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Design and Implementation of a Geis for the Genomic Diagnosis using the SILE Methodology. Case Study: Congenital Cataract

Manuel Navarrete-Hidalgo, José Fabián Reyes Román, Óscar Pastor López
2018 Proceedings of the 13th International Conference on Evaluation of Novel Approaches to Software Engineering  
This work defines a GeIS for the preventive diagnosis of "congenital cataracts", whose condition is not related to age and lifestyle, but to the genetic component of each person.  ...  However, the information that the humans contain within the genome represents a great challenge related to the processing and management of their biological information, whose success will depend directly  ...  ACKNOWLEDGEMENTS The authors would like to thank the members of the PROS Research Centre Genome group for the fruitful discussions regarding the application of CM in the medicine field.  ... 
doi:10.5220/0006705802670274 dblp:conf/enase/Navarrete-Hidalgo18 fatcat:t66gj2go2ng5zfl5kdpg7wyaxi

Investigating the Effects of Amino Acid Variations in Human Menin

Carmen Biancaniello, Antonia D'Argenio, Deborah Giordano, Serena Dotolo, Bernardina Scafuri, Anna Marabotti, Antonio d'Acierno, Roberto Tagliaferri, Angelo Facchiano
2022 Molecules  
The structural analyses are freely accessible online by means of a web interface that integrates also a 3D visualization of the structure of the wild-type and variant proteins.  ...  , predicting the amino acid variations that change secondary structure, solvent accessibility, salt-bridge and H-bond interactions, protein thermostability, and altering the capability to bind known protein  ...  Conflicts of Interest: The authors declare no conflict of interest.  ... 
doi:10.3390/molecules27051747 pmid:35268848 pmcid:PMC8911756 fatcat:2wj2xo3afrezdp4nfato64gzou

Reliability of Neonatal Screening Results

Maria Knapkova, Kate Hall, Gerard Loeber
2018 International Journal of Neonatal Screening  
Collaborative Laboratory Integrated Reports (CLIR 2.09; https://clir.mayo.edu) is a second-generation web application that maintains an interactive database of laboratory results from multiple sites.  ...  cut-off values to other programs or databases.  ... 
doi:10.3390/ijns4030028 pmid:33072949 pmcid:PMC7510242 fatcat:pcbh2jowovdmnerbpddhjpcb5i

Planning the Human Variome Project: The Spain report

Jim Kaput, Richard G.H. Cotton, Lauren Hardman, Michael Watson, Aida I. Al Aqeel, Jumana Y. Al-Aama, Fahd Al-Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge T. Bernstein (+90 others)
2009 Human Mutation  
specific databases (LSDB).  ...  A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome.  ...  ., 2007) , mostly web accessible.  ... 
doi:10.1002/humu.20972 pmid:19306394 pmcid:PMC5879779 fatcat:b4zgokrx2rddpi6uw35owbjvme

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.  ...  From the web site interface, scientists can dynamically access a number to different repositories where public data about protein domain composition, aminoacidic sequence, 3D structure, protein-protein  ...  In particular, the accession codes are linked to the other important databases like Uniprot, Protein Databank, Entrez gene.  ... 
doi:10.14806/ej.18.a.497 fatcat:2aexioifkfgfnipbo3btxqwvia

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

Gerard Loeber
2016 International Journal of Neonatal Screening  
To increase the availability and accessibility of newborn screening for congenital hypothyroidism and overcome the limitations of conventional DBS screening approaches, we have developed a point-of-care  ...  Zhejiang Province screening center database.  ... 
doi:10.3390/ijns2030005 fatcat:7ad7pzbvjjgufo7zawl2ifcuve

Gut Microbiota Dysbiosis Is Associated with Altered Bile Acid Metabolism in Infantile Cholestasis

Yizhong Wang, Xuefeng Gao, Xinyue Zhang, Yongmei Xiao, Jiandong Huang, Dongbao Yu, Xiaolu Li, Hui Hu, Ting Ge, Dan Li, Ting Zhang, Pieter C. Dorrestein
2019 mSystems  
The reduced concentration of fecal BAs in infantile CJ was associated with the overgrowth of gut bacteria with a pathogenic potential and the depletion of those with a potential benefit.  ...  An increased ratio of deoxycholic acid (DCA)/CA was observed in a proportion of infants with CJ.  ...  Taxonomic assignment was performed by using the Ribosomal Database Project (RDP) classifier. Statistical analysis was performed with the Calypso web server (39) .  ... 
doi:10.1128/msystems.00463-19 pmid:31848302 pmcid:PMC6918028 fatcat:43mnbi6t2ncynkzdzw7trfn5bu

PANTHER: A Library of Protein Families and Subfamilies Indexed by Function

P. D. Thomas
2003 Genome Research  
The publication costs of this article were defrayed in part by payment of page charges.  ...  Profile methods combine algorithms with databases: A group of related sequences is used to build a statistical representation of corresponding positions in the related proteins.  ...  Not surprisingly, then, F294Y is associated with galactosemia.  ... 
doi:10.1101/gr.772403 pmid:12952881 pmcid:PMC403709 fatcat:i6ykril2xja4pdgtfzj6iybxnm

Abstracts for the 34th HGSA Annual Scientific Meeting, Melbourne, Australia November 16-18, 2010

2010 Twin Research and Human Genetics  
Introduction: The congenital disorders of protein glycosylation are a family of enzyme defects in assembly (Type I), transfer, and remodeling (Type II) of glycan structures to proteins.  ...  Technologies developed in the research laboratory, especially those for analysis of many genes at a time, are being adapted to the clinical laboratory setting, and bringing with them issues related to  ...  Many internet-accessible relational databases with details of genetic variants within disease-associated genes are now available.  ... 
doi:10.1375/twin.13.6.620 fatcat:waz3wo2snrgdjigvmen5y2qtaq

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.  ...  A total of 118 prenatal samples from patients with abnormal ultrasound were selected, 58 of then were chorionic villus sampling (CVS) and 60 amniocentesis. karyotype and array CGH was performed in all  ...  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 for the 36th Human Genetics Society of Australasia Annual Scientific Meeting Canberra, Australia, July 22–25, 2012

2012 Twin Research and Human Genetics  
Subjects: Adults with PKU diagnosed either via newborn screening (NBS) or late, following a restricted protein diet and taking a phenylalanine free supplement, seen at the Royal Adelaide Hospital metabolic  ...  The characteristics of the diet for PKU means investigating obese related metabolic complications in this group may be of interest.  ...  Conclusion: A mutation was identified in 56% of HCM probands who accessed genetic testing.  ... 
doi:10.1017/thg.2012.45 fatcat:b5uafccw35daxhuzpmhomgyxma

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[...]  ...  Huge number of people needed hospitalization and blood transfusion, with their condition to access to limited health facilities and related resources of blood bank.  ...  Screening positive children are recalled for diagnosis through a web platform covered Wuhan.  ... 
doi:10.3390/ijns5030026 pmid:33072985 pmcid:PMC7510188 fatcat:3y6yescmijgatfyypjxzpeosma

Gramene (rice and other grasses database) [chapter]

2008 Encyclopedia of Genetics, Genomics, Proteomics and Informatics  
G b : ▶G αβγ G-BASE: Genomic database of mouse, for access see Mouse Genome Database, Encyclopedia of the Mouse Genome.  ...  The genetic and ethical problems relevant to inheritable genetic modification of humans can be accessed on the WEB: http://www.aaas.org/spp/sfrl/ projects/germline/report.pdf .  ...  The mammalian Grp94 (member of the Hsp90 family of proteins) chaperones are a small number of proteins and are suspected to be involved in antigen presentation and tumor rejection.  ... 
doi:10.1007/978-1-4020-6754-9_7111 fatcat:dsqojxeco5gwhgpgdcm22jb33y

Gout [chapter]

2008 Encyclopedia of Genetics, Genomics, Proteomics and Informatics  
G b : ▶G αβγ G-BASE: Genomic database of mouse, for access see Mouse Genome Database, Encyclopedia of the Mouse Genome.  ...  The genetic and ethical problems relevant to inheritable genetic modification of humans can be accessed on the WEB: http://www.aaas.org/spp/sfrl/ projects/germline/report.pdf .  ...  The mammalian Grp94 (member of the Hsp90 family of proteins) chaperones are a small number of proteins and are suspected to be involved in antigen presentation and tumor rejection.  ... 
doi:10.1007/978-1-4020-6754-9_7078 fatcat:igkfa5bydfeehhe7ekrw5dudny

Disorders of phenylalanine and tyrosine metabolism

Hind Alsharhan, Can Ficicioglu
2020 Translational Science of Rare Diseases  
U n c o r r e c t e d A u t h o r P r o o f Translational Science of Rare Diseases xx (20xx) x-xx  ...  (Figure 14 in the first book). variants have been reported in the HGD gene [HGD mutation database] [217].  ...  Following the sta-873 bilization of the patient, a low intact dietary protein that is age-appropriate must be initiated.  ... 
doi:10.3233/trd-200049 fatcat:jytndcmh5jcizntnu3xwhihtga
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