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68 Possible Causes for DHX38, human, protein

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  • Indian Childhood Cirrhosis

    — DEAH (Asp Glu Ala His) box polypeptide 38 Identifiers Symbols DHX38; DDX38; KIAA0224; PRP16; PRPF16 External IDs … Wikipedia HAS3 — Hyaluronan synthase 3, also known as[translate.academic.ru] This process has been most thoroughly characterized in baker's yeast and is generally well conserved from yeast to humans.[ncbi.nlm.nih.gov] Using EGFP and His-tagged cirhin fusion proteins expressed in HeLa and HepG2, cells we show that cirhin is a nucleolar protein and that the R565W mutation, for which all NAIC[ncbi.nlm.nih.gov]

  • Ocular Albinism

    Oa1 behaved as G protein coupled receptor in a yeast-based GPCR signalling assay.[ncbi.nlm.nih.gov] COL11A1, COL11A2, COL18A1, COL2A1, COL4A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, CRB1, CRYAA, CRYBA4, CRX, CSPP1, CTNNA1, CWC27, CYP1B1, CYP4V2, DFNB31, DHDDS, DHX38[dbgen.org] Abstract Deep intronic mutations are often ignored as possible causes of human disease.[ncbi.nlm.nih.gov]

  • Retinitis Pigmentosa

    […] response and signalling network that aims to enhance the folding and degradation of misfolded proteins to restore proteostasis.[ncbi.nlm.nih.gov] […] pigmentosa with or without skeletal anomalies (RPSKA) AR 5 7 CYP4V2 Retinitis pigmentosa, Bietti crystalline corneoretinal dystrophy AR 31 88 DHDDS Retinitis pigmentosa AR 4 7 DHX38[blueprintgenetics.com] METHODS: In our pre-clinical study, purified human fetal-derived retinal progenitor cells (RPCs) were transplanted into the diseased retina of Royal College of Surgeons (RCS[ncbi.nlm.nih.gov]

  • Vitreoretinopathy,Familial, Exudative

    PEX12, PEX5, WDR35, MVK, ABCC6, GNPTG, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38[mendelian.co] TSPAN12 cDNA ORF Clone, Human, untagged: Alternative Names EVR5 cDNA ORF Clone, Human; NET-2 cDNA ORF Clone, Human; NET2 cDNA ORF Clone, Human; TM4SF12 cDNA ORF Clone, Human[kr.sinobiological.com] Your Input: Neighborhood Gene Fusion Cooccurence Coexpression Experiments Databases Textmining (748 aa) 0.670 KIF11 Kinesin-like protein KIF11; Motor protein required for[string-db.org]

  • Ataxia - Hypogonadism - Choroidal Dystrophy Syndrome

    […] phosphatase 2, regulatory subunit B, beta ( PPP2R2B ); Atassia spinocerebellare, tipo 17 (SCA17) : gene TATA box binding protein ( TBP ); Atassia spinocerebellare, tipo 14[isn.cnr.it] For example: DHX38 (16q22.2). A homozygous missense mutation in DHX38 causes recessive RP and macular coloboma in a consanguineous family.[massgenomics.org] […] by medical geneticists, genetic counselors, endocrinologists, gynecologists, urologists, and students who need fully-referenced information about the genetic aspects of humans[books.google.com]

  • Retinal Dystrophy

    […] ceroid lipofuscinosis CYP4V2 Retinitis pigmentosa, Bietti crystalline corneoretinal dystrophy DFNB31 Deafness, Usher syndrome DGKQ retinopathy DHDDS Retinitis pigmentosa DHX38[molecularvisionlab.com] Genetics, Ingelheim, Germany. 5 Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.[ncbi.nlm.nih.gov] We herein report that ACBD5 is a peroxisomal tail-anchored membrane protein exposing its ACBD to the cytosol.[ncbi.nlm.nih.gov]

  • Boucher-Neuhauser Syndrome

    , PEX16, PEX26, PEX10, PEX12, PEX5, MVK, UNC119, CFAP410, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38[mendelian.co] Dmel\ sws is also orthologous to a second human gene, PNPLA7.[flybase.org] Oncology and Haematology: PNPLA6 No data available for Genatlas for PNPLA6 Gene Neuropathy target esterase and a homologous Drosophila neurodegeneration-associated mutant protein[genecards.org]

  • Retinitis

    […] pigmentosa with or without skeletal anomalies (RPSKA) AR 5 7 CYP4V2 Retinitis pigmentosa, Bietti crystalline corneoretinal dystrophy AR 31 88 DHDDS Retinitis pigmentosa AR 4 7 DHX38[blueprintgenetics.com] This study aims at investigating the effects of intravitreal injection of recombinant human NGF (rhNGF) on retinal photoreceptors apoptosis in an animal model of RP, the Royal[ncbi.nlm.nih.gov] Among these, the retinaldehyde-binding protein 1 gene, RLBP1, is the most frequently involved and several founder mutations were reported.[ncbi.nlm.nih.gov]

  • X-Linked Recessive Ocular Albinism

    The deletion in GPR143 is predicted to result in a truncated protein of 120 amino acid residues, in which the C-terminus of GPR143 protein was deleted.[ijo.in] COL11A1, COL11A2, COL18A1, COL2A1, COL4A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL9A3, CRB1, CRYAA, CRYBA4, CRX, CSPP1, CTNNA1, CWC27, CYP1B1, CYP4V2, DFNB31, DHDDS, DHX38[dbgen.org] MRI imaging of the optic chiasm in humans with albinism reveals it to be smaller with a wider angle between optic tracts, reflecting the atypical crossing of nerve fibers.[disorders.eyes.arizona.edu]

  • Senior Loken Syndrome

    […] ceroid lipofuscinosis CYP4V2 Retinitis pigmentosa, Bietti crystalline corneoretinal dystrophy DFNB31 Deafness, Usher syndrome DGKQ retinopathy DHDDS Retinitis pigmentosa DHX38[molecularvisionlab.com] In this way, molecules of the visual pigment rhodopsin are transferred up and down the connecting cilia in every human retina each day.[humpath.com] IQCB1 encodes an IQ-domain protein, nephrocystin-5. All individuals with IQCB1 mutations have retinitis pigmentosa.[ncbi.nlm.nih.gov]