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28 Possible Causes for RASGRF1, gene

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  • Retinoid

    In ultraviolet B (UVB) irradiated mouse skin, the expression of ATRA target genes is found to be reduced.[ncbi.nlm.nih.gov] Analysis of primary cells from the patient revealed the expression of TMEM154-RASGRF1 mRNA and the resulting fusion protein, but no expression of the reciprocal RASGRF1-TMEM154[ncbi.nlm.nih.gov] Our data support the role of RORB gene variants/CNVs in neurodevelopmental disorders including epilepsy, and especially in generalized epilepsies with predominant absence[ncbi.nlm.nih.gov]

  • Transient Neonatal Diabetes Mellitus

    Mutations of the genes encoding the potassium channel are rarely associated with these transitional forms.[ncbi.nlm.nih.gov] Normalizing Rasgrf1 expression reversed this phenotype.[ncbi.nlm.nih.gov] The corresponding gene is imprinted maternally through an unknown mechanism and maps to 6q24-q25, within the minimal interval harboring the gene responsible for transient[ncbi.nlm.nih.gov]

  • Myopia

    Myopia was the only refractive error listed for 98 genes and hyperopia and the only refractive error noted for 28 genes, with the remaining 28 genes linked to phenotypes with[ncbi.nlm.nih.gov] Single-nucleotide polymorphisms of the RASGRF1 (rs8027411) and GJD2 (rs634990) genes were assessed by real-time polymerase chain reaction method.[ncbi.nlm.nih.gov] Abstract A boy with bilateral aniridia, iris coloboma, glaucoma, myopia and slight developmental delay was found to have a frame shift mutation in the PAX6 gene.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Myopia Type 15

    It is also called nearsightedness. ( Experimental Factor Ontology , EFO_0003927 ) Similar Terms Downloads & Tools Genes 83 genes co-occuring with the biological term myopia[amp.pharm.mssm.edu] The gene RASGRF1 location and SNP rs8027411 information are shown in Figure 1 .[bmcgenet.biomedcentral.com] […] coding sequences of unidentified human genes.[genecards.org]

  • Warburg Sjo Fledelius Syndrome

    Despite the size of the RAB3GAP1 gene deletion, the patient phenotype is mainly consistent with that of other WARBM1 patients, supporting strongly the theory that WARBM1 is[ncbi.nlm.nih.gov] Neoplasms, Experimental RASGRF2 Mental Retardation, X-Linked 46 ARHGEF6 Mesothelioma, Malignant FGD6 Myeloproliferative Disorder BCR Myocardial Infarction P2RY12 Myopia RASGRF1[selfdecode.com] The present review summarizes the current literature on these genes and the proteins they encode.[biochemsoctrans.org]

  • Autosomal Dominant Myopia 22

    “Several loci for keratoconus have been identified, and one gene has been discovered.”[eyeworld.org] RASGRF1 gene, located on 15q24.2, encoding RASGRF1.[ijo.in] ZFIN ID: ZDB-GENE-051113-100 Gene Name: primase and polymerase (DNA-directed) Gene Symbol: primpol Sequence Ontology ID : SO:0000704 {{control.fieldName}} Edit ID: {{control.nomenID[zfin.org]

  • Autosomal Dominant Myopia 21

    […] coding sequences of unidentified human genes.[genecards.org] […] chr15 79382812 c.29G A p.G10D Het D PD Del 1 None - Novel RASGRF1 chr15 79341870 c.592G A p.D198N Het T B Del 1 0.0009/NA - rs150981409 RASGRF1 chr15 79339236 c.730G T p.V244L[iovs.arvojournals.org] For example, for a particular gene, say the ability to roll your tongue, there is a dominant and a recessive gene.[sciencebrainwaves.com]

  • Autosomal Dominant Myopia Type 24

    […] coding sequences of unidentified human genes.[genecards.org] […] chr15 79382812 c.29G A p.G10D Het D PD Del 1 None - Novel RASGRF1 chr15 79341870 c.592G A p.D198N Het T B Del 1 0.0009/NA - rs150981409 RASGRF1 chr15 79339236 c.730G T p.V244L[iovs.arvojournals.org] One of the genes implicated in the development of myopia in several studies was RASGRF1.[news-medical.net]

  • Deep Dermatophytosis

    The researchers focused on a particular gene, CARD9 , because previous studies of other fungal infections had found a defect on the gene to be the cause.[sciencedaily.com] Impaired RASGRF1/ERK-mediated GM-CSF response characterizes CARD9 deficiency in French-Canadians. J Allergy Clin Immunol. 2016;137(4):1178-1188.e1171-1177.[rarediseases.org] He was found to be homozygous for a novel c.302G T variation in the exon 3 of the CARD9 gene (R101L). An identical sibling was found.[aspergillus.org.uk]

  • Autosomal Dominant Myopia 17

    MET MET proto-oncogene, receptor tyrosine kinase MFRP membrane frizzled-related protein MIPEP mitochondrial intermediate peptidase MIR100HG mir-100-let-7a-2 cluster host gene[amp.pharm.mssm.edu] Hammond CJ, Snieder H, Gilbert CE, Spector TD (2001) Genes and environment in refractive error: the twin eye study. Invest Ophthal Vis Sci 42:1492–1500 Google Scholar 3.[link.springer.com] Weill-Marchesani syndrome 1 ( WMS1 ; MIM 277600) is an autosomal recessive disorder caused by mutations in the ADAMTS10 gene. Weill-Marchesani read more[ctgt.net]

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