Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Disease related variation"'
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 167, p 167 (2022)
International Journal of Molecular Sciences; Volume 23; Issue 1; Pages: 167
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 23; Issue 1; Pages: 167
International Journal of Molecular Sciences
MTHFR deficiency still deserves an investigation to associate the phenotype to protein structure variations. To this aim, considering the MTHFR wild type protein structure, with a catalytic and a regulatory domain and taking advantage of state-of-the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a387455535e21b688b2c0c6749dd55d
https://www.mdpi.com/1422-0067/23/1/167
https://www.mdpi.com/1422-0067/23/1/167
Publikováno v:
Frontiers in Molecular Biosciences
Frontiers in Molecular Biosciences, Vol 8 (2021)
Frontiers in Molecular Biosciences, Vol 8 (2021)
Human genome resequencing projects provide an unprecedented amount of data about single-nucleotide variations occurring in protein-coding regions and often leading to observable changes in the covalent structure of gene products. For many of these va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8867225eae2f7cc2f0b50311cae724
https://doi.org/10.3389/fmolb.2021.617016
https://doi.org/10.3389/fmolb.2021.617016
SNPs&GO is a machine learning method for predicting the association of single amino acid variations (SAVs) to disease, considering protein functional annotation. The method is a binary classifier that implements a Support Vector Machine algorithm to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d346069b7456c0c98fbe6d289d3f71d
http://hdl.handle.net/11585/579986
http://hdl.handle.net/11585/579986
Autor:
Castrense Savojardo, Pier Luigi Martelli, Giulia Babbi, Piero Fariselli, Francesco Aggazio, Rita Casadio
Publikováno v:
BMC Genomics
none 6 no Background: Modern genomic techniques allow to associate several Mendelian human diseases to single residue variations in different proteins. Molecular mechanisms explaining the relationship among genotype and phenotype are still under deba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b81e4a9305351eb6c1a0f26f41ecd5e
http://hdl.handle.net/2318/1687509
http://hdl.handle.net/2318/1687509
Single residue mutations in proteins are known to affect protein stability and function. As a consequence, they can be disease associated. Available computational methods starting from protein sequence/structure can predict whether a mutated residue
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60a659d31dc147502606283b0917488f
http://hdl.handle.net/2318/1687524
http://hdl.handle.net/2318/1687524
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