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Results: 1 to 20 of 112

1.

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozet F, Philippe H, Abitbol M, Petit C.

Proc Natl Acad Sci U S A. 1996 Apr 16;93(8):3232-7.

PMID:
8622919
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells.

el-Amraoui A, Sahly I, Picaud S, Sahel J, Abitbol M, Petit C.

Hum Mol Genet. 1996 Aug;5(8):1171-8.

PMID:
8842737
[PubMed - indexed for MEDLINE]
Free Article
3.

Defective myosin VIIA gene responsible for Usher syndrome type 1B.

Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, et al.

Nature. 1995 Mar 2;374(6517):60-1.

PMID:
7870171
[PubMed - indexed for MEDLINE]
4.

Molecular cloning and domain structure of human myosin-VIIa, the gene product defective in Usher syndrome 1B.

Chen ZY, Hasson T, Kelley PM, Schwender BJ, Schwartz MF, Ramakrishnan M, Kimberling WJ, Mooseker MS, Corey DP.

Genomics. 1996 Sep 15;36(3):440-8.

PMID:
8884267
[PubMed - indexed for MEDLINE]
5.

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H, Petit C.

Nat Genet. 1997 Jun;16(2):191-3.

PMID:
9171833
[PubMed - indexed for MEDLINE]
6.

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

Lévy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D.

Hum Mol Genet. 1997 Jan;6(1):111-6.

PMID:
9002678
[PubMed - indexed for MEDLINE]
Free Article
7.

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS.

Proc Natl Acad Sci U S A. 1995 Oct 10;92(21):9815-9.

PMID:
7568224
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Characterization of the human and mouse unconventional myosin XV genes responsible for hereditary deafness DFNB3 and shaker 2.

Liang Y, Wang A, Belyantseva IA, Anderson DW, Probst FJ, Barber TD, Miller W, Touchman JW, Jin L, Sullivan SL, Sellers JR, Camper SA, Lloyd RV, Kachar B, Friedman TB, Fridell RA.

Genomics. 1999 Nov 1;61(3):243-58.

PMID:
10552926
[PubMed - indexed for MEDLINE]
9.

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB.

Hum Mutat. 2008 Apr;29(4):502-11. doi: 10.1002/humu.20677.

PMID:
18181211
[PubMed - indexed for MEDLINE]
10.

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B.

Am J Hum Genet. 1997 Oct;61(4):813-21.

PMID:
9382091
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Mutation analysis of the mouse myosin VIIA deafness gene.

Mburu P, Liu XZ, Walsh J, Saw D Jr, Cope MJ, Gibson F, Kendrick-Jones J, Steel KP, Brown SD.

Genes Funct. 1997 Jun;1(3):191-203.

PMID:
9680294
[PubMed - indexed for MEDLINE]
12.

Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells.

Liu X, Vansant G, Udovichenko IP, Wolfrum U, Williams DS.

Cell Motil Cytoskeleton. 1997;37(3):240-52.

PMID:
9227854
[PubMed - indexed for MEDLINE]
13.

Expression of myosin VIIA during mouse embryogenesis.

Sahly I, El-Amraoui A, Abitbol M, Petit C, Dufier JL.

Anat Embryol (Berl). 1997 Aug;196(2):159-70.

PMID:
9278160
[PubMed - indexed for MEDLINE]
14.

Effects of shaker-1 mutations on myosin-VIIa protein and mRNA expression.

Hasson T, Walsh J, Cable J, Mooseker MS, Brown SD, Steel KP.

Cell Motil Cytoskeleton. 1997;37(2):127-38.

PMID:
9186010
[PubMed - indexed for MEDLINE]
15.

Erratum: analysis of DNA elements that modulate myosin VIIa expression in humans.

Orten DJ, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ.

Hum Mutat. 2000 Jan;15(1):114-5.

PMID:
10612833
[PubMed - indexed for MEDLINE]
16.

Analysis of DNA elements that modulate myosin VIIA expression in humans.

Orten DJ, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ.

Hum Mutat. 1999 Oct;14(4):354. Corrected and republished in: Hum Mutat. 2000 Jan;15(1):114-5.

PMID:
10502787
[PubMed - indexed for MEDLINE]
17.

Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness.

Ernest S, Rauch GJ, Haffter P, Geisler R, Petit C, Nicolson T.

Hum Mol Genet. 2000 Sep 1;9(14):2189-96.

PMID:
10958658
[PubMed - indexed for MEDLINE]
Free Article
18.

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.

Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U.

Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review.

PMID:
16545802
[PubMed - indexed for MEDLINE]
19.

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness.

Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD.

Nat Genet. 1997 Jun;16(2):188-90.

PMID:
9171832
[PubMed - indexed for MEDLINE]
20.

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C.

Nat Genet. 2000 Sep;26(1):51-5.

PMID:
10973247
[PubMed - indexed for MEDLINE]
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