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Results: 1 to 20 of 24

PubMed Links for Gene (Select 124590)

1.

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.

Imtiaz F, Taibah K, Bin-Khamis G, Kennedy S, Hemidan A, Al-Qahtani F, Tabbara K, Al Mubarak B, Ramzan K, Meyer BF, Al-Owain M.

Mol Vis. 2012;18:1885-94. Epub 2012 Jul 12.

2.

A frameshift mutation in SANS results in atypical Usher syndrome.

Bashir R, Fatima A, Naz S.

Clin Genet. 2010 Dec;78(6):601-3. doi: 10.1111/j.1399-0004.2010.01500.x. No abstract available.

3.

Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome.

Aller E, Jaijo T, Beneyto M, Nájera C, Morera C, Pérez-Garrigues H, Ayuso C, Millán J.

Ophthalmic Genet. 2007 Sep;28(3):151-5.

PMID:
17896313
4.

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.

Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H.

J Mol Med (Berl). 2005 Dec;83(12):1025-32. Epub 2005 Nov 8.

PMID:
16283141
5.

Structure of MyTH4-FERM domains in myosin VIIa tail bound to cargo.

Wu L, Pan L, Wei Z, Zhang M.

Science. 2011 Feb 11;331(6018):757-60. doi: 10.1126/science.1198848.

6.

The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.

Yan J, Pan L, Chen X, Wu L, Zhang M.

Proc Natl Acad Sci U S A. 2010 Mar 2;107(9):4040-5. doi: 10.1073/pnas.0911385107. Epub 2010 Feb 8.

7.

The molecular genetics of Usher syndrome.

Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER.

Clin Genet. 2003 Jun;63(6):431-44. Review.

PMID:
12786748
8.

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D.

Hum Genet. 2002 Apr;110(4):348-50. Epub 2002 Mar 12.

PMID:
11941484
9.

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

Rizel L, Safieh C, Shalev SA, Mezer E, Jabaly-Habib H, Ben-Neriah Z, Chervinsky E, Briscoe D, Ben-Yosef T.

Mol Vis. 2011;17:3548-55. Epub 2011 Dec 30.

10.

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.

Bauß K, Knapp B, Jores P, Roepman R, Kremer H, Wijk EV, Märker T, Wolfrum U.

Hum Mol Genet. 2014 Aug 1;23(15):3923-42. doi: 10.1093/hmg/ddu104. Epub 2014 Mar 8.

11.

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina.

Overlack N, Kilic D, Bauss K, Märker T, Kremer H, van Wijk E, Wolfrum U.

Biochim Biophys Acta. 2011 Oct;1813(10):1883-92. doi: 10.1016/j.bbamcr.2011.05.015. Epub 2011 Jul 13.

12.

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

Schneider E, Märker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Rätzke B, Kohlschmidt N, Grossmann B, Bauss K, Napiontek U, Keilmann A, Bartsch O, Zechner U, Wolfrum U, Haaf T.

Hum Mol Genet. 2009 Feb 15;18(4):655-66. doi: 10.1093/hmg/ddn395. Epub 2008 Nov 20.

13.

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ.

Hum Genet. 2005 Mar;116(4):292-9. Epub 2005 Jan 20.

PMID:
15660226
14.

Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER.

Am J Hum Genet. 2001 Jul;69(1):25-34. Epub 2001 Jun 7.

15.

Usher Syndrome Type I.

Keats BJB, Lentz J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
1999 Dec 10 [updated 2013 Jun 20].

16.

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernández A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millán JM.

Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7. doi: 10.1167/iovs.09-4085. Epub 2009 Aug 13.

PMID:
19683999
17.

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

Baux D, Faugère V, Larrieu L, Le Guédard-Méreuze S, Hamroun D, Béroud C, Malcolm S, Claustres M, Roux AF.

Hum Mutat. 2008 Aug;29(8):E76-87. doi: 10.1002/humu.20780.

PMID:
18484607
18.

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C.

Hum Mol Genet. 2003 Mar 1;12(5):463-71.

19.

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

Yoshimura H, Iwasaki S, Nishio SY, Kumakawa K, Tono T, Kobayashi Y, Sato H, Nagai K, Ishikawa K, Ikezono T, Naito Y, Fukushima K, Oshikawa C, Kimitsuki T, Nakanishi H, Usami S.

PLoS One. 2014 Mar 11;9(3):e90688. doi: 10.1371/journal.pone.0090688. eCollection 2014.

20.

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.

Papal S, Cortese M, Legendre K, Sorusch N, Dragavon J, Sahly I, Shorte S, Wolfrum U, Petit C, El-Amraoui A.

Hum Mol Genet. 2013 Sep 15;22(18):3773-88. doi: 10.1093/hmg/ddt228. Epub 2013 May 23.

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