The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.

Hofrichter, Michaela A H; Mojarad, Majid; Doll, Julia; Grimm, Clemens; Eslahi, Atiye; Hosseini, Neda Sadat; Rajati, Mohsen; Müller, Tobias; Dittrich, Marcus; Maroofian, Reza; Haaf, Thomas; Vona, Barbara

Hofrichter, Michaela A H; Mojarad, Majid; Doll, Julia; Grimm, Clemens; Eslahi, Atiye; Hosseini, Neda Sadat; Rajati, Mohsen; Müller, Tobias; Dittrich, Marcus; Maroofian, Reza; Haaf, Thomas; Vona, Barbara.

Afiliação

Hofrichter MAH; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.
Mojarad M; Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Doll J; Medical Genetics Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Grimm C; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.
Eslahi A; Department of Biochemistry, Biocenter, Julius Maximilians University, Würzburg, Germany.
Hosseini NS; Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Rajati M; Medical Genetics Research Center, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Müller T; Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Dittrich M; Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine, Ghaem Educational Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Maroofian R; Institute of Bioinformatics, Julius Maximilians University, Würzburg, Germany.
Haaf T; Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.
Vona B; Institute of Bioinformatics, Julius Maximilians University, Würzburg, Germany.

BMC Med Genet ; 19(1): 81, 2018 05 18.

Article em En | MEDLINE | ID: mdl-29776397

Assuntos

Substituição de Aminoácidos; Arginina/genética; Perda Auditiva/genética; Receptores de Lisoesfingolipídeo/genética; Adolescente; Consanguinidade; Feminino; Humanos; Irã (Geográfico); Masculino; Modelos Moleculares; Linhagem; Ligação Proteica; Receptores de Lisoesfingolipídeo/química; Receptores de Lisoesfingolipídeo/metabolismo; Receptores de Esfingosina-1-Fosfato; Sequenciamento do Exoma/métodos

Palavras-chave

3D modeling; Autosomal recessive non-syndromic hearing loss; DFNB68; Mixed hearing loss; S1PR2; Whole exome sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Arginina / Substituição de Aminoácidos / Receptores de Lisoesfingolipídeo / Perda Auditiva Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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