Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.

Autor: Xue, Junfang¹ (AUTHOR), Xie, Linyi² (AUTHOR), Zheng, Qiuchen² (AUTHOR), Xiong, Fen² (AUTHOR), Wu, Xiedong² (AUTHOR), Fan, Jialin² (AUTHOR), Zhang, Yang² (AUTHOR), Wang, Dayong² (AUTHOR), Zhang, Qiujing² (AUTHOR) zqj99@163.com, Wang, Qiuju² (AUTHOR) wqcr301@vip.sina.com

Publikováno v: BMC Medical Genomics. 10/4/2024, Vol. 17 Issue 1, p1-9. 9p.

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Autor: Santos-Cortez RLP; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA; Center for Children's Surgery, Children's Hospital Colorado (CHCO), Aurora, CO 80045, USA; Philippine National Ear Institute, University of the Philippines (UP) Manila - National Institutes of Health (NIH), Manila 1000, Philippines. Electronic address: regie.santos-cortez@ucdenver.edu., Chiong CM; Philippine National Ear Institute, University of the Philippines (UP) Manila - National Institutes of Health (NIH), Manila 1000, Philippines; National Hearing Screening Reference Center, UP Manila-NIH, Manila 1000, Philippines; Department of Otorhinolaryngology, UP Manila College of Medicine - Philippine General Hospital, Manila 1000, Philippines., Frank DN; Division of Infectious Diseases, Department of Medicine, CUSOM, Aurora, CO 80045, USA., Ryan AF; Division of Otolaryngology, Department of Surgery, University of California San Diego School of Medicine, La Jolla, CA 92093, USA., Giese APJ; Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA., Bootpetch Roberts T; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA., Daly KA; Department of Otolaryngology, Head and Neck Surgery, University of Minnesota, Minneapolis, MN 55455, USA., Steritz MJ; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA., Szeremeta W; Department of Otolaryngology, University of Texas Medical Branch (UTMB), Galveston, TX 77555, USA., Pedro M; Philippine National Ear Institute, University of the Philippines (UP) Manila - National Institutes of Health (NIH), Manila 1000, Philippines., Pine H; Department of Otolaryngology, University of Texas Medical Branch (UTMB), Galveston, TX 77555, USA., Yarza TKL; Philippine National Ear Institute, University of the Philippines (UP) Manila - National Institutes of Health (NIH), Manila 1000, Philippines; National Hearing Screening Reference Center, UP Manila-NIH, Manila 1000, Philippines., Scholes MA; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA; Department of Pediatric Otolaryngology, CHCO, Aurora, CO 80045, USA., Llanes EGDV; Philippine National Ear Institute, University of the Philippines (UP) Manila - National Institutes of Health (NIH), Manila 1000, Philippines; Department of Otorhinolaryngology, UP Manila College of Medicine - Philippine General Hospital, Manila 1000, Philippines., Yousaf S; Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA., Friedman N; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA; Department of Pediatric Otolaryngology, CHCO, Aurora, CO 80045, USA., Tantoco MLC; Philippine National Ear Institute, University of the Philippines (UP) Manila - National Institutes of Health (NIH), Manila 1000, Philippines; Department of Otorhinolaryngology, UP Manila College of Medicine - Philippine General Hospital, Manila 1000, Philippines., Wine TM; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA; Department of Pediatric Otolaryngology, CHCO, Aurora, CO 80045, USA., Labra PJ; Department of Otorhinolaryngology, UP Manila College of Medicine - Philippine General Hospital, Manila 1000, Philippines., Benoit J; Division of Infectious Diseases, Department of Medicine, CUSOM, Aurora, CO 80045, USA., Ruiz AG; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA; Department of Pediatric Otolaryngology, CHCO, Aurora, CO 80045, USA., de la Cruz RAR; Department of Otorhinolaryngology, UP Manila College of Medicine - Philippine General Hospital, Manila 1000, Philippines., Greenlee C; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA; Department of Pediatric Otolaryngology, CHCO, Aurora, CO 80045, USA., Yousaf A; Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan, Punjab, Pakistan., Cardwell J; Department of Medicine, CUSOM, Aurora, CO 80045, USA., Nonato RMA; Department of Otorhinolaryngology, UP Manila College of Medicine - Philippine General Hospital, Manila 1000, Philippines., Ray D; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA., Ong KMC; Department of Otorhinolaryngology, UP Manila College of Medicine - Philippine General Hospital, Manila 1000, Philippines., So E; Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA., Robertson CE; Division of Infectious Diseases, Department of Medicine, CUSOM, Aurora, CO 80045, USA., Dinwiddie J; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA; Department of Pediatric Otolaryngology, CHCO, Aurora, CO 80045, USA., Lagrana-Villagracia SM; Philippine National Ear Institute, University of the Philippines (UP) Manila - National Institutes of Health (NIH), Manila 1000, Philippines., Gubbels SP; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA., Shaikh RS; Institute of Molecular Biology and Biotechnology, Bahauddin Zakariya University, Multan, Punjab, Pakistan., Cass SP; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA., Einarsdottir E; Folkhälsan Institute of Genetics and Molecular Neurology Research Program, University of Helsinki, Helsinki 00014, Finland; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge 141 83, Sweden., Lee NR; USC-Office of Population Studies Foundation and Department of Anthropology, Sociology and History, University of San Carlos, Cebu City 6000, Philippines., Schwartz DA; Department of Medicine, CUSOM, Aurora, CO 80045, USA., Gloria-Cruz TLI; Philippine National Ear Institute, University of the Philippines (UP) Manila - National Institutes of Health (NIH), Manila 1000, Philippines; Department of Otorhinolaryngology, UP Manila College of Medicine - Philippine General Hospital, Manila 1000, Philippines., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Yang IV; Department of Medicine, CUSOM, Aurora, CO 80045, USA., Kere J; Folkhälsan Institute of Genetics and Molecular Neurology Research Program, University of Helsinki, Helsinki 00014, Finland; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge 141 83, Sweden; Department of Medical and Molecular Genetics, King's College London, London SE1 9RT, UK., Abes GT; Philippine National Ear Institute, University of the Philippines (UP) Manila - National Institutes of Health (NIH), Manila 1000, Philippines; Department of Otorhinolaryngology, UP Manila College of Medicine - Philippine General Hospital, Manila 1000, Philippines., Prager JD; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA; Department of Pediatric Otolaryngology, CHCO, Aurora, CO 80045, USA., Riazuddin S; Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA., Chan AL; Philippine National Ear Institute, University of the Philippines (UP) Manila - National Institutes of Health (NIH), Manila 1000, Philippines; Department of Otorhinolaryngology, UP Manila College of Medicine - Philippine General Hospital, Manila 1000, Philippines., Yoon PJ; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA; Department of Pediatric Otolaryngology, CHCO, Aurora, CO 80045, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Cutiongco-de la Paz EM; UP Manila - NIH, Manila 1000, Philippines; Philippine Genome Center, UP, Quezon City 1101, Philippines., Streubel SO; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA; Department of Pediatric Otolaryngology, CHCO, Aurora, CO 80045, USA., Reyes-Quintos MRT; Philippine National Ear Institute, University of the Philippines (UP) Manila - National Institutes of Health (NIH), Manila 1000, Philippines; National Hearing Screening Reference Center, UP Manila-NIH, Manila 1000, Philippines; Department of Otorhinolaryngology, UP Manila College of Medicine - Philippine General Hospital, Manila 1000, Philippines; UP Manila - NIH, Manila 1000, Philippines., Jenkins HA; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA., Mattila P; Department of Otorhinolaryngology, Head & Neck Surgery, University of Helsinki and Helsinki University Hospital, 00029 HUS, Finland., Chan KH; Department of Otolaryngology, University of Colorado School of Medicine (CUSOM), Aurora, CO 80045, USA; Department of Pediatric Otolaryngology, CHCO, Aurora, CO 80045, USA., Mohlke KL; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA., Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Hafrén L; Department of Otorhinolaryngology, Head & Neck Surgery, University of Helsinki and Helsinki University Hospital, 00029 HUS, Finland., Chonmaitree T; Department of Pediatrics, Division of Infectious Diseases, UTMB, Galveston, TX 77555, USA., Sale MM; Center for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, VA 22908, USA; Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, VA 22908, USA; Department of Public Health Sciences, University of Virginia, Charlottesville, VA 22908, USA., Ahmed ZM; Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2018 Nov 01; Vol. 103 (5), pp. 679-690. Date of Electronic Publication: 2018 Oct 25.

Estimation of Lewis Blood Group Status by Fluorescence Melting Curve Analysis in Simultaneous Genotyping of c.385A>T and Fusion Gene in FUT2 and c.59T>G and c.314C>T in FUT3.

Autor: Soejima, Mikiko¹ (AUTHOR), Koda, Yoshiro¹ (AUTHOR) ykoda@med.kurume-u.ac.jp

Publikováno v: Diagnostics (2075-4418). Mar2023, Vol. 13 Issue 5, p931. 10p.

Non-syndromic hearing loss: clinical and diagnostic challenges.

Autor: Vona, Barbara¹ (AUTHOR) barbara.vona@uni-tuebingen.de, Doll, Julia² (AUTHOR), Hofrichter, Michaela A. H.² (AUTHOR), Haaf, Thomas³ (AUTHOR) thomas.haaf@uni-wuerzburg.de

Publikováno v: Medizinische Genetik. Aug2020, p117-129. 13p.

Microbiota Associated With Cholesteatoma Tissue in Chronic Suppurative Otitis Media.

Autor: Frank, Daniel N., Magno, Jose Pedrito M., Velasco, Karen Joyce S., Bootpetch, Tori C., Salud, Jacob Ephraim D., David, Kevin Jer V., Miller, Aaron L., Yee, Eljohn C., Dulnuan, Heather P., Pyles, Richard B., Lacuata, Jan Alexeis C., Arbizo, Jeric L., Kofonow, Jennifer M., Guce, Beatrice, Mendoza, Kevin Michael D., Robertson, Charles E., Ilustre, Gabriel Martin S., Chiong, Alessandra Nadine E., Lu, Shi-Long, Tongol, Erik A.

Publikováno v: Frontiers in Cellular & Infection Microbiology; 4/19/2022, Vol. 12, p1-13, 13p