Results 71 to 80 of about 4,271,392 (311)

Structural genomic variants in thoracic aortic disease [PDF]

, 2023
: Purpose of review: Structural genomic variants have emerged as a relevant cause for several disorders, including intellectual disability, neuropsychiatric disorders, cancer and congenital heart disease.
Loeys, B.L., Meester, J.A., Hebert, Anne, Meester, Josephina, Hebert, A., Loeys, Bart   +5 more
core  

A Multi-Approach for In Silico Detection of Chromosome Inversions in Mosquito Vectors

Microorganisms
In Brazil, Nyssorhynchus darlingi stands out as the primary malaria vector. Chromosome inversions have long been recognized as critical evolutionary mechanisms in diverse organisms.
Marcus Vinicius Niz Alvarez, Filipe Trindade Bozoni, Diego Peres Alonso, Paulo Eduardo Martins Ribolla   +3 more
doaj   +1 more source

Design and analysis strategies for robust microbiome ageing research

FEBS Letters, EarlyView.
The gut microbiome changes with age and associates with age‐related morbidity and mortality, establishing it as a potential biomarker and intervention target for ageing. Realising this potential requires methodological rigour, yet distinguishing biological signals from methodological artefacts remains challenging across cohorts. This review provides an
Mark Olenik, İsmail Güderer, Yi Wang, Tayyaba Alvi, Prasoon Pandey, Handan Melike Dönertaş   +5 more
wiley   +1 more source

CHD2 variants are a risk factor for photosensitivity in epilepsy. [PDF]

, 2015
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2
Cantonetti, L., Muhle, H., Thiele, H., Lench, N, Krishna Chinthapalli, V, Krause, R, Sadleir, L. G., Gaudio, L.D., Moller, R. S., EURO Epinomics CoGIE Consortium, Afrikanova, T, Jocic-Jakubi, B., Capovilla, G., Myers, C., Myers, C. T., Sadleir, LG, Muhle, H, Nürnberg, P, Helbig, I., Parisi, P., EuroEPINOMICS CoGIE Consortium,, Pendziwiat, M., Stephani, U., Coppola, A., Kasteleijn-Nolst Trenité, D.G.A., Myers, CT, Chinthapalli, V. K., Krishna Chinthapalli, V., Stephani, U, Del Gaudio, L., de Kovel, C.G.F., Scheffer, I.E., De Kovel, CGF, Chinthapalli, VK, Veggiotti, P., Lehesjoki, AE, Jacmin, M., Drury, S., Piccioli, M., Berkovic, S. F., Esguerra, C., Trenite, D., Martins, T.G., Chinthapalli, V., Thiele, H, Kasteleijn-Nolst Trenité, DG, Lehesjoki, A., Crawford, A., Boustred, C., Lerche, H, Moller, R., Galizia, E. C., Ruppert, A. -K., Helbig, I, Schubert, J, Schneider, A. L., Mefford, H.C., Crawford, AD, Schubert, J., Schneider, A.L., Veggotti, P, Esguerra, CV, Striano, S., Ruppert, A., Berkovic, S., Galizia, EC, Cordero-Maldonado, M., Leu, C., Mefford, H. C., Martins, T. G., Palotie, A, Crawford, A. D., Ruppert, A.K., Covanis, A., Sisodiya, S., Ruppert, AK, Cordero-Maldonado, M. L., Møller, RS, Esguerra, C. V., Trenité, D. G. A. K. -N., Schneider, A., Coppola, A, Cantonetti, L, Leu, C, Del Gaudio, L, Cordero-Maldonado, ML, De Kovel, C. G. F., Berkovic, SF, Mullen, S. A., Trenité, DGAKN, Martins, T., Koeleman, BPC, Jacmin, M, Covanis, A, Boustred, C, Moller, RS, Martins, TG, Sisodiya, SM, Koeleman, B., Sander, T, Mullen, S.A., Sander, T., Nürnberg, P., Lehesjoki, A.E., Berkovic, S.F, Sisodiya, S.M., Mullen, SA, Cordero-Maldonado, M.L., Sadleir, L.G., Palotie, A., Pendziwiat, M, Parisi, P, Capovilla, G, Scheffer, I., Koeleman, BP, Gaudio, LD, Lerche, H., Mullen, S., Veggiotti, P, Myers, C.T., Scheffer, I. E., Koeleman, B. P. C., De Kovel, C., Piccioli, M, Esguerra, C.V., Sisodiya, S. M., Lehesjoki, A. -E., Afrikanova, T., de Kovel, CG, Mefford, HC, Koeleman, B.P.C., Drury, S, Scheffer, IE, Galizia, E.C., Schneider, AL, Mefford, H., Møller, R.S., Krause, R., Galizia, E., Crawford, A.D., Striano, S, Jocic-Jakubi, B, Lench, N., Sadleir, L.   +143 more
core   +1 more source

Reconstructing enzyme evolution by protein engineering

FEBS Letters, EarlyView.
Natural enzyme evolution can be retraced by protein engineering methods such as directed evolution, rational design, and ancestral sequence reconstruction. These approaches reveal how enzymes emerged from ligand‐binding scaffolds, developed varying substrate preferences, formed oligomeric complexes, adapted to environmental changes, and evolved novel ...
Lukas Drexler, Markus R. Busch, Reinhard Sterner   +2 more
wiley   +1 more source

Brain structural alterations, genetic risk variants and the onset of psychosis [PDF]

, 2015
One of the central motivations behind research of the at-risk mental state is to prevent or delay potential transition to psychosis and further progression to schizophrenia, by studying the early signs and symptoms without potential confounding effects ...
Harrisberger, Fabienne
core   +1 more source

SVNeoPP: A Workflow for Structural-Variant-Derived Neoantigen Prediction and Prioritization Using Multi-Omics Data

Biology
Background: Tumor neoantigens are key targets for personalized vaccines and T-cell therapies, yet most pipelines focus on neoantigens derived from SNV/small indel and often yield a limited number of high-quality candidates.
Wanyang An, Xiaoxiu Tan, Zhenhao Liu, Li Zou, Manman Lu, Lu Xie   +5 more
doaj   +1 more source

Conserved binding mode but diverse interfaces of MreC‐PBP2 interactions

FEBS Letters, EarlyView.
The crystal structure of abMreC reveals a conserved two β‐barrel architecture and provides structural insights into its role within the bacterial elongasome. The abMreC–abPBP2 complex model identifies the molecular basis of MreC‐mediated PBP2 recognition, contributing to the regulation of peptidoglycan synthesis.
Hyunseok Jang, Hyo Been Jin, Chang Min Kim, So Yeon Lee, Hyun Ho Park   +4 more
wiley   +1 more source

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia [PDF]

, 2017
The von Willebrand receptor complex, which is composed of the glycoproteins Ibα, Ibβ, GPV, and GPIX, plays an essential role in the earliest steps in hemostasis. During the last 4 decades, it has become apparent that loss of function of any 1 of 3 of the
Perry, David J., Astle, William J., Tait, R. Campbell, Nurden, Paquita, Mumford, Andrew D., Ouwehand, Willem H, BioResource, Nihr, Lentaigne, Claire, Laffan, Michael A., Kunishima, Shinji, Papadia, Sofia, Tait, R Campbell, Kelly, Anne M., Kelly, Anne M, Peerlinck, Kathelijne, Hart, Daniel P, Stirrups, Kathleen, Stephens, Jonathan C, Stephens, Jonathan C., Huizinga, Eric G, Penkett, Christopher J, Sivapalaratnam, Suthesh, Turro, Ernest, Hart, Daniel P., Greene, Daniel, Westbury, Sarah K, Laffan, Michael A, Crystal and Structural Chemistry, Stirrups, Kathleen E, Penkett, Christopher J., Simeoni, Ilenia, Downes, Kate, Mumford, Andrew D, Astle, William J, Roughley, Catherine, Huizinga, Eric G., Sub Crystal and Structural Chemistry, ?, ?, Westbury, Sarah K., Perry, David J, Freson, Kathleen, Ouwehand, Willem H.   +41 more
core   +2 more sources

OXFORD NANOPORE ADAPTIVE SAMPLING: MECHANISMS, COMPARATIVE EFFICACY, AND CLINICAL IMPLICATIONS OF SOFTWARE-DIRECTED TARGETED SEQUENCING

Journal of Bioinformatics and Genomics
Adaptive Sampling (AS) is a software-directed enrichment strategy unique to Oxford Nanopore Technologies (ONT) that enables real-time target selection by dynamically reversing nanopore voltage to eject non-target molecules.
Budhyanto V., Jurgens S., Silalahi D., Cicilia C.O.   +3 more
doaj   +1 more source