A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis

@article{Reish2016AHN,
  title={A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis},
  author={O. Reish and Liam Aspit and Arielle Zouella and Y. Roth and S. Polak‐Charcon and Tatiana Baboushkin and Lilach Benyamini and T. Scheetz and H. Mussaffi and V. Sheffield and R. Parvari},
  journal={Human Mutation},
  year={2016},
  volume={37}
}
We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole‐exome analysis revealed a homozygous change in NME7, resulting in deletion of an exon causing an in‐frame deletion of 34 amino acids located in the second NDK domain of the protein and segregated with the defective lateralization in the family. NME7 is an important developmental gene, and NME7 protein is a component of the γ‐tubulin ring complex. This mutation is… Expand
Semi-Lethal Primary Ciliary Dyskinesia in Rats Lacking the Nme7 Gene
Mutation in TDRD9 causes non-obstructive azoospermia in infertile men
Motile ciliopathies
Motile cilia genetics and cell biology: big results from little mice.
Predicting human disease mutations and identifying drug targets from mouse gene knockout phenotyping campaigns
Motile cilia and airway disease.
...
1
2
...

References

SHOWING 1-10 OF 29 REFERENCES
Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.
A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
Congenital Hydrocephalus in Genetically Engineered Mice
Situs Inversus in Dpcd/Poll–/–, Nme7–/– , and Pkd1l1–/– Mice
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice
...
1
2
3
...