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Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
Bademci, Guney; Lachgar-Ruiz, María; Deokar, Mangesh; Zafeer, Mohammad Faraz; Abad, Clemer; Yildirim Baylan, Muzeyyen; Ingham, Neil J; Chen, Jing; Sineni, Claire J; Vadgama, Nirmal; Karakikes, Ioannis; Guo, Shengru; Duman, Duygu; Singh, Nitu; Harlalka, Gaurav; Jain, Shirish P; Chioza, Barry A; Walz, Katherina; Steel, Karen P; Nasir, Jamal; Tekin, Mustafa.
Afiliación
  • Bademci G; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136.
  • Lachgar-Ruiz M; Wolfson Centre for Age-Related Diseases, King's College London, London, SE1 1UL, United Kingdom.
  • Deokar M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
  • Zafeer MF; Centro de Investigación Biomédica en Red de Enfermedades Raras, 28034 Madrid, Spain.
  • Abad C; Department of Pharmacology, Rajarshi Shahu College of Pharmacy, 443001 Malvihir, Buldana, India.
  • Yildirim Baylan M; Oriental College of Pharmacy and Research, Oriental University, 453555 Indore, Madhya Pradesh, India.
  • Ingham NJ; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136.
  • Chen J; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136.
  • Sineni CJ; Department of Otorhinolaryngology, Faculty of Medicine, Dicle University, Diyarbakir 21200, Turkey.
  • Vadgama N; Wolfson Centre for Age-Related Diseases, King's College London, London, SE1 1UL, United Kingdom.
  • Karakikes I; Wolfson Centre for Age-Related Diseases, King's College London, London, SE1 1UL, United Kingdom.
  • Guo S; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136.
  • Duman D; Cardiovascular Institute and Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA, 94305.
  • Singh N; Cardiovascular Institute and Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA, 94305.
  • Harlalka G; John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136.
  • Jain SP; Department of Audiology, Faculty of Health Sciences, Ankara University, Ankara 06100, Turkey.
  • Chioza BA; Oriental College of Pharmacy and Research, Oriental University, 453555 Indore, Madhya Pradesh, India.
  • Walz K; Department of Pharmacology, Rajarshi Shahu College of Pharmacy, 443001 Malvihir, Buldana, India.
  • Steel KP; Department of Pharmacology, Rajarshi Shahu College of Pharmacy, 443001 Malvihir, Buldana, India.
  • Nasir J; College of Medicine and Health, University of Exeter Medical School, RD&E NHS Foundation Trust, Exeter, EX2 5DW, United Kingdom.
  • Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136.
Proc Natl Acad Sci U S A ; 119(26): e2204084119, 2022 06 28.
Article en En | MEDLINE | ID: mdl-35727972
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de Superficie Celular / Receptor Notch2 / Pérdida Auditiva Sensorineural Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Receptores de Superficie Celular / Receptor Notch2 / Pérdida Auditiva Sensorineural Tipo de estudio: Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2022 Tipo del documento: Article Pais de publicación: Estados Unidos