Abstract
The LMX1B gene, encoding a protein involved in limb, kidney and eye development, is mutated in patients affected by Nail-Patella syndrome. Inter- and intrafamilial variability is common in this disorder for skeletal abnormalities, presence and severity of nephropathy and ocular anomalies. Phenotypic variability might depend on interactions of the LMX1B causative gene with other genes during development of both kidney and eye, which might act as modifier genes. Results are presented on the interaction between LMX1B and PAX2 proteins, obtained by both direct yeast two-hybrid assay and coimmunoprecipitation. Such interaction provides support to further studies on pathways underlying important developmental processes.
| Original language | English |
|---|---|
| Pages (from-to) | 789-792 |
| Number of pages | 4 |
| Journal | European Journal of Human Genetics |
| Volume | 13 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jun 2005 |
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Keywords
- LMX1B
- Modifier gene
- Nail-Patella syndrome
- PAX2
- Phenotype variability
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome. / Marini, Monica; Giacopelli, Francesca; Seri, Marco; Ravazzolo, Roberto.
In: European Journal of Human Genetics, Vol. 13, No. 6, 06.2005, p. 789-792.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome
AU - Marini, Monica
AU - Giacopelli, Francesca
AU - Seri, Marco
AU - Ravazzolo, Roberto
PY - 2005/6
Y1 - 2005/6
N2 - The LMX1B gene, encoding a protein involved in limb, kidney and eye development, is mutated in patients affected by Nail-Patella syndrome. Inter- and intrafamilial variability is common in this disorder for skeletal abnormalities, presence and severity of nephropathy and ocular anomalies. Phenotypic variability might depend on interactions of the LMX1B causative gene with other genes during development of both kidney and eye, which might act as modifier genes. Results are presented on the interaction between LMX1B and PAX2 proteins, obtained by both direct yeast two-hybrid assay and coimmunoprecipitation. Such interaction provides support to further studies on pathways underlying important developmental processes.
AB - The LMX1B gene, encoding a protein involved in limb, kidney and eye development, is mutated in patients affected by Nail-Patella syndrome. Inter- and intrafamilial variability is common in this disorder for skeletal abnormalities, presence and severity of nephropathy and ocular anomalies. Phenotypic variability might depend on interactions of the LMX1B causative gene with other genes during development of both kidney and eye, which might act as modifier genes. Results are presented on the interaction between LMX1B and PAX2 proteins, obtained by both direct yeast two-hybrid assay and coimmunoprecipitation. Such interaction provides support to further studies on pathways underlying important developmental processes.
KW - LMX1B
KW - Modifier gene
KW - Nail-Patella syndrome
KW - PAX2
KW - Phenotype variability
UR - http://www.scopus.com/inward/record.url?scp=20544435690&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=20544435690&partnerID=8YFLogxK
U2 - 10.1038/sj.ejhg.5201405
DO - 10.1038/sj.ejhg.5201405
M3 - Article
C2 - 15785774
AN - SCOPUS:20544435690
VL - 13
SP - 789
EP - 792
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 6
ER -