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240 Possible Causes for RD3, gene

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  • Leber Congenital Amaurosis

    11.13)4Bnr/J and In (5)30Rk/J strains of rd3 mice by subretinal injections.[ncbi.nlm.nih.gov] To date, 23 LCA genes have been identified. Gene replacement in the RPE65 form of LCA represents a major advance in treatment, although limitations have been recognized.[ncbi.nlm.nih.gov] Stemming from these experiments, three independent clinical trials tested the safety of subretinal delivery of viral gene therapy to patients with mutations in the RPE65 gene[ncbi.nlm.nih.gov]

  • Kallmann Syndrome

    […] mutations were identified, as were 18 new candidate genes including: AMN1, CCKBR, CRY1, CXCR4, FGF13, GAP43, GLI3, JAG1, NOS1, MASTL, NOTCH1, NRP2, PALM2, PDE3A, PLEKHA5, RD3[ncbi.nlm.nih.gov] The KAL1 gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined.[ncbi.nlm.nih.gov] The KAL1 gene is responsible for the X-linked form of Kallmann syndrome.[ncbi.nlm.nih.gov]

  • Usher Syndrome Type I

    , PDE6H, PDZD7, PEX7, PHYH, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, POC1B, PPT1, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, PRSS56, RAB28, RAX2, RBP3, RBP4, RD3[asperbio.com] Based on our results we can conclude there is an absence of hot spot mutations in the MYO7A gene and that this gene plays a major role in Usher syndrome. 2006 Wiley-Liss,[ncbi.nlm.nih.gov] The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes.[ncbi.nlm.nih.gov]

  • Usher Syndrome

    , PDE6H, PDZD7, PEX7, PHYH, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, POC1B, PPT1, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, PRSS56, RAB28, RAX2, RBP3, RBP4, RD3[asperbio.com] A few patients were analyzed for both genes.[ncbi.nlm.nih.gov] […] new statistical approach is needed to describe the clinical differences between type I and type II Usher syndrome and between the 2 most frequent mutations in the USH2A gene[ncbi.nlm.nih.gov]

  • BCG Vaccine

    However, researchers concluded that the absence of RD3 occurred during the derivation of BCG and that RD3 did not make Mycobacterium tuberculosis virulent.[microbewiki.kenyon.edu] Polymorphism of the NRAMP1 gene was investigated by PCR amplification followed by RFLP analysis.[ncbi.nlm.nih.gov] […] content of 65 kD protein expressed in recombinant BCG was 35.69% in total bacterial protein and 74.09% in the cell lysate supernatants, suggesting that the recombinant HSP65 gene[ncbi.nlm.nih.gov]

  • Blastocystis Hominis

    For this purpose, DNA was subjected to two independent PCR (RD3-RD5, F1-R1) and to three independent treatments with restrictases (AluI, HinfI and RsaI).[ncbi.nlm.nih.gov] B cells (a gene transcription factor), and proapoptotic genes namely protein 53 and cathepsin B were also studied.[ncbi.nlm.nih.gov] Besides that, the gene expression of cytokine and nuclear transcriptional factors in response to the symptomatic and asymptomatic B. hominis antigen in HCT116 was also compared[ncbi.nlm.nih.gov]

  • Acatalasia

    PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3[mendelian.co] Test Description Order Options: Sequencing Del/Dup Rush / STAT Exclude VUS MCC Duo/Trio Turnaround Time: 3 - 5 weeks Cost: Call for details Genes: CAT ( 1 gene ) Coverage:[fulgentgenetics.com] Among the catalase gene polymorphisms rs769217 showed a weak association with type 1 diabetes.[peertechz.com]

  • Hypogonadotropic Hypogonadism 18

    […] mutations were identified, as were 18 new candidate genes including: AMN1, CCKBR, CRY1, CXCR4, FGF13, GAP43, GLI3, JAG1, NOS1, MASTL, NOTCH1, NRP2, PALM2, PDE3A, PLEKHA5, RD3[augusta.pure.elsevier.com] Note The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.[genecards.org] We also offer single gene tests for each gene included in the panel.[centogene.com]

  • Leber Congenital Amaurosis Type 9

    […] panel Genes (full coding region): AIPL1, CABP4, CEP290 (intronic position c.2991 1655A G included), CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3[asperbio.com] In this trial, researchers employed gene therapy in people with LCA due to a RPE65 mutation.[raredr.com] […] were analyzed in TULP1 , RD3 , LRAT , and IMPDH1 , due to the rarity of reported variants in the exons of these genes.[journals.plos.org]

  • Trigonocephaly

    MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3[mendelian.co] Hoxa1 is a key gene for skull development as well as for brain development and one of the clinical characteristics of Rett syndrome is deceleration in head growth.[ncbi.nlm.nih.gov] Microarray chromosomal analysis revealed the presence of a homozygous deletion involving the PTPRD gene, located on chromosome 9p22.3.[hal-amu.archives-ouvertes.fr]

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