Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)

@article{Azeem2008NovelMI,
  title={Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)},
  author={Zahid Azeem and Musharraf Jelani and Gul Naz and Muhammad Adnan Tariq and Naveed Wasif and Syed Kamran-ul-hassan Naqvi and Muhammad Ayub and Masoom Yasinzai and Muhammad Amin-ud-din and Abdul Wali and Giuseppe Al{\`i} and Muhammad Salman Chishti and Wasim Ahmad},
  journal={Human Genetics},
  year={2008},
  volume={123},
  pages={515-519}
}
Autosomal recessive hypotrichosis (LAH3) is a rare hair disorder characterized by sparse hair on scalp and the rest of the body of affected individuals. Recently mutations in a G protein-coupled receptor gene, P2RY5, located at LAH3 locus, have been reported in several families with autosomal recessive hypotrichosis simplex and woolly hair. For the present study, 22 Pakistani families with autosomal recessive hypotrichosis were enrolled. Genotyping using microsatellite markers linked to three… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 30 CITATIONS

Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm.

  • The Journal of investigative dermatology
  • 2012
VIEW 5 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families

  • Archives of Dermatological Research
  • 2008
VIEW 8 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

References

Publications referenced by this paper.
SHOWING 1-10 OF 10 REFERENCES

G protein - coupled receptor P 2 Y 5 and its ligand LPA are involved in maintenance of human hair growth

SM Pasternack, I vonKügelgen, +10 authors RC Betz
  • Nat Genet
  • 2008
VIEW 6 EXCERPTS
HIGHLY INFLUENTIAL