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Displaying 10 of 10 results for "NPHP4"
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  1. Mapping genetic modifiers of ARPKD ArrayExpress

    ID: E-GEOD-58229

    Description: tively; P<0.001) compared to the PCK kidneys (26±4% cystic), which coincided with significantly reduced kidney weights in the FHH.Pkhd1 and SS.Pkhd1. Liver cyst formation and liver weight did not differ between PCK, FHH.Pkhd1, and SS.Pkhd1. These data indicated that the PCK genome harbors genetic modifier(s) of ARPKD severity that are not present in the FHH and SS genomes. Using high density SNP array genotyping and microarray expression analysis, we identified 50 potential modifiers of ARPKD severity in the PCK rat. Of these candidates, a damaging nonsynonymous variant in Nphp4 stood out as the most likely candidate based on variant segregation, protein modeling, network analysis, and gene ontology. Nphp4 is widely associated with the autosomal recessive cilliopathy and nephronopthisis, but had not been previously implicated in the molecu...

  2. TMEM107 in joubert Syndrome : TMEM107 recruits ciliopathy proteins to anchored periodic subdomains of the ciliary transition zone membrane and is muta... BioProject

    ID: PRJEB11176

    Keywords: Other

    Access Type: download

    dataset.description: ilium composition and signaling by facilitating a protein diffusion barrier at the ciliary base, and TZ defects associate with ciliopathies such as Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP) and Joubert syndrome (JBTS). Ho...
  3. Mapping genetic modifiers of ARPKD BioProject

    ID: PRJNA251651

    Keywords: Transcriptome or Gene expression

    Access Type: download

    dataset.description: tively; P<0.001) compared to the PCK kidneys (26±4% cystic), which coincided with significantly reduced kidney weights in the FHH.Pkhd1 and SS.Pkhd1. Liver cyst formation and liver weight did not differ between PCK, FHH.Pkhd1, and SS.Pkhd1. These data indicated that the PCK genome harbors genetic modifier(s) of ARPKD severity that are not present in the FHH and SS genomes. Using high density SNP array genotyping and microarray expression analysis, we identified 50 potential modifiers of ARPKD severity in the PCK rat. Of these candidates, a damaging nonsynonymous variant in Nphp4 stood out as the most likely candidate based on variant segregation, protein modeling, network analysis, and gene ontology. Nphp4 is widely associated with the autosomal recessive cilliopathy and nephronopthisis, but had not been previously implicated in the molecu...
  4. Mapping genetic modifiers of ARPKD OmicsDI

    ID: E-GEOD-58229

    Date Released: 06-13-2015

    Description: tively; P<0.001) compared to the PCK kidneys (26±4% cystic), which coincided with significantly reduced kidney weights in the FHH.Pkhd1 and SS.Pkhd1. Liver cyst formation and liver weight did not differ between PCK, FHH.Pkhd1, and SS.Pkhd1. These data indicated that the PCK genome harbors genetic modifier(s) of ARPKD severity that are not present in the FHH and SS genomes. Using high density SNP array genotyping and microarray expression analysis, we identified 50 potential modifiers of ARPKD severity in the PCK rat. Of these candidates, a damaging nonsynonymous variant in Nphp4 stood out as the most likely candidate based on variant segregation, protein modeling, network analysis, and gene ontology. Nphp4 is widely associated with the autosomal recessive cilliopathy and nephronopthisis, but had not been previously implicated in the molecu...

  5. NPHP3_DANRE UniProt:Swiss-Prot

    ID: P0CI65

    Description: Nephrocystin-3 TPR 1 TPR 2 TPR 3 TPR 4 TPR 5 TPR 6 TPR 7 TPR 8 TPR 9 TPR 10 Poly-Ile

  6. NPHP3_XENTR UniProt:Swiss-Prot

    ID: A0JM23

    Description: Nephrocystin-3 TPR 1 TPR 2 TPR 3 TPR 4 TPR 5 TPR 6 TPR 7 TPR 8 TPR 9 Poly-Gly Poly-Ser Poly-Ile

  7. NPHP3_XENLA UniProt:Swiss-Prot

    ID: Q6AZT7

    Description: Nephrocystin-3 TPR 1 TPR 2 TPR 3 TPR 4 TPR 5 TPR 6 TPR 7 TPR 8 TPR 9

  8. Transcription profiling of mouse renal epithelial cells from inv mutant animals ArrayExpress

    ID: E-GEOD-4462

    Description: Nephronophthisis (NPHP) is a group of progressive renal disorders characterized by a variable number of cysts associated with corti...

  9. Changed gene profile in inv cystic kidney BioProject

    ID: PRJNA94387

    Keywords: Transcriptome or Gene expression

    Access Type: download

    dataset.description: Nephronophthisis (NPHP) is a group of progressive renal disorders characterized by a variable number of cysts associated with corti...
  10. Transcription profiling of mouse renal epithelial cells from inv mutant animals OmicsDI

    ID: E-GEOD-4462

    Date Released: 03-27-2012

    Description: Nephronophthisis (NPHP) is a group of progressive renal disorders characterized by a variable number of cysts associated with corti...


Displaying 10 of 10 results for "NPHP4"