Concepedia

Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness

Aditi Sinha, Sonika Sharma, Ashima Gulati, Alok Sharma, Sandeep Agarwala, Pankaj Hari, Arvind Bagga

Pediatric Nephrology · 2010 · 33 citations · 24 references

DOI

Concepts

References

24

The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A

Christian Faul, Mary Donnelly, Sandra Merscher et al. · Nature Medicine · 2008 · 985 citations · Full text

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Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Sandrine Barbaux, Patrick Niaudet, Marie-Claire Gübler et al. · Nature Genetics · 1997 · 748 citations

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Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms

Barbara Klamt · Human Molecular Genetics · 1998 · 381 citations · Full text

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Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins

S. Douglas Frasier, R.A. Bashore, H. David Mosier · The Journal of Pediatrics · 1964 · 276 citations

, , +14

The Major Podocyte Protein Nephrin Is Transcriptionally Activated by the Wilms’ Tumor Suppressor WT1

Nicole Wagner, Kay‐Dietrich Wagner, Yiming Xing et al. · Journal of the American Society of Nephrology · 2004 · 173 citations

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