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1 to 14 of 14  Show
  1. 1
    "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
    DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Category: Sequences.
    Tissue: Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 99 other entries.

  2. 2
    "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Category: Sequences.
    Tissue: Hepatoma.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 12928 other entries.

  3. 3
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 4671 other entries.

  4. 4
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  5. 5
    "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5).
    Category: Sequences.
    Tissue: Prostate and Testis.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 50454 other entries.

  6. 6
    Cited for: FUNCTION, INVOLVEMENT IN CILD15.
    Category: Function, Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 3 other entries.

  7. 7
    Category: Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  8. 8
    Category: Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 other entry.

  9. 9
    "Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element."
    Aminoso C., Vallespin E., Fernandez L., Arrabal L.F., Desviat L.R., Perez B., Santos F., Solera J.
    Gene 519:169-172(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CILD15.
    Category: Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).
  10. 10
    "Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia."
    Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T., Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.
    Eur. Respir. J. 44:1579-1588(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CILD15.
    Category: Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 16 other entries.

  11. 11
    "Mutations in GAS8, a gene encoding a nexin-dynein regulatory complex subunit, cause primary ciliary dyskinesia with axonemal disorganization."
    Jeanson L., Thomas L., Copin B., Coste A., Sermet-Gaudelus I., Dastot-Le Moal F., Duquesnoy P., Montantin G., Collot N., Tissier S., Papon J.F., Clement A., Louis B., Escudier E., Amselem S., Legendre M.
    Hum. Mutat. 37:776-785(2016) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
    Category: Subcellular Location.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 7 other entries.

  12. 12
    Category: Pathology & Biotech, Sequences.
    Annotation: Lung disease was worse in those with IDA/CA/MTD ultrastructural defects most of whom had biallelic mutations in ccdc40.Imported.
    Source: GeneRIF:55036.

    This publication is mapped to 1 other entry.

  13. 13
    "CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature."
    Sui W., Hou X., Che W., Ou M., Sun G., Huang S., Liu F., Chen P., Wei X., Dai Y.
    Clin Respir J 10:614-621(2016) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Results identified a novel mutant alleles in CCDC40 gene which altered the protein sequence and resulted in the ultrastructural defects in the microtubule structure of cilia suggesting that CCDC40 mutation may be a cause for ciliary dyskinesia.Imported.
    Source: GeneRIF:55036.
  14. 14
    "A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia."
    Takeuchi K., Kitano M., Kiyotoshi H., Ikegami K., Ogawa S., Ikejiri M., Nagao M., Fujisawa T., Nakatani K.
    Auris Nasus Larynx 45:585-591(2018) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: A novel mutation causing primary ciliary dyskinesia was found in Japanese patients.Imported.
    Source: GeneRIF:55036.

    This publication is mapped to 12 other entries.

1 to 14 of 14  Show
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