RAPID: Resource of Asian Primary Immunodeficiency Diseases
Shivakumar Keerthikumar,Rajesh Raju,Kumaran Kandasamy,Kumaran Kandasamy,Atsushi Hijikata,Subhashri Ramabadran,Lavanya Balakrishnan,Mukhtar Ahmed,Sandhya G. Rani,Lakshmi Dhevi N. Selvan,Devi S. Somanathan,Somak Ray,Mitali Bhattacharjee,Sashikanth Gollapudi,Y. L. Ramachandra,Sahely Bhadra,Chiranjib Bhattacharyya,Kohsuke Imai,Shigeaki Nonoyama,Hirokazu Kanegane,Toshio Miyawaki,Akhilesh Pandey,Osamu Ohara,Subburaman Mohan +23 more
TLDR
The main objective of this database is to provide detailed information pertaining to genes and proteins involved in primary immunodeficiency diseases along with other relevant information about protein–protein interactions, mouse studies and microarray gene-expression profiles in various organs and cells of the immune system.Abstract:
Availability of a freely accessible, dynamic and integrated database for primary immunodeficiency diseases (PID) is important both for researchers as well as clinicians. To build a PID informational platform and also as a part of action to initiate a network of PID research in Asia, we have constructed a web-based compendium of molecular alterations in PID, named Resource of Asian Primary Immunodeficiency Diseases ( RAPID), which is available as a worldwide web resource at http://rapid.rcai.riken.jp/. It hosts information on sequence variations and expression at the mRNA and protein levels of all genes reported to be involved in PID patients. The main objective of this database is to provide detailed information pertaining to genes and proteins involved in primary immunodeficiency diseases along with other relevant information about protein-protein interactions, mouse studies and microarray gene-expression profiles in various organs and cells of the immune system. RAPID also hosts a tool, mutation viewer, to predict deleterious and novel mutations and also to obtain mutation-based 3D structures for PID genes. Thus, information contained in this database should help physicians and other biomedical investigators to further investigate the role of these molecules in PID.read more
Citations
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Book ChapterDOI
Human Protein Reference Database and Human Proteinpedia as discovery tools for systems biology.
TL;DR: Human Proteinpedia was developed as a portal for community participation to annotate and share proteomic data using HPRD as the scaffold and allows proteomic investigators to even share unpublished data and provides an effective medium for data sharing.
Journal ArticleDOI
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Asbjørg Stray-Pedersen,Paul Hoff Backe,Paul Hoff Backe,Hanne Sørmo Sorte,Lars Mørkrid,Lars Mørkrid,Niti Y. Chokshi,Hans Christian Erichsen,Tomasz Gambin,Katja Benedikte Prestø Elgstøen,Magnar Bjørås,Magnar Bjørås,Marcin W. Wlodarski,Marcus Krüger,Shalini N. Jhangiani,Donna M. Muzny,Ankita Patel,Kimiyo Raymond,Ghadir S. Sasa,Ghadir S. Sasa,Robert A. Krance,Robert A. Krance,Caridad Martinez,Caridad Martinez,Shirley M. Abraham,Carsten Speckmann,Stephan Ehl,Patricia L. Hall,Lisa R. Forbes,Lisa R. Forbes,Else Merckoll,Jostein Westvik,Gen Nishimura,Cecilie F. Rustad,Tore G. Abrahamsen,Tore G. Abrahamsen,Arild Rønnestad,Liv T. N. Osnes,Torstein Egeland,Torstein Egeland,Olaug K. Rødningen,Christine R. Beck,Eric Boerwinkle,Eric Boerwinkle,Richard A. Gibbs,James R. Lupski,Jordan S. Orange,Jordan S. Orange,Ekkehart Lausch,I. Celine Hanson +49 more
TL;DR: PGM3-CDG is defined as a treatable immunodeficiency, the power of whole-exome sequencing in gene discoveries for rare disorders is documented, and the utility of genomic analyses in studying combined and variable phenotypes is illustrated.
Journal ArticleDOI
The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008-2012
JD Edgar,Matthew Buckland,David Guzman,Niall Conlon,Viviane Knerr,C. Bangs,Veronika Reiser,Z. Panahloo,Sarita Workman,Mary Slatter,Andrew R. Gennery,EG Davies,Z. Allwood,Peter D. Arkwright,Matthew Helbert,Hilary Longhurst,Sofia Grigoriadou,Lisa Devlin,Aarnoud Huissoon,M T Krishna,Scott Hackett,Dinakantha S. Kumararatne,Alison M. Condliffe,Helen Baxendale,Katherine Henderson,Claire Bethune,Christine Symons,P. Wood,K. Ford,Smita Y. Patel,Rashmi Jain,Stephen Jolles,Tariq El-Shanawany,H. Alachkar,A Herwadkar,Ravishankar Sargur,Anna Shrimpton,Grant Hayman,M. Abuzakouk,Gavin P. Spickett,C. J. Darroch,Stéphane Paulus,S. E. Marshall,E. McDermott,Paul T. Heath,Richard Herriot,Sadia Noorani,Marc Turner,Sujoy Khan,Bodo Grimbacher +49 more
TL;DR: Data is presented on the range of diagnoses recorded, estimated minimum disease prevalence, geographical distribution of patients across the United Kingdom, age at presentation, diagnostic delay, treatment modalities used and evidence of their monitoring and effectiveness.
Journal ArticleDOI
Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy
Asbjørg Stray-Pedersen,Emmanuelle Jouanguy,Emmanuelle Jouanguy,Amandine Crequer,Amandine Crequer,Alison A. Bertuch,Alison A. Bertuch,Betty S. Brown,Betty S. Brown,Shalini N. Jhangiani,Donna M. Muzny,Tomasz Gambin,Hanne Sørmo Sorte,Hanne Sørmo Sorte,Ghadir S. Sasa,Ghadir S. Sasa,Denise W. Metry,Denise W. Metry,Judith R. Campbell,Judith R. Campbell,Marianna Sockrider,Marianna Sockrider,Megan K. Dishop,Megan K. Dishop,David M. Scollard,Richard A. Gibbs,Emily M. Mace,Emily M. Mace,Jordan S. Orange,James R. Lupski,Jean-Laurent Casanova,Jean-Laurent Casanova,Lenora M. Noroski,Lenora M. Noroski +33 more
TL;DR: A 10-year analysis of the immune-clinical phenotypes in two affected siblings from disease debut of age 7 years reveals the third CORO1A-mutated kindred, with the immune phenotype of abnormal naïve CD4 and DN T-cells and newfound characteristics of a late/hypomorphic-like SCID of an EV-HPV mucocutaneous syndrome.
Journal ArticleDOI
Human protein reference database and human proteinpedia as discovery resources for molecular biotechnology.
TL;DR: As proteomic information reflects a direct view of cellular systems, proteomics is expected to complement other areas of biology such as genomics, transcriptomics, molecular biology, cloning, and classical genetics in understanding the relationships among multiple facets of biological systems.
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