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Your search keyword '"Cantalapiedra D"' showing total 25 results
Start Over Author "Cantalapiedra D" Topic mutation, missense
25 results on '"Cantalapiedra D"'

2. Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.

Author

Vallespin E, Avila-Fernandez A, Velez-Monsalve C, Almoguera B, Martinez-Garcia M, Gomez-Dominguez B, Gonzalez-Roubaud C, Cantalapiedra D, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Codon genetics, Humans, Eye Proteins genetics, Leber Congenital Amaurosis genetics, Membrane Proteins genetics, Mutation, Missense, Nerve Tissue Proteins genetics
Published
2010

3. Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.

Author

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Avila-Fernandez A, Vallespin E, Villaverde-Montero C, Gomez-Dominguez B, Auz-Alexandre CL, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Base Sequence, Codon, Humans, Molecular Sequence Data, Sequence Analysis, DNA, ATP-Binding Cassette Transporters genetics, Codon, Nonsense, Corneal Dystrophies, Hereditary genetics, Mutation, Missense, Nucleotides genetics
Published
2009

4. Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.

Author

Auz-Alexandre CL, Vallespin E, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Ainse E, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Amino Acid Substitution, Codon genetics, Humans, Molecular Sequence Data, Blindness congenital, Blindness genetics, Guanylate Cyclase genetics, Mutation, Missense, Optic Atrophy, Hereditary, Leber genetics, Receptors, Cell Surface genetics
Published
2009

5. Gene symbol: ABCA4. Disease: Macular dystrophy.

Author

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Humans, Point Mutation, ATP-Binding Cassette Transporters genetics, Amino Acid Substitution, Codon genetics, Corneal Dystrophies, Hereditary genetics, Mutation, Missense
Published
2008

6. Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.

Author

Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Gimenez-Pardo A, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Humans, Molecular Sequence Data, Codon, Nonsense genetics, Eye Proteins genetics, Genetic Diseases, X-Linked genetics, Mutation, Missense genetics, Retinoschisis genetics
Published
2008

7. Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy.

Author

Villaverde C, Trujillo-Tiebas MJ, Gallego-Merlo J, Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Carballo M, and Ayuso C

Subjects
Amino Acid Substitution, Codon genetics, Humans, Peripherins, Intermediate Filament Proteins genetics, Macular Degeneration genetics, Membrane Glycoproteins genetics, Mutation, Missense, Nerve Tissue Proteins genetics
Published
2007

8. Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa.

Author

Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Martinez MA, Gimenez A, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Amino Acid Sequence genetics, Codon genetics, Humans, Molecular Sequence Data, Eye Proteins genetics, Membrane Proteins genetics, Mutation, Missense genetics, Nerve Tissue Proteins genetics, Retinitis Pigmentosa genetics
Published
2007

9. Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

Author

Lamban JA, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Villaverde C, Avila-Fernandez A, Lopez-Martinez MA, Trujillo-Tiebas MJ, and Ayuso C

Subjects
Amino Acid Sequence genetics, Codon genetics, Humans, Molecular Sequence Data, ATP-Binding Cassette Transporters genetics, Macular Degeneration genetics, Mutation, Missense genetics
Published
2007

10. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Author

Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, and Ayuso C

Subjects
Amino Acid Substitution, Codon, Nonsense, DNA Mutational Analysis, Humans, Macular Degeneration etiology, Macular Degeneration genetics, Male, Eye Proteins genetics, Mutation, Missense, Retinoschisis genetics
Published
2005

11. Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies

Author

Garcia-Hoyos, M., Auz-Alexandre, C. L., Almoguera, B., Cantalapiedra, D., Riveiro-Alvarez, R., Lopez-Martinez, M. A., Gimenez, A., Blanco-Kelly, F., Avila-Fernandez, A., Trujillo-Tiebas, M. J., Garcia-Sandoval, B., Ramos, C., and Carmen Ayuso

Subjects
DNA Mutational Analysis, Mutation, Missense, Visual Acuity, Receptors, Cell Surface, White People, Pedigree, Macular Degeneration, Phenotype, Guanylate Cyclase, Retinal Rod Photoreceptor Cells, Spain, Retinal Cone Photoreceptor Cells, Humans, Codon, Genetic Association Studies, Research Article, Genes, Dominant
Abstract

Purpose Heterozygous mutations around codon 838 of the guanylate cyclase 2D (GUCY2D) gene have recently been associated with more than a third of autosomal dominant macular dystrophy patients. The aim of our study was to evaluate the prevalence of these mutations in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies. Methods Mutation analysis was performed by PCR amplification of exon 13 of GUCY2D and subsequent restriction analysis. To confirm the results, automatic sequencing analysis was also performed. Results Among the 22 unrelated Spanish families included in the study, we found two associated disease mutations at codon 838 of the GUCY2D gene, one of which had not been previously described (p.R838P). This novel mutation exhibited phenotypic variability. Conclusions The prevalence of mutations around codon 838 of GUCY2D in our group of families (9.09%) is lower than that previously reported in other populations. However, the discovery of a novel mutation at codon 838 further suggests that this locus is a mutation hotspot within the GUCY2D gene, and confirms the importance of analyzing this codon to characterize molecularly these autosomal dominant retinal disorders.

Published
2011

12. Human gene mutations. Gene symbol: ABCA4. Disease: Stargardt disease

Author

Ja, Lamban, Riveiro-Alvarez R, Cantalapiedra D, Elena Vallespin, Villaverde C, Avila-Fernandez A, Ma, Lopez-Martinez, Mj, Trujillo-Tiebas, and Ayuso C

Subjects
Macular Degeneration, Molecular Sequence Data, Mutation, Missense, Humans, ATP-Binding Cassette Transporters, Amino Acid Sequence, Codon
Published
2008

13. Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy

Author

Villaverde C, Mj, Trujillo-Tiebas, Gallego-Merlo J, Elena Vallespin, Cantalapiedra D, Riveiro-Alvarez R, Carballo M, and Ayuso C

Subjects
Macular Degeneration, Membrane Glycoproteins, Amino Acid Substitution, Intermediate Filament Proteins, Mutation, Missense, Peripherins, Humans, Nerve Tissue Proteins, Codon
Published
2008

14. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0537

Author

Riveiro-Alvarez R, Mj, Trujillo, Cantalapiedra D, Elena Vallespin, Villaverde C, Valverde D, and Ayuso C

Subjects
Amino Acid Substitution, Mutation, Missense, Humans, ATP-Binding Cassette Transporters, Eye Diseases, Hereditary, Microarray Analysis
Published
2007

16. Gene symbol: NDP. Disease: Norrie disease

Author

Riveiro-Alvarez R, Mj, Trujillo, Gimenez A, Cantalapiedra D, Elena Vallespin, Villaverde C, and Ayuso C

Subjects
Male, Amino Acid Substitution, Mental Retardation, X-Linked, Mutation, Missense, Retinal Detachment, Humans, Eye Diseases, Hereditary, Nerve Tissue Proteins, Deafness, Eye Proteins

17. Gene symbol: CRB1. Disease: early onset retinitis pigmentosa

Author

Vallespin, E., Riveiro-Alvarez, R., Aguirre-Lamban, J., Cantalapiedra, D., Tapias, I., Garcia-Sandoval, B., Trujillo-Tiebas, M. J., and Carmen Ayuso

Subjects
Amino Acid Substitution, Mutation, Missense, Humans, Membrane Proteins, Nerve Tissue Proteins, Age of Onset, Eye Proteins, Retinitis Pigmentosa

18. Gene symbol: CRB1

Author

Vallespin, E., Riveiro-Alvarez, R., Cantalapiedra, D., Aguirre-Lambam, J., Avila-Fernandez, A., Lopez-Gimenez-Pardo, A., Trujillo-Tiebas, M. J., and Carmen Ayuso

Subjects
Amino Acid Substitution, Codon, Nonsense, Mutation, Mutation, Missense, Humans, Membrane Proteins, Nerve Tissue Proteins, Optic Atrophy, Hereditary, Leber, Eye Proteins

19. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0536

Author

Riveiro-Alvarez, R., Trujillo, M. J., Cantalapiedra, D., Vallespin, E., Villaverde, C., Valverde, D., and Carmen Ayuso

Subjects
Amino Acid Substitution, Mutation, Missense, Humans, ATP-Binding Cassette Transporters, Eye Diseases, Hereditary, Microarray Analysis

20. Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile

Author

Riveiro-Alvarez R, Cantalapiedra D, Elena Vallespin, Aguirre-Lamban J, Avila-Fernandez A, Gimenez-Pardo A, Mj, Trujillo-Tiebas, and Ayuso C

Subjects
Codon, Nonsense, Retinoschisis, Molecular Sequence Data, Mutation, Missense, Humans, Genetic Diseases, X-Linked, Eye Proteins

21. Gene symbol: ABCA4. Disease: Macular dystrophy

Author

Aguirre, J., Riveiro-Alvarez, R., Cantalapiedra, D., Vallespin, E., Avila-Fernandez, A., Trujillo-Tiebas, M. J., Villaverde-Montero, C., and Carmen Ayuso

Subjects
Corneal Dystrophies, Hereditary, Alternative Splicing, Macular Degeneration, Amino Acid Substitution, Codon, Nonsense, Mutation, Molecular Sequence Data, Mutation, Missense, Humans, Point Mutation, ATP-Binding Cassette Transporters, Codon, Gene Deletion

22. Human gene mutations. Gene symbol: CRB1. Disease: late onset retinitis pigmentosa

Author

Elena Vallespin, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Ma, Martinez, Gimenez A, Mj, Trujillo-Tiebas, and Ayuso C

Subjects
Molecular Sequence Data, Mutation, Missense, Humans, Membrane Proteins, Nerve Tissue Proteins, Amino Acid Sequence, Codon, Eye Proteins, Retinitis Pigmentosa

23. Gene symbol: ABCA4. Disease: Stargardt disease 1. Accession #Hm0538

Author

Riveiro-Alvarez, R., Aguirre, J., Trujillo, M. J., Cantalapiedra, D., Vallespin, E., Villaverde, C., Valverde, D., and Carmen Ayuso

Subjects
Amino Acid Substitution, Mutation, Missense, Humans, ATP-Binding Cassette Transporters, Eye Diseases, Hereditary, Microarray Analysis

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