| Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B. | Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.
Gilmore WB, Hultgren NW, Chadha A, Barocio SB, Zhang J, Kutsyr O, Flores-Bellver M, Canto-Soler MV, Williams DS., Free PMC Article | 02/22/2024 |
| Dispersed DNA variants underlie hearing loss in South Florida's minority population. | Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L, Gonzalez J, Morel Swols D, Duman D, Saridogan T, Ramzan M, Zafeer MF, Liu XZ, Eshraghi AA, Hoffer ME, Angeli SI, Bademci G, Blanton S, Smith C, Telischi FF, Tekin M., Free PMC Article | 01/4/2024 |
| New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family. | New splice site mutations in MYO7A causing Usher syndrome type 1: a study on a Chinese consanguineous family.
Lin Q, Yang D, Shen Z, Zhou X. | 06/3/2023 |
| Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS. | Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS.
Kim YR, Kim HM, Lee B, Baek JI, Lee KY, Park HJ, Kim UK. | 02/4/2023 |
| Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss. | Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.
Xiang Y, Xu C, Xu Y, Zhou L, Tang S, Xu X., Free PMC Article | 01/28/2023 |
| Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease. | Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease.
Roman-Naranjo P, Moleon MDC, Aran I, Escalera-Balsera A, Soto-Varela A, Bächinger D, Gomez-Fiñana M, Eckhard AH, Lopez-Escamez JA. | 02/5/2022 |
| The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A. | The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Mansard L, Baux D, Vaché C, Blanchet C, Meunier I, Willems M, Faugère V, Baudoin C, Moclyn M, Bianchi J, Dollfus H, Gilbert-Dussardier B, Dupin-Deguine D, Bonneau D, Drumare I, Odent S, Zanlonghi X, Claustres M, Koenig M, Kalatzis V, Roux AF., Free PMC Article | 01/15/2022 |
| Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials. | Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L, Blanco-Kelly F, García-García G, Ávila-Fernández A, Jaijo T, Fuster-García C, Perea-Romero I, Zurita-Muñoz O, Jimenez-Rolando B, Carreño E, García-Sandoval B, Millán JM, Ayuso C., Free PMC Article | 01/15/2022 |
| Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families. | Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.
Mei X, Zhou Y, Amjad M, Yang W, Zhu R, Asif M, Hussain HMJ, Yang T, Iqbal F, Hu H., Free PMC Article | 12/11/2021 |
| Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene. | Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene.
Subirà O, Català-Mora J, Díaz-Cascajosa J, Padrón-Pérez N, Claveria MA, Coll-Alsina N, Bonnet C, Petit C, Caminal JM, Prat J., Free PMC Article | 08/28/2021 |
| Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations. | Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Kabahuma RI, Schubert WD, Labuschagne C, Yan D, Blanton SH, Pepper MS, Liu XZ., Free PMC Article | 07/31/2021 |
| Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis. | Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis.
Yamamoto N, Mutai H, Namba K, Goto F, Ogawa K, Matsunaga T. | 06/26/2021 |
| PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT. | PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Khateb S, Mohand-Saïd S, Nassisi M, Bonnet C, Roux AF, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I. | 06/19/2021 |
| Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss. | Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss.
Farjami M, Fathi M, Ghasemi MM, Rajati M, Eslahi A, Alimardani M, Mojarrad M. | 05/8/2021 |
| The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss. | The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.
Lu J, Chen P, Chen T, Li L, Fu X, Yang T, Wu H. | 04/3/2021 |
| Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in USH2A and MYO7A. | Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in USH2A and MYO7A.
Hagag AM, Mitsios A, Gill JS, Nunez Do Rio JM, Theofylaktopoulos V, Houston S, Webster AR, Dubis AM, Moosajee M. | 10/31/2020 |
| Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation. | Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.
He Y, Li J, Zhang M. | 09/19/2020 |
| The compound heterozygous mutations of the MYO7A gene probably underlies the non-syndromic autosomal recessive deafness disease in this family. | [Analysis of MYO7A gene mutation in a family with non-syndromic autosomal recessive deafness].
Wang S, Qin L, Ding K, Hao B, Bian S, Wang Z, Wang Q, Wang X, Zhang W, Liao S. | 11/2/2019 |
| We found that silencing Myo7a by means of RNAi inhibited melanoma cell growth through upregulation of cell cycle regulator p21 (also known as CDKN1A) and suppressed melanoma cell migration and invasion through downregulation of RhoGDI2 (also known as ARHGDIB) | Unconventional myosin VIIA promotes melanoma progression.
Liu Y, Wei X, Guan L, Xu S, Yuan Y, Lv D, He X, Zhan J, Kong Y, Guo J, Zhang H. | 09/7/2019 |
| Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations | Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.
Eandi CM, Dallorto L, Spinetta R, Micieli MP, Vanzetti M, Mariottini A, Passerini I, Torricelli F, Alovisi C, Marchese C., Free PMC Article | 07/6/2019 |
| In summary, four novel mutations were identified in MYO7A gene by using next-generation sequencing. Of these mutations, MYO7A c.2187 + 2_+8 delTGAGCAC and c.2138 T > C (p.L728P) were associated with nonsyndromic hearing loss, while MYO7A p.Tyr560Ser and p.Ala2039Pro were related to the Usher syndrome 1B. | Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B.
Li Y, Su J, Ding C, Yu F, Zhu B. | 05/18/2019 |
| The Russian USH cohort shows both novel and known USH mutations. Clinically the prevalence of USH2 is low (39.28%) and the frequency of MYO7A mutations responsible for USH1B is very high (63.63%, N = 7/11) compared to other cohorts. These seven patients carrying MYO7A mutations are preliminarily eligible for the UshStat(R) gene therapy. | Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
Ivanova ME, Trubilin VN, Atarshchikov DS, Demchinsky AM, Strelnikov VV, Tanas AS, Orlova OM, Machalov AS, Overchenko KV, Markova TV, Golenkova DM, Anoshkin KI, Volodin IV, Zaletaev DV, Pulin AA, Nadelyaeva II, Kalinkin AI, Barh D. | 04/13/2019 |
| Crystall structure shows the interactions between Myo7a protein domains and their partners, harmonin and SANS/ANKS4B. | Myosin 7 and its adaptors link cadherins to actin.
Yu IM, Planelles-Herrero VJ, Sourigues Y, Moussaoui D, Sirkia H, Kikuti C, Stroebel D, Titus MA, Houdusse A., Free PMC Article | 01/19/2019 |
| pathogenic mutation c.2011G>A identified in Chinese family with autosomal dominant hearing loss | Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11.
Li L, Yuan H, Wang H, Guan J, Lan L, Wang D, Zong L, Liu Q, Han B, Huang D, Wang Q. | 09/29/2018 |
| We report here novel homozygous mutations in various genes causing USH, extending the spectrum of causative mutations. We also prove combined sequencing techniques as useful tools to identify novel disease-causing mutations. To the best of our knowledge, this is the largest report of a genetic analysis of Israeli and Palestinian families (n = 74) with different USH subtypes. | The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
Khalaileh A, Abu-Diab A, Ben-Yosef T, Raas-Rothschild A, Lerer I, Alswaiti Y, Chowers I, Banin E, Sharon D, Khateb S. | 08/11/2018 |