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322 Possible Causes for LTBP4, gene

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  • Acute Myocardial Infarction

    LMNB1, MMP9 and TGFBR1 were up-regulated in patients with LV dysfunction and LTBP4 was down-regulated, as compared with patients with preserved LV function.[ncbi.nlm.nih.gov] Gene. 2018 Oct 30;675:233-239. doi: 10.1016/j.gene.2018.07.010. Epub 2018 Jul 4.[ncbi.nlm.nih.gov] Weighted gene co-expression network analysis was used to further extract key modules relating to AMI, followed by enrichment and TFN analyses.[ncbi.nlm.nih.gov]

  • Multiple Epiphyseal Dysplasia

    , CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LOX, LTBP4[genedx.com] The penetrance of the gene is complete. However, the expression of the gene is highly variable.[ncbi.nlm.nih.gov] Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM 2) to a region of chromosome 1 containing a type IX collagen gene. Am. J. Hum.[ncbi.nlm.nih.gov]

  • Stickler Syndrome

    , CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LOX, LTBP4[genedx.com] As an initial strategy, we tested polymorphisms that are within or near genes encoding other cartilage collagens.[ncbi.nlm.nih.gov] […] members of a family with Stickler syndrome were found to have a single base-pair deletion resulting in a translational frameshift in exon 40 of the procollagen II (COL2A1) gene[ncbi.nlm.nih.gov]

  • Saethre-Chotzen Syndrome

    […] with acanthosis nigricans FGFR3 Sanger Cutaneomucosal venous malformations TEK Del Dup NGS Cutis laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4[ctgt.net] Of interest, TWIST, the human counterpart of the murine Twist gene, has been localized on chromosome 7p21 as well.[ncbi.nlm.nih.gov] RESULTS: Neither TWIST gene analysis nor analysis of the P250R mutation on gene FGFR3 showed mutation within the coding sequence.[ncbi.nlm.nih.gov]

  • Menkes Disease

    […] with acanthosis nigricans FGFR3 Sanger Cutaneomucosal venous malformations TEK Del Dup NGS Cutis laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4[ctgt.net] Thirty known genes were altered in both cortex and cerebellum. Downregulation of genes involved in myelination, energy metabolism, and translation was the major finding.[ncbi.nlm.nih.gov] Mutations in this gene cause disorders of copper metabolism, such as Menkes disease.[ncbi.nlm.nih.gov]

  • Hypochondroplasia

    […] with acanthosis nigricans FGFR3 Sanger Cutaneomucosal venous malformations TEK Del Dup NGS Cutis laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4[ctgt.net] Abstract It has been reported that mutations in the FGFR3 gene cause autosomal dominant forms of dwarfism, achondroplasia (ACH) and hypochondroplasia (HCH).[ncbi.nlm.nih.gov] Recent studies mapped the achondroplasia gene on chromosome region 4p16.3 and identified a common mutation in the gene encoding the fibroblast growth factor receptor 3 (FGFR3[ncbi.nlm.nih.gov]

  • Cornelia De Lange Syndrome

    […] with acanthosis nigricans FGFR3 Sanger Cutaneomucosal venous malformations TEK Del Dup NGS Cutis laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4[ctgt.net] Our findings suggest a dynamic model where NIPBL loads cohesin to connect genes in communities, offering an explanation for the gene expression deregulation in the CdLS.[ncbi.nlm.nih.gov] We detected a NIPBL gene mutation in a present neonate with CdLS, the first report in Korea.[ncbi.nlm.nih.gov]

  • Sotos Syndrome

    […] with acanthosis nigricans FGFR3 Sanger Cutaneomucosal venous malformations TEK Del Dup NGS Cutis laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4[ctgt.net] RESULTS: NSD1 gene mutations were detected in 26 (72%) Sotos patients.[ncbi.nlm.nih.gov] Abstract Mutations and deletions of the NSD1 gene, located on chromosome 5q35, are responsible for over 90% of cases of Sotos syndrome.[ncbi.nlm.nih.gov]

  • Thoracic Aortic Aneurysm

    Latent TGF-β binding protein 4 (LTBP4) exhibited one of the highest significant under-expressions (10-fold change) in BAV secretomes with respect to TAV. qRT-PCR analysis[ncbi.nlm.nih.gov] To circumvent these problems, we developed a TAA gene panel for next-generation sequencing of 14 TAA genes.[ncbi.nlm.nih.gov] gene variants.[ncbi.nlm.nih.gov]

  • Frontonasal Dysplasia

    […] with acanthosis nigricans FGFR3 Sanger Cutaneomucosal venous malformations TEK Del Dup NGS Cutis laxa NGS panel ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4[ctgt.net] These conditions are caused by recessive mutations in members of the aristaless gene family, resulting in abnormal cranial neural crest migration and differentiation.[ncbi.nlm.nih.gov] We sought to identify the gene responsible for FND in a consanguineous Pakistani family segregating the disorder in autosomal recessive pattern.[ncbi.nlm.nih.gov]

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