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7 Possible Causes for Mutation in the Radixin Gene

  • Autosomal Recessive Deafness 24

    (PMID: 17226784) Khan SY … Riazuddin S (Human mutation 2007) 2 3 4 22 60 Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed[genecards.org] Genome Epidemiology (HuGE) Navigator RDX Atlas of Genetics and Cytogenetics in Oncology and Haematology: RDX No data available for Genatlas for RDX Gene Mutations of the RDX gene[genecards.org]

  • Nystagmus

    METHODS: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7) and G protein-coupled receptor 143 gene (GPR143) account[ncbi.nlm.nih.gov] In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN.[ncbi.nlm.nih.gov]

  • Essential Thrombocythemia

    A point mutation in exon 14 of JAK2 V617F gene results in substitution of codon 617 (valine) with phenylalanine in the JH2 domain, which causes inactivation of its inhibitory[cellular-molecular-medicine.imedpub.com] V617F protein includes an active tyrosine kinase domain of JAK2 V617F homology1 (JH1), an inactive catalytic domain of JH2, Src homology domain 2 (SH2) and a 4-point-1erzin radixin[cellular-molecular-medicine.imedpub.com]

  • Hereditary Nystagmus

    Mutations in the FRMD7 gene are currently thought to be the most common cause of XLIN. 8 Gene expression occurs mainly in the retina and in those parts of the brain that coordinate[bmjopen.bmj.com] FERM (F for 4.1 protein, E for ezrin, R for radixin and M for moesin) highly conserved domain and a FERM-adjacent domain without significant homology.[bmjopen.bmj.com] To date, two major genes, FRMD7 and GPR143 , have been identified as the causative genes of hereditary X-linked infantile nystagmus (XLIN). 7 The FRMD7 gene contains an N-terminal[bmjopen.bmj.com]

  • X-Linked Recessive Ocular Albinism

    Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7) and G protein-coupled receptor 143 gene (GPR143) account[ijo.in] Keywords: Four-point-one, ezrin, radixin, moesin domain-containing 7 gene, G protein-coupled receptor 143 gene, X-linked congenital nystagmus How to cite this article: Liu[ijo.in] Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family.[ijo.in]

  • X-Linked Congenital Nystagmus Type 1

    Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7) and G protein-coupled receptor 143 gene (GPR143) account[ijo.in] These include the G protein-coupled receptor 143 gene ( GPR143 ) at Xp22 [ 4 ] and the four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 gene ( FRMD7[molvis.org] Mutations in the FRMD7 gene are currently thought to be the most common cause of XLIN. 8 Gene expression occurs mainly in the retina and in those parts of the brain that coordinate[bmjopen.bmj.com]

  • Thrombocythemia 2

    A point mutation in exon 14 of JAK2 V617F gene results in substitution of codon 617 (valine) with phenylalanine in the JH2 domain, which causes inactivation of its inhibitory[cellular-molecular-medicine.imedpub.com] V617F protein includes an active tyrosine kinase domain of JAK2 V617F homology1 (JH1), an inactive catalytic domain of JH2, Src homology domain 2 (SH2) and a 4-point-1erzin radixin[cellular-molecular-medicine.imedpub.com]

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