Serin/Threonin-Proteinkinase NEK1

Nagase T et al. (2001) Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.

El Hokayem J et al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

Thiel C et al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.

Janaswami PM et al. (1997) Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8.

Letwin K et al. (1992) A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells.

Vogler C et al. (1999) Clinical and pathologic findings in two new allelic murine models of polycystic kidney disease.

Upadhya P et al. (2000) Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice.

Surpili MJ et al. (2003) Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1.

Polci R et al. (2004) NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response.

Chen Y et al. (2008) Never-in-mitosis related kinase 1 functions in DNA damage response and checkpoint control.

Hilton LK et al. (2009) The NIMA-related kinase NEK1 cycles through the nucleus.

Fang X et al. (2015) The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair.

Orphanet article

NCBI article

OMIM.ORG article