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1 to 25 of 63  Show
  1. 1
    "Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster."
    Bai C., Connolly B., Metzker M.L., Hilliard C.A., Liu X., Sandig V., Soderman A., Galloway S.M., Liu Q., Austin C.P., Caskey C.T.
    Proc. Natl. Acad. Sci. U.S.A. 97:1230-1235(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), AMPLIFICATION IN GASTRIC TUMORS.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 3 other entries.

  2. 2
    "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HIS-1042.
    Category: Sequences.
    Tissue: Brain.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 97 other entries.

  3. 3
    "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 323 other entries.

  4. 4
    Ohara O., Nagase T., Kikuno R.
    Submitted (FEB-2012) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION TO 291-292.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  5. 5
    "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] (ISOFORMS 5; 7; 8 AND 9), VARIANTS THR-929 AND HIS-1042.
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 12927 other entries.

  6. 6
    "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORMS 2; 5 AND 6).
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1594 other entries.

  7. 7
    Category: Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).
  8. 8
    Category: Sequences.
    Tissue: Testis.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 2471 other entries.

  9. 9
    Cited for: FUNCTION, MUTAGENESIS OF LYS-48.
    Category: Function, Pathology & Biotech.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 26 other entries.

  10. 10
    "MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism."
    Gari K., Leon Ortiz A.M., Borel V., Flynn H., Skehel J.M., Boulton S.J.
    Science 337:243-245(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MMS19.
    Category: Interaction.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 6 and mapped to 5 other entries.

  11. 11
    "Constitutional mutations in RTEL1 cause severe dyskeratosis congenita."
    Walne A.J., Vulliamy T., Kirwan M., Plagnol V., Dokal I.
    Am. J. Hum. Genet. 92:448-453(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, VARIANTS DKCB5 LYS-251; ILE-492; ARG-710; VAL-739; GLU-897; TRP-957 AND LEU-964, VARIANT DKCB5 HIS-509 (ISOFORM 5), VARIANT DKCB5 HIS-1264 (ISOFORMS 1 AND 6).
    Category: Function, Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 1 other entry.

  12. 12
    "IOP1 protein is an external component of the human cytosolic iron-sulfur cluster assembly (CIA) machinery and functions in the MMS19 protein-dependent CIA pathway."
    Seki M., Takeda Y., Iwai K., Tanaka K.
    J. Biol. Chem. 288:16680-16689(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH MMS19.
    Category: Subcellular Location, Interaction.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 6 and mapped to 4 other entries.

  13. 13
    Cited for: INTERACTION WITH TERF1, VARIANT DKCB5 ILE-492.
    Category: Pathology & Biotech, Interaction, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 12 other entries.

  14. 14
    Cited for: INVOLVEMENT IN PFBMFT3, VARIANTS PFBMFT3 LEU-484; LEU-647 AND PRO-1124.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is cited by 1 and mapped to 5 other entries.

  15. 15
    "Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita."
    Ballew B.J., Yeager M., Jacobs K., Giri N., Boland J., Burdett L., Alter B.P., Savage S.A.
    Hum. Genet. 132:473-480(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DKCB5 ASP-591, VARIANT DKCA4 THR-621, VARIANTS SER-124; GLN-684; PRO-829; ASP-849; THR-929; HIS-1034; HIS-1042 AND THR-1059.
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 1 other entry.

  16. 16
    Cited for: VARIANTS DKCB5 MET-699 AND MET-745, VARIANT DKCB5 ARG-489 (ISOFORM 5), VARIANT DKCB5 ARG-1244 (ISOFORMS 1 AND 6).
    Category: Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 1 other entry.

  17. 17
    "A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome."
    Ballew B.J., Joseph V., De S., Sarek G., Vannier J.B., Stracker T., Schrader K.A., Small T.N., O'Reilly R., Manschreck C., Harlan Fleischut M.M., Zhang L., Sullivan J., Stratton K., Yeager M., Jacobs K., Giri N., Alter B.P.
    Petrini J.H.
    PLoS Genet. 9:E1003695-E1003695(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DKCB5 HIS-509 (ISOFORM 5) AND HIS-1264 (ISOFORMS 1 AND 6), FUNCTION, CHARACTERIZATION OF VARIANTS DKCB5 HIS-509 (ISOFORM 5) AND HIS-1264 (ISOFORMS 1 AND 6).
    Category: Function, Pathology & Biotech, Sequences.
    Source: UniProtKB/Swiss-Prot (reviewed).

    This publication is mapped to 1 other entry.

  18. 18
    "The essential WD40 protein Cia1 is involved in a late step of cytosolic and nuclear iron-sulfur protein assembly."
    Balk J., Aguilar Netz D.J.A., Tepper K., Pierik A.J., Lill R.
    Mol. Cell. Biol. 25:10833-10841(2005) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-2564769.

    This publication is cited by 1 and mapped to 18 other entries.

  19. 19
    "Structure of the yeast WD40 domain protein Cia1, a component acting late in iron-sulfur protein biogenesis."
    Srinivasan V., Netz D.J.A., Webert H., Mascarenhas J., Pierik A.J., Michel H., Lill R.
    Structure 15:1246-1257(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Pathway.
    Source: Reactome:R-HSA-2564769.

    This publication is cited by 1 and mapped to 8 other entries.

  20. 20
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator); On 9p21 rs1412829 near CDKN2B had discovery P = 3.4 x 10(-8) replication P = 0.0038 and combined P = 1.85 x 10(-10). On 20q13.3 rs6010620 intronic to RTEL1 had discovery P = 1.5 x 10(-7) replication P = 0.00035 and combined P = 3.40 x 10(-9).
    Source: GeneRIF:51750.

    This publication is mapped to 8 other entries.

  21. 21
    Category: Pathology & Biotech.
    Annotation: Observational study meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:51750.

    This publication is mapped to 36 other entries.

  22. 22
    Category: Function, Pathology & Biotech.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:51750.

    This publication is mapped to 18735 other entries.

  23. 23
    "Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival."
    Liu Y., Shete S., Etzel C.J., Scheurer M., Alexiou G., Armstrong G., Tsavachidis S., Liang F.W., Gilbert M., Aldape K., Armstrong T., Houlston R., Hosking F., Robertson L., Xiao Y., Wiencke J., Wrensch M., Andersson U., Melin B.S., Bondy M.
    J. Clin. Oncol. 28:2467-2474(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Polymorphisms in the LIG4 BTBD2 HMGA2 and RTEL1 genes which are involved in the double-strand break repair pathway are associated with glioblastoma multiforme survival.
    Source: GeneRIF:51750.

    This publication is mapped to 9 other entries.

  24. 24
    Category: Pathology & Biotech.
    Annotation: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator).
    Source: GeneRIF:51750.

    This publication is mapped to 23 other entries.

  25. 25
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator).
    Source: GeneRIF:51750.

    This publication is mapped to 211 other entries.

1 to 25 of 63  Show
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