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965 results on '"Zerres, K."'

33. Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia

Author

Bergmann, C., Senderek, J., Anhuf, D., Thiel, C.T., Ekici, A.B., Poblete-Gutierrez, P., Van Steensel, M., Seelow, D., Nurnberg, G., Schild, H.H., Nurnberg, P., Reis, A., Frank, J., and Zerres, K.

Subjects
Chromosome abnormalities -- Research, Cellular signal transduction -- Research, Exon (Molecular genetics) -- Research, Nail diseases -- Genetic aspects, Biological sciences
Abstract

A genomewide linkage scan is conducted on patients with anonychia, an autosomal recessive disorder, and the R-spondin 4 (RSPO4) gene is analyzed. The results have indicated that mesenchymal-epithelial interactions are crucial in nail development and anonychia is put on the growing list of congenital malformation syndromes caused by Wnt-signaling-pathway defects.

Published
2006

46. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 (ital) mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

Author

Wirth, Brunhilde, Herz, M., Wetter, A., Moskau, S., Hahnen, E., Rudnik-Schoneborn, S., Wienker, T., and Zerres, K.

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Motor neurons -- Paralysis, Muscles -- Abnormalities, Biological sciences
Abstract

Autosomal recessive proximal spinal muscular atrophy (SMA) patients who lack the most common mutation are difficult to diagnose and genetic counseling for them presents problems. The most common mutation is homozygous absence of at least exon 7 of the telomeric survival motor neuron gene (SMN1) (ital). Molecular genetic data have been assembled for 42 independent nondeleted SMA patients. Identification of subtle SMN1 (ital) mutations has been made in SMA patients. It appears that there are other genes, or a gene, responsible for about 4-5% of phenotypes not distinguishable from SMA. The validity of genotype-phenotype correlation was determined. There are implications for genetic counseling.

Published
1999

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