Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis

@article{Sato2002MutationAO,
  title={Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis},
  author={Teruhiko Sato and Kuniaki Seyama and Hiroaki Fujii and Hiroshi Maruyama and Yasuhiro Setoguchi and Shin-ichiro Iwakami and Yoshinosuke Fukuchi and O Nikkei Techno-Research Hino},
  journal={Journal of Human Genetics},
  year={2002},
  volume={47},
  pages={20-28}
}
AbstractPulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease characterized by a diffuse hamartomatous proliferation of smooth muscle cells (LAM cells) in the lungs. Pulmonary LAM can occur as an isolated form (sporadic LAM) or in association with tuberous sclerosis complex (TSC) (TSC-LAM), a genetic disorder with autosomal dominant inheritance with various expressivity resulting from mutations of either the TSC1 or TSC2 gene. We examined mutations of both TSC genes in 6… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 54 CITATIONS, ESTIMATED 50% COVERAGE

Pulmonary lymphangioleiomyomatosis (LAM): progress and current challenges.

VIEW 6 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosis.

VIEW 3 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

The pathogenesis and imaging of the tuberous sclerosis complex

VIEW 10 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Inherited interstitial lung disease.

VIEW 5 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Pulmonary manifestations in tuberous sclerosis complex

VIEW 2 EXCERPTS
CITES BACKGROUND

New insights in lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis.

FILTER CITATIONS BY YEAR

2003
2019

CITATION STATISTICS

  • 4 Highly Influenced Citations

References

Publications referenced by this paper.
SHOWING 1-10 OF 41 REFERENCES

The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis.

VIEW 9 EXCERPTS
HIGHLY INFLUENTIAL

Definition and Criteria for Diagnosis

VIEW 6 EXCERPTS
HIGHLY INFLUENTIAL

Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT)

  • I Van Bakel, T Sepp, S Ward, JR Yates, AJ Green
  • Hum Mol Genet
  • 1997
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

VIEW 6 EXCERPTS
HIGHLY INFLUENTIAL

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

VIEW 7 EXCERPTS
HIGHLY INFLUENTIAL