Boeda B., El-Amraoui A., Bahloul A., Goodyear R., Daviet L., Blanchard S., Perfettini I., Fath K.R., Shorte S., Reiners J. et al.

EMBO J. 21:6689-6699(2002) GeneRIF 4647 · Mapped (44)
the shaping of the hair bundle relies on a functional unit composed of myosin VIIa harmonin b and cadherin 23 that is essential to ensure the cohesion of the stereocilia GeneRIF 4647

Wolfrum U.

Adv. Exp. Med. Biol. 533:133-142(2003) GeneRIF 4647 · Mapped (4)
Expressed in retina. Domain structure. Carrier proteins determine cellular function. GeneRIF 4647

Hu P., Xie D.H., Xiao Z.A., Wu W.J., Ge S.L., Hu Z.M., Xia K.

Zhonghua Er Bi Yan Hou Ke Za Zhi 39:538-542(2004) GeneRIF 4647 GAD 131267 · Mapped (4)
Associated with OTHER: hearing loss, sensorineural nonsyndromic; GAD 131267 Observational study of gene-disease association. (HuGE Navigator) GeneRIF 4647

Maubaret C., Griffoin J.M., Arnaud B., Hamel C.

Ophthalmic Genet. 26:25-29(2005) GeneRIF 4647 · Mapped (5)
Mutations in MYO7A is associated with Usher syndrome GeneRIF 4647

Smits B.M., Peters T.A., Mul J.D., Croes H.J., Fransen J.A., Beynon A.J., Guryev V., Plasterk R.H., Cuppen E.

Genetics 170:1887-1896(2005) GeneRIF 4647 · Mapped (4)
MYO7A is the gene associated with the Usher syndromes. GeneRIF 4647

Soni L.E., Warren C.M., Bucci C., Orten D.J., Hasson T.

Cell Motil. Cytoskeleton 62:13-26(2005) GeneRIF 4647 · Mapped (4)
Myosin-VIIa is associated with cathepsin D- and Rab7-positive lysosomes. Association of myosin-VIIa with lysosomes was Rab7 independent. These studies suggest that myosin-VIIa is a lysosome motor. GeneRIF 4647

Di Leva F., D'Adamo P., Cubellis M.V., D'Eustacchio A., Errichiello M., Saulino C., Auletta G., Giannini P., Donaudy F., Ciccodicola A. et al.

Audiol. Neurootol. 11:157-164(2006) GeneRIF 4647 · Mapped (4)
A genome-wide scan found linkage to locus DFNA11. Sequencing of the MYO7A gene in the linked region identified a new missense mutation resulting in an Ala230Val change in the motor domain of the myosin VIIA causing a dominant form of deafness. GeneRIF 4647

Jaijo T., Aller E., Oltra S., Beneyto M., Najera C., Ayuso C., Baiget M., Carballo M., Antinolo G., Valverde D. et al.

Hum. Mutat. 27:290-291(2006) GeneRIF 4647 · Mapped (4)
there is an absence of hot spot mutations in the MYO7A gene and this gene plays a major role in Usher syndrome GeneRIF 4647

Vastinsalo H., Isosomppi J., Aittakorpi A., Sankila E.M.

Mol. Vis. 12:1093-1097(2006) GeneRIF 4647 · Mapped (4)
Three new pathological mutations causing either premature termination of translation or replacement of an evolutionary conserved MYO7A amino acid. GeneRIF 4647

Jaijo T., Aller E., Beneyto M., Najera C., Graziano C., Turchetti D., Seri M., Ayuso C., Baiget M., Moreno F. et al.

J. Med. Genet. 44:e71-e71(2007) GeneRIF 4647 · Mapped (4)
19 different mutations were identified 13 of which were novel. These variants include two nonsense mutations one putative splice site mutation one insertion and five deletions in coding sequence and 10 missense mutations. GeneRIF 4647

Yuan H., Han D.Y., Wang Q.J., Zong L., Zhao Y.L.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 42:422-427(2007) GeneRIF 4647 · Mapped (4)
Significant linkage in DFNA11 markers was found in hereditary deafness. GeneRIF 4647

Boulouiz R., Li Y., Abidi O., Bolz H., Chafik A., Kubisch C., Roub H., Wollnik B., Barakat A.

Mol. Vis. 13:1862-1865(2007) GeneRIF 4647 · Mapped (4)
Missense change p.Y1719C. Homozygous c.1687G>A mutation in last nucleotide of exon 14 predicted to result in aberrant splicing and may lead to loss of MYO7A transcript. P.Y1719C is not disease-causing. Frequent polymorphism in the Moroccan population. GeneRIF 4647

Riazuddin S., Nazli S., Ahmed Z.M., Yang Y., Zulfiqar F., Shaikh R.S., Zafar A.U., Khan S.N., Sabar F., Javid F.T. et al.

Hum. Mutat. 29:502-511(2008) GeneRIF 4647 · Mapped (4)
p.E1716del causes a less severe phenotype (DFNB2) than the USH1B-associated alleles because the resulting protein retains some degree of normal function. GeneRIF 4647

Blanchet C., Roux A.F., Hamel C., Ben Salah S., Artieres F., Faugere V., Uziel A., Mondain M.

Rev Laryngol Otol Rhinol (Bord) 128:137-143(2007) GeneRIF 4647 · Mapped (15)
Molecular genetic analysis was performed in 11 patients and pathogenic mutations were identified in all cases: (mutation in myosin 7A gene in 5 cases). Two new mutations in the MYO7A gene never reported before were found. GeneRIF 4647

Jacobson S.G., Cideciyan A.V., Aleman T.S., Sumaroka A., Roman A.J., Gardner L.M., Prosser H.M., Mishra M., Bech-Hansen N.T., Herrera W. et al.

Hum. Mol. Genet. 17:2405-2415(2008) GeneRIF 4647 · Mapped (22)
Humans with PCDH15 (USH1F) USH2A or GPR98 (USH2C) had a similar retinal phenotype to MYO7A GeneRIF 4647

Watanabe S., Umeki N., Ikebe R., Ikebe M.

Biochemistry 47:9505-9513(2008) GeneRIF 4647 · Mapped (4)
the mutations responsible for USH1B cause the complete loss of the actin-activated ATPase activity or the reduction of duty ratio of myosin VIIa. GeneRIF 4647

Jacobson S.G., Aleman T.S., Sumaroka A., Cideciyan A.V., Roman A.J., Windsor E.A., Schwartz S.B., Rehm H.L., Kimberling W.J.

Invest. Ophthalmol. Vis. Sci. 50:1886-1894(2009) GeneRIF 4647 · Mapped (4)
Patients with MYO7A-USH1B can have regions of structurally and functionally normal retina with definable transitions to severe laminopathy and visual loss. GeneRIF 4647

Su M.C., Yang J.J., Su C.C., Hsin C.H., Li S.Y.

Int. J. Pediatr. Otorhinolaryngol. 73:811-815(2009) GeneRIF 4647 · Mapped (4)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 4647

Fernandez L.P., Milne R.L., Pita G., Floristan U., Sendagorta E., Feito M., Aviles J.A., Martin-Gonzalez M., Lazaro P., Benitez J. et al.

Exp. Dermatol. 18:634-642(2009) GeneRIF 4647 · Mapped (39)
Observational study of gene-disease association. (HuGE Navigator); There is an association with the variant S1666C (rs2276288) in the MYO7A gene and the risk of developing malignant melanoma. GeneRIF 4647

Gibbs D., Cideciyan A.V., Jacobson S.G., Williams D.S.

Invest. Ophthalmol. Vis. Sci. 50:4386-4393(2009) GeneRIF 4647 · Mapped (14)
The data indicate that melanosomes in the retinal pigment epithelium and choroid are the dominant source of NIR-autofluorescence from the posterior region of the eye with ushers syndrome due to MYO7A mutation. GeneRIF 4647

Ammar-Khodja F., Faugere V., Baux D., Giannesini C., Leonard S., Makrelouf M., Malek R., Djennaoui D., Zenati A., Claustres M. et al.

Eur J Med Genet 52:174-179(2009) GeneRIF 4647 · Mapped (7)
Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 DFNB2 DFNB12 and DFNB23. GeneRIF 4647

Jaijo T., Aller E., Garcia-Garcia G., Aparisi M.J., Bernal S., Avila-Fernandez A., Barragan I., Baiget M., Ayuso C., Antinolo G. et al.

Invest. Ophthalmol. Vis. Sci. 51:1311-1317(2010) GeneRIF 4647 · Mapped (25)
Observational study of gene-disease association and genetic testing. (HuGE Navigator) GeneRIF 4647

Hildebrand M.S., Thorne N.P., Bromhead C.J., Kahrizi K., Webster J.A., Fattahi Z., Bataejad M., Kimberling W.J., Stephan D., Najmabadi H. et al.

Clin. Genet. 77:563-571(2010) GeneRIF 4647 · Mapped (4)
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation GeneRIF 4647

Joslyn G., Ravindranathan A., Brush G., Schuckit M., White R.L.

Alcohol. Clin. Exp. Res. 34:800-812(2010) GeneRIF 4647 · Mapped (673)
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) GeneRIF 4647

Booij J.C., Bakker A., Kulumbetova J., Moutaoukil Y., Smeets B., Verheij J., Kroes H.Y., Klaver C.C., van Schooneveld M., Bergen A.A. et al.

Ophthalmology 118:160-167.e1-3(2011) GeneRIF 4647 · Mapped (315)
Observational study of genetic testing. (HuGE Navigator) GeneRIF 4647