Create issue ticket

339 Possible Causes for TYROBP, gene

Show results in: Italiano

  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    DESIGN AND SETTING: Mutation analysis of exons and adjacent introns in the SLC34A3 gene was conducted at an academic research laboratory and medical center.[scholars.duke.edu] RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)[mendelian.co] DESIGN AND SETTING Mutation analysis of exons and adjacent introns in the SLC34A3 gene was conducted at an academic research laboratory and medical center.[unboundmedicine.com]

  • Hypophosphatemic Rickets

    ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)[mendelian.co] RESULTS: Sequencing of all coding exons and exon-intron junctions of DMP1 and FGF23 genes showed no mutation.[ncbi.nlm.nih.gov] The PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X chromosome) encodes a 749-amino acid protein that putatively consists of an intracellular[ncbi.nlm.nih.gov]

  • Canavan Disease

    STXBP1, SUMF1, SURF1, SYNE1, TACO1, TAF2, TARS2, TM4SF20, TMEM126B, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TRMT10A, TRMT5, TSC1, TSEN54, TUBB2A, TUBB4A, TUFM, TYMP, TYROBP[genedx.com] This gene transfer study represents the first clinical use of AAV in the human brain and the first instance of viral gene transfer for a neurodegenerative disease.[ncbi.nlm.nih.gov] Mutations in a gene called ASPA cause Canavan’s disease. The gene provides instructions for the synthesis of an enzyme called aspartoacylase.[umassmed.edu]

  • Adams-Oliver Syndrome 5

    They found that two people from different families had mutations in the NOTCH1 gene.[globalgenes.org] RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)[mendelian.co] Using modern DNA technology to examine the patterns and variation of genes within two affected AOS families, the team detected mutations in the ARHGAP31 gene.[news-medical.net]

  • Osteosarcoma

    Based on these selected genes, WGCNA further explored 142 genes included in the most OS metastasis-correlated module.[ncbi.nlm.nih.gov] Among the predicted target of MiR-96, HLA-DPA1 and TYROBP were the hub genes.[ncbi.nlm.nih.gov] CONCLUSIONS: Here, we speculated that genes of the module 5 were the essential genes that were associated to human osteosarcoma.[ncbi.nlm.nih.gov]

  • Metachromatic Leukodystrophy

    These studies suggest that to be successful the ideal therapy for MLD must provide persistent and high level expression of the deficient gene, arylsulfatase A in the CNS.[ncbi.nlm.nih.gov] STXBP1, SUMF1, SURF1, SYNE1, TACO1, TAF2, TARS2, TM4SF20, TMEM126B, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TRMT10A, TRMT5, TSC1, TSEN54, TUBB2A, TUBB4A, TUFM, TYMP, TYROBP[genedx.com] This review discusses the potential therapeutic application of hematopoietic stem cell gene therapy and intracerebral gene transfer (brain gene therapy) in patients with MLD[ncbi.nlm.nih.gov]

  • Alexander Disease

    Here we report on a single case of juvenile-onset Alexander disease associated with a novel frameshift mutation in the GFAP gene.[ncbi.nlm.nih.gov] STXBP1, SUMF1, SURF1, SYNE1, TACO1, TAF2, TARS2, TM4SF20, TMEM126B, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TRMT10A, TRMT5, TSC1, TSEN54, TUBB2A, TUBB4A, TUFM, TYMP, TYROBP[genedx.com] This is the first report of a novel deletion mutation in the glial fibrillary acidic protein gene with a frame shift associated with Alexander disease.[ncbi.nlm.nih.gov]

  • Kenny-Caffey Syndrome Type 1

    ) Genetic syndromes with skeletal involvement (disease exome based NGS panel for 38 genes)[cgcgenetics.com] RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)[mendelian.co] Gracile bone dysplasia ( GCLEB ; MIM 602361) and Kenny-Caffey syndrome, type 2 ( KCS2 ; MIM 127000) are autosomal dominant disorders caused by mutations in the FAM111A gene[ctgt.net]

  • Advanced Bone Age

    Recognition of the gene implicated in a Mendelian disorder subsequently leads to an expansion of potential phenotypes associated with mutations in that gene as patients with[ncbi.nlm.nih.gov] RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)[mendelian.co] Molecular analysis of FBN1, FBN2, TGFBR1, TGFBR2, and CHST14 gene was normal, and SNP linkage analysis excluded more candidate genes.[ncbi.nlm.nih.gov]

  • CADASIL Syndrome

    STXBP1, SUMF1, SURF1, SYNE1, TACO1, TAF2, TARS2, TM4SF20, TMEM126B, TMEM165, TMEM187, TMEM70, TRAPPC9, TREM2, TREX1, TRMT10A, TRMT5, TSC1, TSEN54, TUBB2A, TUBB4A, TUFM, TYMP, TYROBP[genedx.com] The Notch3 gene has been recently identified as a causative gene for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).[ncbi.nlm.nih.gov] A heterozygous mutation c.3879C G in exon 24 of the NOTCH3 gene (p.Cys1293Trp) was detected, confirming a diagnosis of cerebral autosomal dominant arteriopathy with subcortical[jstage.jst.go.jp]

Further symptoms