Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

James D. Eudy; Michael D. Weston; Su Fang Yao; Denise M. Hoover; Heidi L. Rehm; Manling Ma-Edmonds; Denise Yan; Iqbal Ahmad; Jason J. Cheng; Carmen Ayuso; Cor Cremers; Sandra Davenport; Claes Moller; Catherine B. Talmadge; Kirk W. Beisel; Marta Tamayo; Cynthia C. Morton; Anand Swaroop; William J. Kimberling; Janos Sumegi

doi:10.1126/science.280.5370.1753

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

James D. Eudy, Michael D. Weston, Su Fang Yao, Denise M. Hoover, Heidi L. Rehm, Manling Ma-Edmonds, Denise Yan, Iqbal Ahmad, Jason J. Cheng, Carmen Ayuso, Cor Cremers, Sandra Davenport, Claes Moller, Catherine B. Talmadge, Kirk W. Beisel, Marta Tamayo, Cynthia C. Morton, Anand Swaroop, William J. Kimberling, Janos Sumegi

Instituto de Genética Humana

Producción: Contribución a una revista › Artículo › revisión exhaustiva

336 Citas (Scopus)

Resumen

Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.

Idioma original	Inglés
Páginas (desde-hasta)	1753-1757
Número de páginas	5
Publicación	Science
Volumen	280
N.º	5370
DOI	https://doi.org/10.1126/science.280.5370.1753
Estado	Publicada - 12 jun. 1998

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Eudy, J. D., Weston, M. D., Yao, S. F., Hoover, D. M., Rehm, H. L., Ma-Edmonds, M., Yan, D., Ahmad, I., Cheng, J. J., Ayuso, C., Cremers, C., Davenport, S., Moller, C., Talmadge, C. B., Beisel, K. W., Tamayo, M., Morton, C. C., Swaroop, A., Kimberling, W. J., & Sumegi, J. (1998). Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science, 280(5370), 1753-1757. https://doi.org/10.1126/science.280.5370.1753

@article{7131c06600d74f0988a961c523d84a70,

title = "Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa",

abstract = "Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.",

author = "Eudy, {James D.} and Weston, {Michael D.} and Yao, {Su Fang} and Hoover, {Denise M.} and Rehm, {Heidi L.} and Manling Ma-Edmonds and Denise Yan and Iqbal Ahmad and Cheng, {Jason J.} and Carmen Ayuso and Cor Cremers and Sandra Davenport and Claes Moller and Talmadge, {Catherine B.} and Beisel, {Kirk W.} and Marta Tamayo and Morton, {Cynthia C.} and Anand Swaroop and Kimberling, {William J.} and Janos Sumegi",

year = "1998",

month = jun,

day = "12",

doi = "10.1126/science.280.5370.1753",

language = "English",

volume = "280",

pages = "1753--1757",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "5370",

}

Eudy, JD, Weston, MD, Yao, SF, Hoover, DM, Rehm, HL, Ma-Edmonds, M, Yan, D, Ahmad, I, Cheng, JJ, Ayuso, C, Cremers, C, Davenport, S, Moller, C, Talmadge, CB, Beisel, KW, Tamayo, M, Morton, CC, Swaroop, A, Kimberling, WJ & Sumegi, J 1998, 'Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa', Science, vol. 280, n.º 5370, pp. 1753-1757. https://doi.org/10.1126/science.280.5370.1753

TY - JOUR

T1 - Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

AU - Eudy, James D.

AU - Weston, Michael D.

AU - Yao, Su Fang

AU - Hoover, Denise M.

AU - Rehm, Heidi L.

AU - Ma-Edmonds, Manling

AU - Yan, Denise

AU - Ahmad, Iqbal

AU - Cheng, Jason J.

AU - Ayuso, Carmen

AU - Cremers, Cor

AU - Davenport, Sandra

AU - Moller, Claes

AU - Talmadge, Catherine B.

AU - Beisel, Kirk W.

AU - Tamayo, Marta

AU - Morton, Cynthia C.

AU - Swaroop, Anand

AU - Kimberling, William J.

AU - Sumegi, Janos

PY - 1998/6/12

Y1 - 1998/6/12

N2 - Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.

AB - Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2. Three biologically important mutations in Usher syndrome type IIa patients were identified in a gene (USH2A) isolated from this critical region. The USH2A gene encodes a protein with a predicted size of 171.5 kilodaltons that has laminin epidermal growth factor and fibronectin type III motifs; these motifs are most commonly observed in proteins comprising components of the basal lamina and extracellular matrixes and in cell adhesion molecules.

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AN - SCOPUS:0032511101

SN - 0036-8075

VL - 280

SP - 1753

EP - 1757

JO - Science

JF - Science

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ER -

Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

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