المؤلفون: Emilia Boiadjieva Knöpfel, Clara Vilches, Simone M. R. Camargo, Ekaitz Errasti-Murugarren, Andrina Stäubli, Clara Mayayo, Francis L. Munier, Nataliya Miroshnikova, Nadège Poncet, Alexandra Junza, Shomi S. Bhattacharya, Esther Prat, Vanita Berry, Wolfgang Berger, Elise Heon, Anthony T. Moore, Óscar Yanes, Virginia Nunes, Manuel Palacín, Francois Verrey, Barbara Kloeckener-Gruissem

المصدر: Frontiers in Physiology, Vol 10 (2019)

مصطلحات موضوعية: amino acid transporters LAT2 and TAT1, gene expression, cataract, ocular tissues, mouse model, patient screen, Physiology, QP1-981

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fphys.2019.00688/full; https://doaj.org/toc/1664-042X

URL الوصول: https://doaj.org/article/0d94c545a0ee46fbbf4929482b25efc7

المؤلفون: Knöpfel, Emilia Boiadjieva, Vilches, Clara, Camargo, Simone MR, Errasti-Murugarren, Ekaitz, Stäubli, Andrina, Mayayo, Clara, Munier, Francis L, Miroshnikova, Nataliya, Poncet, Nadège, Junza, Alexandra, Bhattacharya, Shomi S, Prat, Esther, Berry, Vanita, Berger, Wolfgang, Heon, Elise, Moore, Anthony T, Yanes, Óscar, Nunes, Virginia, Palacín, Manuel, Verrey, Francois, Kloeckener-Gruissem, Barbara

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Aging, Congenital Structural Anomalies, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, amino acid transporters LAT2 and TAT1, gene expression, cataract, ocular tissues, mouse model, patient screen, Physiology, Medical Physiology, Psychology, Biochemistry and cell biology, Medical physiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8zv5p0pd

المؤلفون: Rafael Artuch, Simone M. R. Camargo, Miguel López de Heredia, Esther Prat, Antonio Zorzano, Aida Ormazabal, Virginia Nunes, Susanna Bodoy, François Verrey, Manuel Palacín, Clara Vilches, Emilia Boiadjieva-Knöpfel

المساهمون: University of Zurich, Nunes, Virginia

المصدر: Journal of the American Society of Nephrology. 29:1624-1635

مصطلحات موضوعية: Male, 0301 basic medicine, Amino Acid Transport System y+, Fusion Regulatory Protein 1, Heavy Chain, Antiporter, 610 Medicine & health, 10052 Institute of Physiology, 03 medical and health sciences, 0302 clinical medicine, medicine, Animals, Uniporter, Mice, Knockout, 2727 Nephrology, Chemistry, Reabsorption, Fusion Regulatory Protein 1, Light Chains, Renal Reabsorption, Transporter, General Medicine, medicine.disease, Cell biology, Basic Research, Amino Acid Transport Systems, Neutral, Amino Acids, Neutral, Kidney Tubules, 030104 developmental biology, Nephrology, 10076 Center for Integrative Human Physiology, Aminoaciduria, Renal physiology, 570 Life sciences, biology, Female, 030217 neurology & neurosurgery, Homeostasis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6cc5ef923bd5718078453d92337a182
https://doi.org/10.1681/asn.2017111205

المؤلفون: Susanna Bodoy, Julia Jando, Emilia Boiadjieva, Manuel Palacín, François Verrey, Clara Vilches, Lalita Oparija, Virginia Nunes

المصدر: ResearcherID

مصطلحات موضوعية: chemistry.chemical_classification, Chemistry, Genetics, Transporter, Double knockout, Molecular Biology, Biochemistry, Biotechnology, Cell biology, Amino acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cc53dc898ecb3747a83af0e1fb50e53
https://doi.org/10.1096/fasebj.29.1_supplement.969.4

المؤلفون: Vanio Mitev, Ekaterina Morgunova, Anelia Boueva, Radka Kaneva, Emilia Boiadjieva, Svetlana Marinova, Olga Beltcheva

المصدر: NDT Plus

مصطلحات موضوعية: Genetics, chemistry.chemical_classification, Transplantation, Mutation, nephrotic syndrome, Case Report, Biology, medicine.disease_cause, medicine.disease, Wt1, Steroid-resistant nephrotic syndrome, Amino acid, chemistry.chemical_compound, Exon, chemistry, Nephrology, SRNS, medicine, Gene, Nephrotic syndrome, Genotyping, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef305c60883e521057e78be2f28f760
https://doi.org/10.1093/ndtplus/sfq173

المؤلفون: Knöpfel EB; Institute of Physiology, University of Zurich, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.; Swiss National Centre of Competence in Research Kidney.CH, University of Zurich, Zurich, Switzerland., Vilches C; Genes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.; U730 and U731, Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain., Camargo SMR; Institute of Physiology, University of Zurich, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland., Errasti-Murugarren E; U730 and U731, Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.; Institute for Research in Biomedicine, The Barcelona Institute of Science and Technology, Barcelona, Spain., Stäubli A; Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland.; Department of Biology, ETH Zurich, Zurich, Switzerland., Mayayo C; Genes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.; Institute for Research in Biomedicine, The Barcelona Institute of Science and Technology, Barcelona, Spain., Munier FL; Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland., Miroshnikova N; Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland., Poncet N; Institute of Physiology, University of Zurich, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland., Junza A; Metabolomics Platform, IISPV, Department of Electronic Engineering, Universitat Rovira i Virgili, Tarragona, Spain.; CIBER of Diabetes and Associated Metabolic Diseases (CIBERDEM), Madrid, Spain., Bhattacharya SS; Andalusian Molecular Biology and Regenerative Medicine Centre - CABIMER, Seville, Spain.; UCL Institute of Ophthalmology, London, United Kingdom., Prat E; Genes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.; U730 and U731, Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.; Genetics Section, Department of Physiological Sciences, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain., Berry V; Andalusian Molecular Biology and Regenerative Medicine Centre - CABIMER, Seville, Spain., Berger W; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.; Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland.; Neuroscience Center Zurich - ZNZ, University of Zurich and ETH Zurich, Zurich, Switzerland., Heon E; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada., Moore AT; Andalusian Molecular Biology and Regenerative Medicine Centre - CABIMER, Seville, Spain.; Moorfields Eye Hospital, London, United Kingdom.; Department of Ophthalmology, School of Medicine, University of California, San Francisco, San Francisco, CA, United States., Yanes Ó; Metabolomics Platform, IISPV, Department of Electronic Engineering, Universitat Rovira i Virgili, Tarragona, Spain.; CIBER of Diabetes and Associated Metabolic Diseases (CIBERDEM), Madrid, Spain., Nunes V; Genes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.; U730 and U731, Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.; Genetics Section, Department of Physiological Sciences, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain., Palacín M; U730 and U731, Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.; Institute for Research in Biomedicine, The Barcelona Institute of Science and Technology, Barcelona, Spain.; Departament de Bioquímica i Biomedicina Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain., Verrey F; Institute of Physiology, University of Zurich, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.; Swiss National Centre of Competence in Research Kidney.CH, University of Zurich, Zurich, Switzerland., Kloeckener-Gruissem B; Institute of Medical Molecular Genetics, University of Zurich, Zurich, Switzerland.; Department of Biology, ETH Zurich, Zurich, Switzerland.

المصدر: Frontiers in physiology [Front Physiol] 2019 Jun 04; Vol. 10, pp. 688. Date of Electronic Publication: 2019 Jun 04 (Print Publication: 2019).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101549006 Publication Model: eCollection Cited Medium: Print ISSN: 1664-042X (Print) Linking ISSN: 1664042X NLM ISO Abbreviation: Front Physiol Subsets: PubMed not MEDLINE