Since 1998, the FSH Society has transformed FSHD research

Research

Bioinformatics, Online Resources and Information about FSHD


 

PubMed
To access PubMed, click HERE

Access to All Papers on FSHD, facioscapulohumeral, D4Z4 and Landouzy-Dejerine
To run a PubMed query and search for FSHD and related terms, click HERE

UCSC Genome Bioinformatics Site
UCSC Genome Browser website. This site contains the reference sequence and working draft assemblies for a large collection of genomes. It also provides a portal to the ENCODE project. To access the UCSC Genome site, click HERE

Entrez cross database search
To access Entrez for all databases, click HERE

GEO Profiles
To access FSHD individual gene expression and molecular abundance profiles assembled from the Gene Expression Omnibus (GEO) repository. Search for specific profiles of interest based on gene annotation or pre-computed profile characteristics. Enter search term "FSHD" to locate profiles of interest. Access GEO profiles, click HERE

GEO DataSets
To access FSHD gene expression and molecular abundance DataSets assembled from the Gene Expression Omnibus (GEO) repository. Enter search term "FSHD" to locate experiments of interest. Access GEO datasets, click HERE

University Of California, Irvine FSHD Data
1) Affymetrix GeneChip Data
Winokur ST, Chen Y-W, Masny P, Martin JH, Ehmsen JE, Tapscott SJ, van der Maarel SM, Hayashi Y, and Flanigan KM (2003) Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet. 12(22):2895-907

Winokur et al. Hum Mol Genet. 2003 Nov 15;12(22):2895-907
PubMed, click HERE
Supplemental Data, click HERE

Winokur ST, Barrett K, Martin JH, Forrester JR, Simon M, Tawil R, Chung S-A, Masny PS and Figlewicz DA (2003) Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscular Disorders 13(4):322-33

Winokur et al. Neuromuscul Disord. 2003 May;13(4):322-33
PubMed, click HERE
Supplemental Data, click HERE

2) Custom cDNA Microarray Data
Winokur ST, Chen Y-W, Masny P, Martin JH, Ehmsen JE, Tapscott SJ, van der Maarel SM, Hayashi Y, and Flanigan KM (2003) Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet. 12(22):2895-907

Winokur et al. Hum Mol Genet. 2003 Nov 15;12(22):2895-907
PubMed, click HERE
Supplemental Data, click HERE

Children's National Medical Center, Washington DC FSHD Data
PEPR Portal

The Public Expression Profiling Resource (PEPR) is a Research Center for Genetic Medicine, Children's National Medical Center, Washington DC experiment in web-database access to large multi-dimensional data sets using a standardized experimental platform. The primary goal of PEPR is to determine if the larger scientific community can be given simple, intuitive, and user-friendly web-based access to large microarray data sets. Note that all data in PEPR is also available via NCBI GEO.

The structure and goals of PEPR differ from other mRNA expression profiling databases in a number of important ways.

The experimental platform in PEPR is standardized, and is an Affymetrix -only database . All microarrays available in the PEPR web database should ascribe to quality control and standard operating procedures. A recent publication has described the QC/SOP criteria utilized in PEPR profiles ( The Tumor Analysis Best Practices Working Group 2004 ).

PEPR permits gene-based queries of large Affymetrix array data sets without any specialized software. For example, a number of large time series projects are available within PEPR, containing 40-60 microarrays, yet these can be simply queried via a dynamic web interface with no prior knowledge of microarray data analysis.

Projects in PEPR originate from scientists world-wide, but all data has been generated by the Research Center for Genetic Medicine, Children's National Medical Center, Washington DC .

PEPR Portal, to enter please click HERE

PEPR Portal Search enter Project and, enter search keyword FSHD, to access please click HERE:

PEPR Portal FSHD CNMC Affymetrix Array Data, Comparative profiling in 13 muscle disease groups please click HERE


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