wilton, Steve D. Wilton, Patrick Anthony Akkari, Patrick Anthony Akkari, Patrick Anthony Akkari   +25 more
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Genetic Control of Rod Bipolar Cell Number in the Mouse Retina

Frontiers in Neuroscience, 2018
Genetic variants modulate the numbers of various retinal cell types in mice. For instance, there is minimal variation in the number of rod bipolar cells (RBCs) in two inbred strains of mice (A/J and C57BL/6J), yet their F1 offspring contain significantly
Amanda G. Kautzman, Amanda G. Kautzman, Patrick W. Keeley, Patrick W. Keeley, Sarra Borhanian, Sarra Borhanian, Caroline R. Ackley, Caroline R. Ackley, Benjamin E. Reese, Benjamin E. Reese   +9 more
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svaRetro and svaNUMT: modular packages for annotating retrotransposed transcripts and nuclear integration of mitochondrial DNA in genome sequencing data

GigaByte, 2022
Nuclear integration of mitochondrial genomes and retrocopied transcript insertion are biologically important but often-overlooked aspects of structural variant (SV) annotation.
Ruining Dong , Daniel Cameron , Justin Bedo , Anthony T. Papenfuss   +3 more
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Structure-Based Understanding of ABCA3 Variants [PDF]

International Journal of Molecular Sciences, 2021
ABCA3 is a crucial protein of pulmonary surfactant biosynthesis, associated with recessive pulmonary disorders such as neonatal respiratory distress and interstitial lung disease. Mutations are mostly private, and accurate interpretation of variants is mandatory for genetic counseling and patient care.
Onnée, Marion, Fanen, Pascale, Callebaut, Isabelle, de Becdelièvre, Alix   +3 more
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