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8,609 Possible Causes for OCRL1, analysis, gene, mutation

Did you mean: OCRL1, analysis, gene, mute

  • Hypophosphatemic Rickets

    A compilation of XLH mutation hotspots based on the PHEX gene database and mutations found in the FGF23, DMP1, and ENPP1 genes are also made available in this review.[ncbi.nlm.nih.gov] Direct sequencing of the OCRL1 gene (responsible for the oculocerebrorenal syndrome of Lowe) revealed a de novo c.2282_2283insT in exon 20, which resulted in premature termination[ncbi.nlm.nih.gov] We conducted a genetic analysis of patients with FGF23-related hypophosphatemic rickets to clarify their etiology and evaluate the prevalence of XLHR among this group.[ncbi.nlm.nih.gov] Sequencing of all coding exons and exon-intron junctions of DMP1 and FGF23 genes showed no mutation.[ncbi.nlm.nih.gov]

  • Congenital Cataract

    Subsequent Sanger sequencing of this mutation in all family members revealed that this mutation cosegregated with the phenotype in the family with full penetrance.[ncbi.nlm.nih.gov] Syndrome Lowe Syndrome OCRL1 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase, Deficiency Of OCRL 309000 Genetic Test Registry Lung Cancer 211980 Genetic Test Registry[ukgtn.nhs.uk] Exome sequencing analysis revealed variations between the twins in 442 genes, 10 of which are expressed in the eye.[ncbi.nlm.nih.gov] […] collected DNA samples from 74 patients with SCC and 20 patients with traumatic cataract (TC) in an age-matched group and performed genomic sequencing of 61 lens-related genes[ncbi.nlm.nih.gov]

  • Obesity

    Whole-exome sequencing and targeted sequencing were used to detect the LEPR mutations. RNA analysis was performed to assess the effect of splice-site mutations.[ncbi.nlm.nih.gov] This study aimed to validate body composition analysis using bioelectrical impedance analysis (BIA) against dual-energy X-ray absorptiometry (DXA) in children with obesity[ncbi.nlm.nih.gov] In addition, interaction analyses among these loci implied a potential gene-gene interaction between MTHFR and FGF5.[ncbi.nlm.nih.gov] Subgroup analysis and sensitivity were also performed. Ten eligible studies involving 7210 cases were performed to identify the association strength.[ncbi.nlm.nih.gov]

  • Skin Infection

    In contrast, only 13% of the control group reported FLG mutations (22 heterozygous variants).[ncbi.nlm.nih.gov] A 1-way analysis of variance was conducted to compare temperature measurements among the infrared thermometry devices.[ncbi.nlm.nih.gov] There was also increased expression of genes encoding virulence factors, namely secreted toxins and fibronectin and/or fibrinogen-binding proteins.[ncbi.nlm.nih.gov] Leukocyte adhesion deficiency (LAD) I is a well-described genetic disorder in which leukocytes are unable to migrate to sites of inflammation due to mutations in the ITGB2 gene[ncbi.nlm.nih.gov]

    Missing: OCRL1
  • Otitis Media

    The causal mutation was identified as a missense change, L972P, in the Nischarin (NISCH) gene. edison mice develop a serous or granulocytic effusion, increasingly macrophage[ncbi.nlm.nih.gov] This cost-effectiveness analysis indicates that ET is comparable to MT for treating chronic otitis media in Taiwan.[ncbi.nlm.nih.gov] S100A8, S100A9 and S100A12 gene expressions were elevated in SP-infected HMEECs in time-dependent manner.[ncbi.nlm.nih.gov] Methods This secondary data analysis from the Pedianet database considered children aged 0 – 6 years between 01/2003 and 12/2007.[bmcpediatr.biomedcentral.com]

    Missing: OCRL1
  • Osteoporosis

    Plastin 3 (PLS3) mutations are associated with an X-linked osteoporosis.[ncbi.nlm.nih.gov] Eighteen studies involving 12 643 participants were included in this meta-analysis.[ncbi.nlm.nih.gov] Gene ontology enrichment analysis and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analyses were conducted.[ncbi.nlm.nih.gov] Patients carrying homozygous WNT1 mutations have more frequent fractures while heterozygous carriers of the mutation in WNT1 gene are also found to have early onset osteoporosis[ncbi.nlm.nih.gov]

    Missing: OCRL1
  • Traffic Accident

    This heterozygous frame shift mutation at this point was identified in the man's son.[ncbi.nlm.nih.gov] This meta-analysis aimed to explore the pooled prevalence of PTSD among RTA survivors.[ncbi.nlm.nih.gov] The present report represents an example of showing the usefulness of 16S rRNA gene sequencing for identification of slow growing bacteria.[ncbi.nlm.nih.gov] This paper presents an analysis of 1536 accidents on rural highways in Spain, where 18 variables representing the aforementioned contributing factors were used to build 3[ncbi.nlm.nih.gov]

    Missing: OCRL1
  • Acute Gastroenteritis

    A whole genome sequencing revealed that all of the viral genome segments were highly similar to those of the Rotarix virus, with the exception of five amino acid mutations[ncbi.nlm.nih.gov] Phylogenetic analysis revealed that all 6 AiV subjects clustered with genotype B.[ncbi.nlm.nih.gov] Phylogenetic analysis of nucleotide sequences classified GCR strains of the study in to I2 genotype of the VP6 gene.[ncbi.nlm.nih.gov] The clinical characteristics of patients were studied, and the rplD, rplV, and 23S rRNA domain V genes were sequenced to detected resistance-related mutations.[ncbi.nlm.nih.gov]

    Missing: OCRL1
  • Influenza

    We show that mutations that are measured to be more favorable for viral growth are enriched in evolutionarily successful H3N2 viral lineages relative to mutations that are[ncbi.nlm.nih.gov] A total of 1957 publications were identified, 143 were selected for full review, and 13 RCTs were included in our final analysis.[ncbi.nlm.nih.gov] […] triple-reassortant influenza A virus with a HA that resembles H3 of human seasonal influenza from 2004 to 2005, N2 from influenza A virus already established in swine, and the internal gene[ncbi.nlm.nih.gov] We detected six reassortants with gene segments derived from human H1N1/H1N1pdm09 and various human H3N2 viruses that circulated during various periods since 1968.[ncbi.nlm.nih.gov]

    Missing: OCRL1
  • Oculocerebrorenal Syndrome

    […] or a codon deletion but was not detectable in those with premature termination mutations.[ncbi.nlm.nih.gov] As part of our study on phenotypic and genetic heterogeneity in OCRL, mutation analysis resulted in the identification of mutations mostly in the second two-thirds of OCRL1[clinicaltrials.gov] Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis . Scientific Reports , 7 (1), [1442].[indiana.pure.elsevier.com] The predicted amino acid sequence of the OCRL gene, OCRL-1, was used to develop antibodies against the OCRL-1 protein.[ncbi.nlm.nih.gov]