Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

@article{Walz2014CharacterizationOA,
  title={Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome},
  author={K. Walz and Devon A Cohen and Paul M. Neilsen and J. Foster and F. Brancati and K. Demir and R. Fisher and M. Moffat and N. Verbeek and K. Bj{\o}rgo and Adriana Lo Castro and P. Curatolo and G. Novelli and C. Abad and Cao Lei and L. Zhang and O. D{\'i}az-Horta and J. Young and D. Callen and M. Tekin},
  journal={Human Genetics},
  year={2014},
  volume={134},
  pages={181-190}
}
Mutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID), behavioral problems, and macrodontia. To understand the pathogenic mechanism that relates ANKRD11 mutations with the phenotype of KBG syndrome, we studied the cellular characteristics of wild-type ANKRD11 and the effects of mutations in humans and mice. We show that the abundance of wild-type ANKRD11 is tightly regulated during the cell cycle… Expand
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References

SHOWING 1-10 OF 26 REFERENCES
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome
  • 18
  • Highly Influential
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
  • 158
  • PDF
An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda.
  • 37
  • PDF
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
  • 82
  • PDF
Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG‐like syndrome
  • 33
A De Novo Deletion at 16q24.3 Involving ANKRD11 in a Japanese Patient With KBG Syndrome
  • 13
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation
  • 27
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
  • 35
  • PDF
Identification of ANKRD11 as a p53 coactivator
  • 60
  • Highly Influential
  • PDF
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