Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.

@article{Nasim2011MolecularGC,
  title={Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.},
  author={Md. Nasim and Takeshi Ogo and Mohammad Gulzar Ahmed and Rebecca Randall and Hasnin M Chowdhury and Katie M G Snape and Teisha Y. Bradshaw and Laura Southgate and Grace J Lee and I. Jackson and Graham M Lord and John Simon Russell Gibbs and Martin R Wilkins and Keiko Ohta-Ogo and Kazufumi Nakamura and Barbara Girerd and Florence Coulet and Florent Soubrier and Marc Humbert and Nicholas W Morrell and Richard C Trembath and Rajiv D Machado},
  journal={Human mutation},
  year={2011},
  volume={32 12},
  pages={1385-9}
}
Heterozygous germline mutations of BMPR2 contribute to familial clustering of pulmonary arterial hypertension (PAH). To further explore the genetic basis of PAH in isolated cases, we undertook a candidate gene analysis to identify potentially deleterious variation. Members of the bone morphogenetic protein (BMP) pathway, namely SMAD1, SMAD4, SMAD5, and SMAD9, were screened by direct sequencing for gene defects. Four variants were identified in SMADs 1, 4, and 9 among a cohort of 324 PAH cases… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 37 extracted citations

Similar Papers

Loading similar papers…