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Hearing Disorders: HELP
Articles by Kemal O. Yariz
Based on 3 articles published since 2010
(Why 3 articles?)
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Between 2010 and 2020, K. O. Yariz wrote the following 3 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations. 2015

Bademci, Guney / Lasisi, Akeem / Yariz, Kemal O / Montenegro, Paola / Menendez, Ibis / Vinueza, Rodrigo / Paredes, Rosario / Moreta, Germania / Subasioglu, Asli / Blanton, Susan / Fitoz, Suat / Incesulu, Armagan / Sennaroglu, Levent / Tekin, Mustafa. ·John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. g.bademci@med.miami.edu. · John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. akeemlasisi@gmail.com. · Department of Otorhinolaryngology, College of Medicine, University of Ibadan, Ibadan, Nigeria. akeemlasisi@gmail.com. · John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. koyariz@gmail.com. · Departamento de Genetica, Hospital de Especialidades FFAA, Quito, Ecuador. paom14@gmail.com. · John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. IMenendez1@med.miami.edu. · Departamento de Genetica, Hospital de Especialidades FFAA, Quito, Ecuador. genmolhg1@gmail.com. · Departamento de Genetica, Hospital de Especialidades FFAA, Quito, Ecuador. charoparedes@yahoo.fr. · Departamento de Genetica, Hospital de Especialidades FFAA, Quito, Ecuador. germaniamoreta@yahoo.com. · John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. asuzak78@hotmail.com. · Department of Medical Genetics, Izmir Katip Celebi University, Ataturk Training and Research Hospital, Izmir, Turkey. asuzak78@hotmail.com. · John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. SBlanton@med.miami.edu. · Department of Radiodiagnostics, Ankara University School of Medicine, Ankara, Turkey. sfitoz@yahoo.com. · Department of Otorhinolaryngology, Eskisehir Osmangazi University School of Medicine, Eskisehir, Turkey. armaganincesulu@yahoo.com. · Department of Otorhinolaryngology, Hacettepe University School of Medicine, Ankara, Turkey. lsennaroglu@gmail.com. · John P. Hussmann Institute for Human Genomics and John T. Macdonald Foundation, Department of Human Genetics, Miller school of Medicine, University of Miami, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL, 33136, USA. mtekin@med.miami.edu. ·BMC Med Genet · Pubmed #25928534.

ABSTRACT: BACKGROUND: Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies. METHODS: Three Turkish, one Ecuadorian, and one Nigerian families were included based on either inner ear anomalies detected in probands or X-linked family histories. Exome sequencing and/or Sanger sequencing were performed in order to identify the causative DNA variants in these families. RESULTS: Four novel, c.707A>C (p.(Glu236Ala)), c.772delG (p.(Glu258ArgfsX30)), c.902C>T (p.(Pro301Leu)), c.987T>C (p.(Ile308Thr)), and one previously reported mutation c.346delG (p.(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains of the protein and co-segregated with deafness in all families. CONCLUSIONS: Expanding the spectrum of POU3F4 mutations in different populations along with their associated phenotypes provides better understanding of their clinical importance and will be helpful in clinical evaluation and counseling of the affected individuals.

2 Article Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. 2012

Yariz, Kemal O / Duman, Duygu / Zazo Seco, Celia / Dallman, Julia / Huang, Mingqian / Peters, Theo A / Sirmaci, Asli / Lu, Na / Schraders, Margit / Skromne, Isaac / Oostrik, Jaap / Diaz-Horta, Oscar / Young, Juan I / Tokgoz-Yilmaz, Suna / Konukseven, Ozlem / Shahin, Hashem / Hetterschijt, Lisette / Kanaan, Moien / Oonk, Anne M M / Edwards, Yvonne J K / Li, Huawei / Atalay, Semra / Blanton, Susan / Desmidt, Alexandra A / Liu, Xue-Zhong / Pennings, Ronald J E / Lu, Zhongmin / Chen, Zheng-Yi / Kremer, Hannie / Tekin, Mustafa. ·John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA. ·Am J Hum Genet · Pubmed #23122586.

ABSTRACT: Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs(∗)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Arg183(∗)) and c.5238+5G>A, in a nonconsanguineous family with moderate nonsyndromic sensorineural hearing loss. OTOGL maps to the DFNB84 locus at 12q21.31 and encodes otogelin-like, which has structural similarities to the epithelial-secreted mucin protein family. We demonstrate that Otogl is expressed in the inner ear of vertebrates with a transcription level that is high in embryonic, lower in neonatal, and much lower in adult stages. Otogelin-like is localized to the acellular membranes of the cochlea and the vestibular system and to a variety of inner ear cells located underneath these membranes. Knocking down of otogl with morpholinos in zebrafish leads to sensorineural hearing loss and anatomical changes in the inner ear, supporting that otogelin-like is essential for normal inner ear function. We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss.

3 Article A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. 2012

Yariz, K O / Walsh, T / Akay, H / Duman, D / Akkaynak, A C / King, M-C / Tekin, M. ·Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA. ·Clin Genet · Pubmed #21348867.

ABSTRACT: Hereditary deafness is a genetically heterogeneous phenotype for which more than 100 genomic loci have been identified thus far. By analysis of a consanguineous Palestinian family, GPSM2 was recently discovered to be the cause of autosomal recessive non-syndromic hearing loss DFNB82. Here, we report a second truncating mutation, GPSM2 p.Q562X, identified via autozygosity mapping in a consanguineous Turkish family. This report provides evidence for allelic heterogeneity of GPSM2 and confirms its causative role for non-syndromic deafness.