Results 21 to 30 of about 334 (109)

Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family [PDF]

Iranian Journal of Basic Medical Sciences, 2016
Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated
Somayeh Reiisi, Mohammad Amin Tabatabaiefar, Mohammad Hosein Sanati, Morteza Hashemzadeh Chaleshtori   +3 more
doaj   +4 more sources

Myosin XVA isoforms participate in the mechanotransduction-dependent remodeling of the actin cytoskeleton in auditory stereocilia [PDF]

Frontiers in Neurology
Auditory hair cells form precise and sensitive staircase-like actin protrusions known as stereocilia. These specialized microvilli detect deflections induced by sound through the activation of mechano-electrical transduction (MET) channels located at ...
Ana I. López-Porras, Ava M. Kruse, Mark T. McClendon, A. Catalina Vélez-Ortega   +3 more
doaj   +2 more sources

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing [PDF]

, 2021
Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of identified variants is uncertain or because biallelic pathogenic variants are not identified ...
Quint, Adina, Rehm, Heidi L., John Pappas, Pappas, John Georgios, Farra, Chantal G., Heidi L. Rehm, Ekstein, Josef, Kevin T. Booth, Tangshewinsirikul, Chayada, Weiden, Tzvi, Morton, Cynthia C., Brownstein, Zippora, Karen B. Avraham, Macarov, Michal, Frees, Kathy, Luo, Minjie, Jun Shen, Nishimura, Carla, Rachel Rabin, Katherine Lafferty, Diana L. Kolbe, Kathy Frees, Adina Quint, Smith, Richard J. H., Cynthia C. Morton, Brownstein, Zippora N., Rabin, Rachel, Lafferty, Katherine, Yefet, Devorah, Carla Nishimura, Booth, Kevin T.A., Chantal Farra, Avraham, Karen B., Kenna, Margaret A., Zippora Brownstein, Michal Macarov, Amr, Sami S., Smith, Richard J.H., Booth, Kevin T., Josef Ekstein, Chayada Tangshewinsirikul, Richard J. H. Smith, Lafferty, Katherine A., Hirsch, Yoel, Yoel Hirsch, Hela Azaiez, Minjie Luo, Kolbe, Diana L., Pappas, John, Andrea M. Oza, Rabin, Rachel Allison, Nishimura, Carla J., Margaret A. Kenna, Shen, Jun, Devorah Yefet, Frees, Kathy L., Oza, Andrea M., Davidov, Bella, Farra, Chantal, Sami S. Amr, Sholem Y. Scher, Scher, Sholem Y., Morton, Cynthia Casson, Tzvi Weiden, Azaiez, Hela, Morton, Cynthia C.; id_orcid, Bella Davidov   +66 more
core   +1 more source

Cy3-ATP labeling of unfixed, permeabilized mouse hair cells

Scientific Reports, 2021
ATP-utilizing enzymes play key roles in hair bundles, the mechanically sensitive organelles of sensory hair cells in the inner ear. We used a fluorescent ATP analog, EDA-ATP-Cy3 (Cy3-ATP), to label ATP-binding proteins in two different preparations of ...
Itallia V. Pacentine, Peter G. Barr-Gillespie   +1 more
doaj   +1 more source

Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss

, 2020
Background: Hearing loss (HL) is the most common sensory disorder in humans, which affects individuals in both inherited and acquired forms. MYO15A and MYO7A gene mutations have a significant role in the development of deafness.
Mahsa Farjami (8377629), Majid Mojarrad (8377644), Mohammad Mehdi Ghasemi (8377635), Malihe Alimardani (8377641), Mozhgan Fathi (8377632), Mohsen Rajati (5237849), Atieh Eslahi (8377638)   +6 more
core   +1 more source

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness. [PDF]

PLoS ONE, 2014
Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity.
Zied Riahi, Crystel Bonnet, Rim Zainine, Malek Louha, Yosra Bouyacoub, Nadia Laroussi, Mariem Chargui, Rym Kefi, Laurence Jonard, Imen Dorboz, Jean-Pierre Hardelin, Sihem Belhaj Salah, Jacqueline Levilliers, Dominique Weil, Kenneth McElreavey, Odile Tanguy Boespflug, Ghazi Besbes, Sonia Abdelhak, Christine Petit   +18 more
doaj   +1 more source

Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant

, 2021
Autosomal recessive nonsyndromic hearing loss 3 (DFNB3) mainly leads to congenital and severe-to-profound hearing impairment, which is caused by variants in MYO15A.
나지나, 정진세, 지헌영, 최재영   +3 more
core   +1 more source

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families

Human Genomics, 2023
Background Hearing loss is a rare hereditary deficit that is rather common among consanguineous populations. Autosomal recessive non-syndromic hearing loss is the predominant form of hearing loss worldwide.
Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tlili   +3 more
doaj   +1 more source

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania [PDF]

PeerJ, 2023
More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian cohort of patients.
Nika Petrova, Inna Tebieva, Vitaly Kadyshev, Zalina Getoeva, Natalia Balinova, Andrey Marakhonov, Tatyana Vasilyeva, Evgeny Ginter, Sergey Kutsev, Rena Zinchenko   +9 more
doaj   +2 more sources

A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss [PDF]

Iranian Journal of Otorhinolaryngology
Introduction: Hearing loss (HL) is the most frequent sensory neurodeficiency, affecting a broad spectrum of individuals globally. Within this context, the role of genetic factors takes center stage, particularly in cases of hereditary HL.
Mostafa Neissi, Adnan Al-Badran, Javad Mohammadi-Asl   +2 more
doaj   +1 more source