Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.

Soumittra, Nagasamy; Loganathan, Sampath K; Madhavan, Dharanija; Ramprasad, Vedam L; Arokiasamy, Tharigopala; Sumathi, Sundaram; Karthiyayini, Thirumalai; Rachapalli, Sudhir R; Kumaramanickavel, Govindasamy; Casey, Joseph R; Rajagopal, Rama

Soumittra, Nagasamy; Loganathan, Sampath K; Madhavan, Dharanija; Ramprasad, Vedam L; Arokiasamy, Tharigopala; Sumathi, Sundaram; Karthiyayini, Thirumalai; Rachapalli, Sudhir R; Kumaramanickavel, Govindasamy; Casey, Joseph R; Rajagopal, Rama.

Afiliação

Soumittra N; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.
Loganathan SK; Membrane Protein Disease Research Group, Department of Biochemistry, University of Alberta, Edmonton, Alberta, Canada.
Madhavan D; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.
Ramprasad VL; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.
Arokiasamy T; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.
Sumathi S; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.
Karthiyayini T; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.
Rachapalli SR; Cornea Services, Medical Research Foundation, Sankara Nethralaya, Chennai, India.
Kumaramanickavel G; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, India.
Casey JR; Membrane Protein Disease Research Group, Department of Biochemistry, University of Alberta, Edmonton, Alberta, Canada.
Rajagopal R; Cornea Services, Medical Research Foundation, Sankara Nethralaya, Chennai, India.

J Hum Genet ; 59(8): 444-53, 2014 Aug.

Article em En | MEDLINE | ID: mdl-25007886

Assuntos

Proteínas de Transporte de Ânions/genética; Antiporters/genética; Colágeno Tipo VIII/genética; Distrofia Endotelial de Fuchs/genética; Adulto; Idoso; Idoso de 80 Anos ou mais; Animais; Proteínas de Transporte de Ânions/metabolismo; Antiporters/metabolismo; Estudos de Coortes; Colágeno Tipo VIII/metabolismo; Retículo Endoplasmático/metabolismo; Feminino; Heterogeneidade Genética; Células HEK293; Humanos; Masculino; Pessoa de Meia-Idade; Mutação de Sentido Incorreto; Transporte Proteico; Adulto Jovem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Endotelial de Fuchs / Antiporters / Proteínas de Transporte de Ânions / Colágeno Tipo VIII Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Índia

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