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Because the LMX1B mutation impairs how podocytes and glomerular filtration slits develop and function, up to 10% can develop end-stage renal failure, she said.
kromozomun uzun kolunda (9q) yerlesik tek bir gendeki (LMX1B) mutasyonun birden fazla fenotipik ozelligi etkiledigi (pleiotropik), otozomal dominant gecisli bir hastaliktir.
LMX1B geni glomeruler bazal membranin gelisiminde ve dolayisiyla glomeruler yapinin islevinde etkindir [1-3].
More than 140 heterozygous mutations in LMX1B have been reported,  including missense, splicing, deletions, and nonsense mutations.
(8.) Romero P, Sanhueza F, Lopez P, Reyes L, Herrera L (2011) c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.
(8) elucidated the role of LMX1B in the pathway of normal GBM morphogenesis and renal dysplasia in NPS patients by demonstrating the dysregulation of type IV collagen expression.
As in Lmx1b and Pod1 knockout mice, in mice lacking FOXC2 synthesis of collagen type IV [[alpha].sub.3] and [[alpha].sub.4] chains, nephrin, MafB, and Cited2, a novel podocyte transcriptional coactivator, are downregulated (reviewed in Rascle et al (8)).
"Perhaps the syndrome is so variable that patients with defects in the LMX1B gene could just develop glaucoma." If LMX1B is involved in a large number of glaucoma cases, testing for the defective gene in families with a history of glaucoma would be warranted, he suggests.
To create the mutant animals, the scientists deactivated both copies of a mouse gene called Lmx1b. It encodes a transcription factor, a DNA-binding protein regulating the activity of genes.
Whether MDA products were human DNA or artifacts of WGA was determined by PCR with primers specific to a human DNA sequence (LMX1B exon 3) (17) and a short tandem repeat marker (AFM143 x d12) and separation by 2% agarose gel electrophoresis.
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- LN Tolstoi
- LN Tolstoi