{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Coppola G"],"funding":["Intramural NIH HHS","NIA NIH HHS"],"pagination":["92-6"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2773201"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["64(1)"],"pubmed_abstract":["Peripheral blood is a readily available tissue source allowing relatively noninvasive screening for a host of medical conditions. We screened total-blood progranulin (PGRN) levels in 107 patients with neurodegenerative dementias and related conditions, and 36 control subjects, and report the following findings: (1) confirmation of high progranulin expression levels in peripheral blood; (2) two subjects with reduced progranulin levels and mutations in the PGRN gene confirmed by direct sequencing; and (3) greater PGRN messenger RNA levels in patients with clinical diagnosis of Alzheimer's disease. This proof-of-principle report supports the use of gene quantification as diagnostic screen for PGRN mutations and suggests a potential role for progranulin in Alzheimer's disease."],"journal":["Annals of neurology"],"pubmed_title":["Gene expression study on peripheral blood identifies progranulin mutations."],"pmcid":["PMC2773201"],"funding_grant_id":["P50 AG-0235","R01 AG026251","U01 AG016976","P01 AG019724","P01 AG019724-079004","P01 AG017216","R01 AG26938-01","U24 AG021886","Z01 AG000235","R01 AG026938","P50 AG016574","P50 AG16574","P01 AG019724-02","P01 AG019724-069004"],"pubmed_authors":["Miller BL","Baker M","Karydas A","Wang Q","Rademakers R","Coppola G","Geschwind DH","Hutton M"],"additional_accession":[]},"is_claimable":false,"name":"Gene expression study on peripheral blood identifies progranulin mutations.","description":"Peripheral blood is a readily available tissue source allowing relatively noninvasive screening for a host of medical conditions. We screened total-blood progranulin (PGRN) levels in 107 patients with neurodegenerative dementias and related conditions, and 36 control subjects, and report the following findings: (1) confirmation of high progranulin expression levels in peripheral blood; (2) two subjects with reduced progranulin levels and mutations in the PGRN gene confirmed by direct sequencing; and (3) greater PGRN messenger RNA levels in patients with clinical diagnosis of Alzheimer's disease. This proof-of-principle report supports the use of gene quantification as diagnostic screen for PGRN mutations and suggests a potential role for progranulin in Alzheimer's disease.","dates":{"release":"2008-01-01T00:00:00Z","publication":"2008 Jul","modification":"2024-11-19T23:49:08.995Z","creation":"2019-03-27T00:26:23Z"},"accession":"S-EPMC2773201","cross_references":{"pubmed":["18551524"],"doi":["10.1002/ana.21397"]}}