Step to CEP152: Uncovering a new mutation implicated in Seckel syndrome

Clinical Genetics

Volumn 79, Issue 5, 2011, Pages 428-430

  Ladha, S ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ATR PROTEIN; CENTROSOMAL PROTEIN CEP152; CYCLIN DEPENDENT KINASE 2; CYCLIN DEPENDENT KINASE 2 INTERACTING PROTEIN; HISTONE H2AX; MEMBRANE PROTEIN; PERICENTRIN; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG;

ANAPHASE; ANEUPLOIDY; CELL CYCLE G0 PHASE; CELL CYCLE G1 PHASE; CELL CYCLE G2 PHASE; CELL CYCLE M PHASE; CELL CYCLE PROGRESSION; CELL CYCLE S PHASE; CENTROSOME; CHROMATID EXCHANGE; CHROMOSOMAL INSTABILITY; DNA DAMAGE; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; KARYOTYPE; MITOSIS INHIBITION; NOTE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SECKEL SYNDROME; SIGNAL TRANSDUCTION; TELOPHASE;

EID: 79953748137     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01655.x     Document Type: Note

References (6)

1. Kalay E, Yigit G, Aslan Y et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet 2011: 43: 23-26.
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3. O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet 2003: 33: 497-501.
4. Faivre L, Le Merrer M, Lyonnet S et al. Clinical and genetic heterogeneity of Seckel syndrome. Am J Med Genet 2002: 112: 379-383.
5. Griffith E, Walker S, Martin CA et al. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 2008: 40: 232-236.
6. Lovejoy CA, Xua X, Bansbach CE et al. Functional genomic screens identify CINP as a genome maintenance protein. Proc Natl Acad Sci U S A 2009: 106: 19304-19309.