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Validated All-in-One™ qPCR Primer for GRN(NM_002087.3) Search again
Product ID:
HQP008330
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CLN11, GEP, GP88, PCDGF, PEPI, PGRN
Gene Description:
granulin precursor
Target Gene Accession:
NM_002087.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth.
Gene References into function
- downregulated significantly in acute myeloid leukemia patients whose white blood cell count was higher than 100 x 10(9)/L cells
- PEPI has a role in wound healing and innate immunity
- PCDGF has a role as a new autocrine growth factor in epithelial ovarian cancer
- granulin is a cellular protein that interacts with cyclin T1 to inhibit transcription
- PC-cell-derived growth factor has a critical role in breast cancer tumorigenesis.
- identified two proteins that interacted with the Tat protein of the caprine arthritis encephalitis virus: the EGF-like repeats 1-6 of the extracellular domain of the human Notch2 receptor and the epithelin/granulin growth factor precursor
- an important role of PCDGF in breast cancer pathogenesis and a potential novel target for the treatment of breast cancer
- PCDGF has a role in the development of prostatic intraepithelial neoplasia
- the Granulin-epithelin precursor has a role in hepatocellular carcinoma growth, invasion, and metastasis
- Data show that the granulin/epithelin precursor and some of its constituent granulin repeats can inhibit HIV-1 transcription via Tat without directly binding to cyclin T1.
- Overexpression of acrogranin is associated with uterine leiomyosarcoma
- PC cell-derived growth factor stimulates proliferation and confers Trastuzumab resistance to Her-2-overexpressing breast cancer cells
- PGRN haploinsufficiency leads to neurodegeneration because of reduced PGRN-mediated neuronal survival; and involvement of PGRN in frontotemporal dementia pathogenesis
- results identify mutations in PGRN as a cause of neurodegenerative disease and indicate the importance of PGRN function for neuronal survival
- Patients with PGRN mutations revealed variable onset ages with language dysfunction as a common presenting symptom, neuropathological examination showed dementia with ubiquitin-positive inclusions in all PGRN mutation carriers.
- This study discovered a new PGRN mutation (R493X) resulting in a stop codon in two frontotemporal dementia patients.
- familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin.(ALA-9 ASP).
- This study identified a novel 4 bp deletion mutation in exon 7 of PGRN gene (Leu271LeufsX10) associated with a variable clinical presentation ranging from FTDP-17 to corticobasal syndrome.
- Mutations in progranulin (PGRN), predicted to cause premature truncation of the PGRN coding sequence, are found in patients with inherited FTLD with immunoreactive ubiquitin (ub-ir) inclusions (FTDL-U) and ub-ir neuronal intranuclear inclusions.
- primary progressive aphasia has Progranulin mutations.
- Two novel frameshift mutations and three possible pathogenic missense mutations are reported.
- PCDGF plays an important role in stimulating proliferation and promoting invasion in ovarian cancer.
- Granulin-epithelin precursor overexpression was associated with CDDP chemoresistance. Finally, GEP overexpression increased tumor formation and protected cells from tumor regression in response to CDDP treatment in vivo
- Increased PGRN expression by microglia may play a pivotal role in the response to brain injury, neuroinflammation and neurodegeneration.
- the mutation spectrum in PGRN leading to loss of functional PGRN as the basis for frontotemporal dementia
- Findings from this study suggest that PGRN mutations may be associated with a specific and severe pattern of cerebral atrophy in subjects with ubiquitin-positive inclusions.
- PGRN mutations are not a common cause of amyotrophic lateral sclerosis phenotypes
- The results revealed that the common variations in IFT74 and GRN neither constitute strong ALS risk factors nor modify the age-at-onset.
- We describe a new mutation in the PGRN gene (A303AfsX57) associated with late-onset frontotemporal dementia and with "cat's eye" shaped intranuclear and cytoplasmatic ubiquitin immunoreactive inclusions in the neuropathological exam.
- Progranulin null mutations in both sporadic and familial frontotemporal dementia.
- A single GRN mutation in the two families studied was associated with variable clinical presentations consistent with the frontotemporal dementia syndrome
- Marked variation of the clinical phenotype makes it difficult to predict which cases of familial frontotemporal dementia will turn out to have a progranulin mutation.
- PGRN mutations at 17q21 may occur in apparently sporadic frontotemporal lobar dementia with ubiquitinated inclusions cases and in cases presenting with either primary progressive aphasia or the behavioral variant of frontotemporal dementia.
- Progranulin mutations cause haploinsufficiency leading to TDP-43 accumulation in frontotemporal lobar degeneration.
- The current results imply further genetic heterogeneity of frontotemporal dementia, as we detected only one GRN-linked family (about 1%). The value of discovering large kindred includes the possibility of a longitudinal study of GRN mutation carriers.
- Patients with a GRN mutation differ clinically from those with the same pathologic diagnosis but no GRN mutation.
- Clinical heterogeneity is associated with GRN haploinsufficiency, and genetic variability on the wild-type GRN allele might have a role in the age-related disease penetrance of GRN mutations.
- Progranulopathies are a major cause of the main phenotypes included in the FTLD complex.
- A progranulin mutation located within the signal sequence (PGRN A9D) results in cytoplasmic missorting with extremely low expression.
- reduced PGRN in absence of mutant protein is sufficient to cause neurodegeneration and that previously reported PGRN mutation frequencies are underestimated.
- MAPT and PGRN are responsible for the largest number of familial cases. Each of these genes differs by disease mechanism. Moreover mutations in both genes are associated with significant interfamilial and intrafamilial phenotypic variation.
- 2 pathogenic progranulin gene mutations in 4 frontotemporal dementia families were discovered: a single-base substitution within the 3' splice acceptor site of intron 6/exon 7 (g.5913A>G [IVS6-2A>G]) & a missense mutation in exon 1 (g.4068C>A)
- PGRN acts as a modifier of the course of disease in patients with amyotrophic lateral sclerosis, through earlier onset and shorter survival.
- sequencing of PGRN in 223 consecutive patients with FTLD revealed the presence of 13 mutations, or 14 mutations if a single affected sibling of two other affected siblings with proven PGRN mutation is included.
- Findings demonstrate a distinct molecular phenotype for GRN in frontotemporal lobar degeneration with ubiquitinated inclusions, not readily apparent on clinical or histopathological examination.
- patients with GRN mutations: have a shorter disease duration (with the exception of FTD-MND); present bvFTLD, language output impairment or with CBS; have parietal lobe dysfunction; and have evidence of asymmetrical brain atrophy on MR imaging.
- the clinical diagnosis at onset was fvFTD in 63% (20/32) of the mutation carriers, PPA in 16% (5/32), Alzheimer's disease in 9% (3/32), CBDS and LBD each in 6% (2/32) of the mutation carriers.
- An asymmetric degenerative process is associated with mutations in the progranulin (PGRN) gene and is seen in 3 PGRN cases presenting with either corticobasal syndrome or frontotemporal dementia and language deterioration.
- High-resolution NMR showed that only the three GEMs, hGrnA, hGrnC, and hGrnF, contain relatively well-defined three-dimensional structures in solution, while others are mainly mixtures of poorly structured disulfide isomers.
- Study reports that PGRN levels are reduced in the cerebrospinal fluid from frontotemporal lobe dementia patients with a PGRN mutation; PGRN and its proteolytic fragments promote neuronal survival and enhance neurite outgrowth in cultured neurons.
- Features in patients with FTDP linked to mutations in MAPT and PGRN, highlighting the many similarities but also a few important differences.
- Describe the clinical, neuropsychologic, and radiologic features of a family with a C31LfsX35 mutation in the progranulin gene CCDS11483.1
- This study further expands the clinical and pathological spectrum of PGRN mutations, and suggests the diagnosis could be missed in some individuals with atypical presentations.
- Two mutations were found: a novel pathogenic insertion (p.Gln300GlnfsX61) and a previously described point variant (p.T182M) of unclear pathogenicity in one of patients.
- PGRN mutations exert their pathogenic effect through haploinsufficiency and underlines the diversity of clinical presentations associated with these PGRN alterations.
- Although the complete phenotypic spectrum associated with GRN mutations is not yet fully characterized, it was shown that it is highlyheterogeneous, suggesting the influence of modifying factors.
- We 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.
- Our data support a role for PGRN in patients with clinically diagnosed Alzheimer disease (AD). Further, we hypothesize that at least some PGRN missense mutations might lead to loss of functional protein.
- Brain magnetic resonance imaging structural changes in a pedigree of asymptomatic progranulin mutation carriers.
- Results show that PCDGF have higher expression in esophageal squamous cell carcinoma, which indicate that they have a close relationship with angiogenesis.
- Genetic variability in a miR-659 binding-site of GNR increased the risk for TDP-43 positive frontotemporal dementia.
- In a patient with late-onset Alzheimer's disease, a novel allelic variant in exon 1 (g100169G > A) leads to p.Gly35Arg.
- Data demonstrate that progranulin protein is strongly reduced in plasma and CSF of affected and unaffected subjects carrying mutations in progranulin gene (PGRN Leu271LeufsX10 and Q341X).
- Mutations in the gene that encodes progranulin (GRN) on chromosome 17q21-22 have been identified in patients with hereditary FTD who have tau-negative, ubiquitin-positive inclusions.
- Our results do not support a major role for PGRN in the genetic etiology of Parkinson disease
- This study found increased staining for PGRN in motor tracts with vacuolar degeneration and glial cells in ALS sample spinal cord and brainstem sections compared to controls.
- Data show progranulin immunoreactivity throughout the medial temporal lobe in all dementia with Lewy bodies.
- findings add further support to the significance of GRN in frontotemporal dementia etiology and the presence of modifying genes
- Progranulin is a novel marker of chronic inflammation in obesity and type 2 diabetes that closely reflects omental adipose tissue macrophage infiltration.
- study estimated the contribution of the PGRN Leu271LeufsX10 mutation to frontotemporal lobar degeneration and related disorders in the Brescia cohort
- Proepithelin may play a critical role as an autocrine growth factor in the establishment and initial progression of prostate cancer.
- Patterns of atrophy identified on head magnetic resonance imaging show no regions of greater gray matter loss in subjects with mutations in PGRN, compared to gray matter loss in subjects with mutations of microtubule-associated protein tau (MAPT) gene.