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Results: 1 to 20 of 104

1.

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]
2.

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]
3.

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
4.

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]
5.

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
6.

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
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.

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]
9.

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]
10.

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]
11.

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]
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.

Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B.

Libby RT, Steel KP.

Invest Ophthalmol Vis Sci. 2001 Mar;42(3):770-8.

PMID:
11222540
[PubMed - indexed for MEDLINE]
Free Article
15.

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]
16.

Novel myosin VI isoform is abundantly expressed in retina.

Breckler J, Au K, Cheng J, Hasson T, Burnside B.

Exp Eye Res. 2000 Jan;70(1):121-34.

PMID:
10644428
[PubMed - indexed for MEDLINE]
17.

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]
18.

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
19.

The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A).

Kelley PM, Weston MD, Chen ZY, Orten DJ, Hasson T, Overbeck LD, Pinnt J, Talmadge CB, Ing P, Mooseker MS, Corey D, Sumegi J, Kimberling WJ.

Genomics. 1997 Feb 15;40(1):73-9.

PMID:
9070921
[PubMed - indexed for MEDLINE]
20.

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H.

Hum Genet. 2004 Jul;115(2):149-56. Epub 2004 Jun 2.

PMID:
15221449
[PubMed - indexed for MEDLINE]

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