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.

Afiliación

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 en En | MEDLINE | ID: mdl-25007886

Asunto(s)

Proteínas de Transporte de Anión/genética; Antiportadores/genética; Colágeno Tipo VIII/genética; Distrofia Endotelial de Fuchs/genética; Adulto; Anciano; Anciano de 80 o más Años; Animales; Proteínas de Transporte de Anión/metabolismo; Antiportadores/metabolismo; Estudios de Cohortes; Colágeno Tipo VIII/metabolismo; Retículo Endoplásmico/metabolismo; Femenino; Heterogeneidad Genética; Células HEK293; Humanos; Masculino; Persona de Mediana Edad; Mutación Missense; Transporte de Proteínas; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Distrofia Endotelial de Fuchs / Antiportadores / Proteínas de Transporte de Anión / Colágeno Tipo VIII Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: India

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