Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.
Genotype-phenotype studies in nailpatella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.
A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutation, deletion, and evidence of mosaicism in unaffected parents.
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.
The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes.
The podocyte-specific inactivation of Lmx1b, Ldb1 and E2a yields new insight into a transcriptional network in podocytes.
The gene's link to NPS grew stronger when the researchers realized that the human version of Lmx1b maps to the exact region of chromosome 9 where the syndrome's mutant gene is thought to reside.
Curiously, it takes mutations in both copies of Lmx1b to produce symptoms in mice, although a defect in just one is sufficient to cause NPS in people.
Mutation analysis of LMX1B
gene in nail-patella syndrome patients.