Nephrology Medical News about NPHS2 Mutations

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NPHS2 Mutations in Children With Steroid-Resistant Nephrotic Syndrome
Iranian Journal of Kidney Diseases, 06/30/09

Otukesh H et al. - The study suggests that NPHS2 mutations in exons 5 and 7 are not seen. Therefore, NPHS2 (exons 5 and 7) mutation for screening in Iranian children with steroid-resistant nephritic syndrome is not recommended. Other exons of podocin or other podocyte proteins in Iranian children may play a role in pathogenesis of steroid-resistant nephritic syndrome.

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Prognostic significance of alterations in KRAS isoforms KRAS-4A/4B and KRAS mutations in colorectal carcinoma
The Journal of Pathology, 10/16/09 Relevance Score: 48%

Genetic Testing for Long-QT Syndrome. Distinguishing Pathogenic Mutations From Benign Variants
Circulation, 10/23/09 Relevance Score: 47%

Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers
Journal of Clinical Oncology, 10/29/09 Relevance Score: 46%

MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations
Rheumatology International, 10/16/09 Relevance Score: 46%

Vitamin D receptor expression is associated with PIK3CA and KRAS mutations in colorectal cancer
Cancer Epidemiology, Biomarkers & Prevention, 10/05/09 Relevance Score: 46%