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GALT Protein Database, a Bioinformatics Resource for the Management and Analysis of Structural Features of a Galactosemia-related Protein and Its Mutants

Antonio d'Acierno, Angelo Facchiano, Anna Marabotti
2009 Genomics, Proteomics & Bioinformatics  
Besides a list of missense mutations at gene and protein sequence levels, GALT-Prot reports the analysis results of mutant GALT structures.  ...  In addition to the structural information about the wild-type enzyme, the database also includes structures of over 100 single point mutants simulated by means of a computational procedure, and the analysis  ...  Michele Festa for his involvement in the first phases of this project, and Dr. Andrew C.R. Martin for fruitful discussions during the first planning of the database.  ... 
doi:10.1016/s1672-0229(08)60035-2 pmid:19591794 pmcid:PMC5054220 fatcat:q7dh4ffpdvbu7bj7ixn4ypaiva

EMBnet.journal 18 Suppl. A

EMBnet Journal
2012 EMBnet journal  
Protein Structure and Function Acknowledgments This work was supported by NFSR of Bulgaria project DVU 01/197.  ...  Deficiency of GALT activity in humans caused by mutations in the GALT gene are associated to a rare genetic disease called Classic Galactosemia.  ...  Ausiello Department of Biology, University of Tor Vergata, Roma, Italy computational methods for structural and functional characterization of mutants of GALT enzyme A. Marabotti 1 , A.  ... 
doi:10.14806/ej.18.a.497 fatcat:2aexioifkfgfnipbo3btxqwvia

In SilicoPrediction of the Effects of Mutations in the Human Mevalonate Kinase Gene: Towards a Predictive Framework for Mevalonate Kinase Deficiency

Claire Browne, David J. Timson
2015 Annals of Human Genetics  
Hum.Mutat. 35, 1060-1067. 16 17 d'Acierno, A., Facchiano, A. & Marabotti, A. (2009) GALT protein database, a bioinformatics resource 18 for the management and analysis of structural features of a  ...  galactosemia-related protein and its 19 mutants.  ... 
doi:10.1111/ahg.12126 pmid:26420133 fatcat:3tlnwgcv7nfpnppx2qsjpityma

The genomic basis of the Streptococcus thermophilus health-promoting properties

Emeline Roux, Aurélie Nicolas, Florence Valence, Grégoire Siekaniec, Victoria Chuat, Jacques Nicolas, Yves Le Loir, Eric Guédon
2022 BMC Genomics  
A better knowledge of the health-promoting properties and their genomic and genetic diversity within the species may facilitate the selection and application of strains for specific biotechnological and  ...  Finally, the low occurrence in S. thermophilus genomes of genes coding for biogenic amine production and antibiotic resistance is also a contributing factor to its safety status.  ...  The Genouest bioinformatics platform (https:// www. genou est. org/) is acknowledged for the provision of computing resources.  ... 
doi:10.1186/s12864-022-08459-y pmid:35291951 pmcid:PMC8925076 fatcat:3xj22cjupjcglkwknp3favpy44

Abstracts from the 50th European Society of Human Genetics Conference: Electronic Posters

2018 European Journal of Human Genetics  
Lastly, the mutation may cause to physical defect on protein and native three dimensional structure.  ...  This significantly increased detection of chromosome anomalies, from 8,1 to 17%, after applying microarray analysis for prenatal testing with abnormal ultrasound supports the use of arrays as first tier  ...  We have filtered a set of unique variants in the EEC patient that affect a network of upstream regulators common with HCC.  ... 
doi:10.1038/s41431-018-0248-6 fatcat:t6rlgbruivelldklufqdlzqmtu

Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Oral Presentations

2019 European Journal of Human Genetics  
Introduction: Analysis and interpretation of genomes (and exomes) are major challenges requiring bioinformatics and professional resources in limited supply.  ...  However, it remains unclear how structure relates to function and here we aim at studying this by assembling a dataset combining the activity of regulatory elements (ChIP-seq for H3K4me1, H3K4me3 and H3K27ac  ...  We ascertained a 6-year-old girl, with skeletal dysplasia resembling CHH. Analysis of parents-child trio exomes and effect of the variant on protein structure and stability were performed.  ... 
doi:10.1038/s41431-019-0492-4 fatcat:wuudroxpgfe6vfpv2ddzyr7vhi

SIENNA D2.1: State of the art review of human genomic technologies

Heidi Howard, Emilia Niemiec, Alexandra Soulier
2019 Zenodo  
It firstly provides a brief description and history of the field indicating the shift from relatively small to large scale analyses of DNA (i.e. genetics to genomics).  ...  Subsequently, the field of genomic technologies is further defined and demarcated, including its central concepts (such as DNA, genes, genome, sequencing) as well as a description of current and emerging  ...  The authors then managed this feedback and decided on the changes to be made. The reviewers did not then revise the changes made.  ... 
doi:10.5281/zenodo.4067911 fatcat:oggl5b6oxbc2lptgprdttijkxq

Gramene (rice and other grasses database) [chapter]

2008 Encyclopedia of Genetics, Genomics, Proteomics and Informatics  
Its mammalian homologue is TLE1 and it is structurally and functionally related to Tup1 of yeast.  ...  It uses global genomic information in connection clinical data to assess individual risks and multidimensional analysis for efficient management of disease.  ...  Although the information for folding resides in the primary structure of proteins, the GroEL-GroES complex facilitates the realization of this potential.  ... 
doi:10.1007/978-1-4020-6754-9_7111 fatcat:dsqojxeco5gwhgpgdcm22jb33y

Gout [chapter]

2008 Encyclopedia of Genetics, Genomics, Proteomics and Informatics  
Its mammalian homologue is TLE1 and it is structurally and functionally related to Tup1 of yeast.  ...  It uses global genomic information in connection clinical data to assess individual risks and multidimensional analysis for efficient management of disease.  ...  Although the information for folding resides in the primary structure of proteins, the GroEL-GroES complex facilitates the realization of this potential.  ... 
doi:10.1007/978-1-4020-6754-9_7078 fatcat:igkfa5bydfeehhe7ekrw5dudny

ISNS 9th International Symposium, The Hague, The Netherlands, September 11–14, 2016

Gerard Loeber
2016 International Journal of Neonatal Screening  
Using these five topics as a template, a structured analysis was conducted on NBS in policy documents of eight countries.  ...  The extract is injected in a triple quadripole instrument in a flow injection analysis mode (using a UPLC sample manager).  ... 
doi:10.3390/ijns2030005 fatcat:7ad7pzbvjjgufo7zawl2ifcuve

2021 Southern Medical Research Conference

2021 Journal of Investigative Medicine  
Case Report A 72-year-old male with hypertension and coronary artery disease presented with a few hour history of acute aphasia and generalized weakness and a one week history of cough and myalgia.  ...  On admission he had a fever of 100.9F with normal oxygen saturation, clear chest x-ray, and PCR positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).  ...  STRING database was used for protein networks and reactome pathways analysis. Some of the changes in reactome pathways were also verified by Western blotting.  ... 
doi:10.1136/jim-2021-srmc fatcat:pmthjrwwx5ftvnuwwkxsciroke

Screening Pathways through China, the Asia Pacific Region, the World

Wiley, Webster, Loeber, on behalf of ISNS two thousand nineteen, Local Organising Committee
2019 International Journal of Neonatal Screening  
The International Society for Neonatal Screening (ISNS) has met regularly at both international meetings and those of the various chapters[...]  ...  mutation p.Pro715Pro.Homology modelling-based analysis of predicted structures of MPO-like domain (TPO142-738) and the full-length TPO protein (TPO1-933) revealed differences between mutant and wild type  ...  The SLC22A5 genes of all individuals were analyzed by direct DNA sequencing and the sequences compared with are reference database and bioinformatics analysis.  ... 
doi:10.3390/ijns5030026 pmid:33072985 pmcid:PMC7510188 fatcat:3y6yescmijgatfyypjxzpeosma

Improving Decision Support for Uncertain Gene Varients

David K. Crockett
2014
All Rights Reserved T h e U n i v e r s i t y o f U t a h G r a d u a t e S c h o o l STATEMENT OF DISSERTATION APPROVAL The dissertation of David K.  ...  PSAAP and Consensus were also used to evaluate known variants of uncertain significance in the RET protooncogene as a model gene.  ...  Man (OMIM) database. [28] Since the algorithm relies on predicted structural disruption, it works especially well where protein structure is known and less reliable when a solved protein structure is  ... 
doi:10.26053/0h-kg16-ggg0 fatcat:jdabukluhrblvjpli7hgzfmzne

Identifying the genetic causes of paediatric cataract in Australian families

JL Jones
2020
This aim was achieved through three complementary studies: a gene screen of known isolated paediatric cataract genes; novel gene discovery using a combination of linkage analysis and massively parallel  ...  Cataracts are a clouding of the normally transparent lens of the eye.  ...  a manageable number of variants for further segregation analysis via Sanger sequencing.  ... 
doi:10.25959/100.00035055 fatcat:betdboijwnb65grtzrhalzfigy