نتائج البحث - "Naiara Akizu"

المساهمون: Ministerio de Economía y Competitividad (España), Fundació La Marató de TV3, Ministerio de Ciencia, Innovación y Universidades (España), National Institutes of Health (US)

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Cell Stem Cell

مصطلحات موضوعية: Microcephaly, Centrosomes, Neurogenesis, viruses, Ciliopathy, Viral Nonstructural Proteins, Microbiology, Article, Zika virus, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Genetics, medicine, Humans, Progenitor cell, Pregnancy Complications, Infectious, Base (exponentiation), 030304 developmental biology, 0303 health sciences, General Immunology and Microbiology, biology, 030306 microbiology, Zika Virus Infection, Cilium, virus diseases, Cell Biology, biology.organism_classification, medicine.disease, Virology, humanities, Ciliopathies, Neural stem cell, Cell biology, Infectious Diseases, Centrosome, Neural progenitor cell, Motile cilium, Molecular Medicine, Female, CNS growth, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89a62c9190dc81c3881d6e53055369c3Test
http://hdl.handle.net/10261/230305Test

6

Enzyme polymerization in nucleotide biosynthesis

المؤلفون: Alana M. O’Reilly, Maya J. Foster, Jeffrey R. Peterson, Naiara Akizu, Jacqueline C. Simonet

المصدر: The FASEB Journal. 34:1-1

مصطلحات موضوعية: chemistry.chemical_classification, Enzyme, Polymerization, Biochemistry, Chemistry, Nucleotide Biosynthesis, Genetics, Molecular Biology, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7c238d73f3f55c5c64be1f69ef13cb97Test
https://doi.org/10.1096/fasebj.2020.34.s1.00649Test

7

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

المصدر: Nature Genetics. 47:809-813

مصطلحات موضوعية: Male, Microcephaly, Adolescent, Mutation, Missense, Biology, Blood–brain barrier, medicine.disease_cause, Article, Consanguinity, Fatty Acids, Omega-3, Genetics, medicine, Animals, Humans, Child, Omega 3 fatty acid, Genetic Association Studies, Zebrafish, Mice, Knockout, chemistry.chemical_classification, Mutation, Symporters, Tumor Suppressor Proteins, Brain, Infant, Fatty acid, Biological Transport, Morphant, Syndrome, Human brain, medicine.disease, Major facilitator superfamily, HEK293 Cells, medicine.anatomical_structure, chemistry, Biochemistry, Blood-Brain Barrier, Case-Control Studies, Child, Preschool, Female, Genes, Lethal, lipids (amino acids, peptides, and proteins)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f82ca55913cf53465ec03077434c48dTest
https://doi.org/10.1038/ng.3311Test

8

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

المؤلفون: Keith K. Vaux, Mahmut Şamil Sağıroğlu, Laila Bastaki, Seth J. Field, Pascale de Lonlay, Sawsan Abdel-Hadi, Lihadh Al-Gazali, Hülya Kayserili, Ali Dursun, Jeffrey D. Esko, Eric Scott, Xin Wang, Faezeh Mojahedi, Ashleigh E. Schaffer, R. Köksal Özgül, Iman G. Mahmoud, Isabelle Desguerre, Matthew D. Buschman, Laila Selim, Samia A. Temtamy, Jean-Laurent Casanova, Murat Gunel, Abdelrahim Abdrabou Sadek, Philip L.S.M. Gordts, Brett Copeland, Mona Aglan, Amira Masri, Maha S. Zaki, Joseph G. Gleeson, Matloob Azam, Naiara Akizu, Vincent Cantagrel, Antoinette Gelot, Basak Rosti, Jennifer L. Silhavy, Esra Dikoglu, Ulrich Müller, Amera El Badawy, Gennaro Napolitano, Stacey Gabriel, Rasim Ozgur Rosti, Jana Schroth, Samira Ismail, Ghada M H Abdel-Salam

المساهمون: İç Hastalıkları, Akizu, Naiara, Cantagrel, Vincent, Zaki, Maha S., Al-Gazali, Lihadh, Wang, Xin, Rosti, Rasim Ozgur, Dikoglu, Esra, Gelot, Antoinette Bernabe, Rosti, Basak, Vaux, Keith K., Scott, Eric M., Silhavy, Jennifer L., Schroth, Jana, Copeland, Brett, Schaffer, Ashleigh E., Gordts, Philip L. S. M., Esko, Jeffrey D., Buschman, Matthew D., Field, Seth J., Napolitano, Gennaro, Abdel-Salam, Ghada M., Ozgul, R Koksal, Saglroglu, Mahmut Samil, Azam, Matloob, Ismail, Samira, Aglan, Mona, Selim, Laila, Mahmoud, Iman G., Abdel-Hadi, Sawsan, Badawy, Amera El, Sadek, Abdelrahim A., Mojahedi, Faezeh, Kayserili, Hulya, Masri, Amira, Bastaki, Laila, Temtamy, Samia, Müller, Ulrich, Desguerre, Isabelle, Casanova, Jean-Laurent, Dursun, Ali, Gunel, Murat, Gabriel, Stacey B., De Lonlay, Pascale, Gleeson, Joseph G.

المصدر: Nature genetics, vol 47, iss 5
Nature genetics

مصطلحات موضوعية: Male, Autophagosome, medicine.disease_cause, Medical and Health Sciences, Lysosomal Storage Disease, Gene Frequency, Cerebellum, Phagosomes, Child, Sorting Nexins, Phagosome, Zebrafish, 2. Zero hunger, Genetics, Mutation, Cerebellar Disease, Syndrome, Biological Sciences, Lysosome, Cell biology, medicine.anatomical_structure, Child, Preschool, Female, Cerebellar atrophy, medicine.symptom, Human, Ataxia, Endosome, Biology, Article, Cerebellar Diseases, Clinical Research, Autophagy, medicine, Animals, Humans, Spinocerebellar Ataxias, Preschool, Spinocerebellar Ataxia, Animal, Sorting Nexin, Infant, Brain Disorders, Lysosomal Storage Diseases, Sorting nexin, Atrophy, Lod Score, Lysosomes, Developmental Biology

وصف الملف: application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7fb536aeb87a30e2cdd2ae132af0efTest
https://doi.org/10.1038/ng.3256Test

9

Biallelic mutations in the 3 ' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

المؤلفون: Jens Lykke-Andersen, Marie-Cécile Nassogne, Nicola Foulds, Susan Blaser, Anne Gregor, Rea M. Lardelli, Stefania Maria Bova, Ashleigh E. Schaffer, Linda Warwick, Masaaki Shiina, Eric Scott, Hülya Kayserili, Murat Gunel, Linda De Meirleir, Ahmet Okay Caglayan, Luigina Spaccini, Kazuhiro Ogata, Ari Widjaja, Naiara Akizu, Naomichi Matsumoto, David Chitayat, Henrik Thybo Christesen, Stephanie Grainger, David K. Manchester, Laura Dean Heckman, Gene W. Yeo, Sebastian Markmiller, Kazuhiro Muramatsu, Rohit Mande, Maha S. Zaki, Zinayida Schlachetzki, Umut Altunoglu, Kimberly A. Aldinger, Maria Kibaek, Joseph G. Gleeson, Justin H Davies, Mary Louise Freckmann, Eric J. Bennett, Jennifer L. Silhavy, Timothy Shaw, Esra Dikoglu, David Traver, Hüseyin Per, Eric L. Van Nostrand, Neil C. Chi, Stacey Gabriel, Enza Maria Valente, Hirotomo Saitsu, Veerle Rc Eggens, Shashank Sathe, Rasim Ozgur Rosti, Christina Fagerberg, Kaya Bilguvar, Alicia Guemez-Gamboa, Frank Baas, Basak Rosti, Damir Musaev, Isaac Marin-Valencia, William B. Dobyns

المساهمون: Reproduction and Genetics, Neurogenetics, Clinical sciences, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Genome Analysis, ARD - Amsterdam Reproduction and Development

المصدر: Nature genetics
Nature Genetics, 49(3), 457-464
Nature Genetics, Vol. 49, no.3, p. 457-464 (2017)
Nature genetics, 49(3), 457-464. Nature Publishing Group
Lardelli, R M, Schaffer, A E, Eggens, V R C, Zaki, M S, Grainger, S, Sathe, S, Van Nostrand, E L, Schlachetzki, Z, Rosti, B, Akizu, N, Scott, E, Silhavy, J L, Heckman, L D, Rosti, R O, Dikoglu, E, Gregor, A, Guemez-Gamboa, A, Musaev, D, Mande, R, Widjaja, A, Shaw, T L, Markmiller, S, Marin-Valencia, I, Davies, J H, De Meirleir, L, Kayserili, H, Altunoglu, U, Freckmann, M L, Warwick, L, Chitayat, D, Blaser, S, Ça Layan, A O, Bilguvar, K, Per, H, Fagerberg, C, Christesen, H B T, Kibæk, M, Aldinger, K A, Manchester, D, Matsumoto, N, Muramatsu, K, Saitsu, H, Shiina, M, Ogata, K, Foulds, N, Dobyns, W B, Chi, N C, Traver, D, Spaccini, L, Bova, S M, Gabriel, S B, Gunel, M, Valente, E M, Nassogne, M C, Bennett, E J, Yeo, G W, Baas, F, Lykke-Andersen, J & Gleeson, J G 2017, ' Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing ', Nature Genetics, vol. 49, no. 3, pp. 457-464 . https://doi.org/10.1038/ng.3762Test
Nature genetics, vol 49, iss 3

مصطلحات موضوعية: 0301 basic medicine, RNA, Messenger/genetics, Exonucleases, Male, Messenger, Exonucleases/genetics, medicine.disease_cause, Medical and Health Sciences, Mice, RNA, Small Nuclear, Neurodegenerative Diseases/genetics, Nuclear protein, Zebrafish, Genetics, Mutation, Neurodegeneration, Nuclear Proteins, TOE1, Neurodegenerative Diseases, deadenylation, Biological Sciences, CAF1Z, SnRNA processing, Female, Exonuclease, congenital, hereditary, and neonatal diseases and abnormalities, Spliceosome, mice, Mutation/genetics, snRNP, Pontocerebellar hypoplasia, Biology, Article, 03 medical and health sciences, Small Nuclear, snRNA, Cerebellar Diseases, medicine, Journal Article, Animals, Humans, RNA, Messenger, Spliceosomes/genetics, Alleles, Cerebellar Diseases/genetics, urogenital system, medicine.disease, zebrafish, Nuclear Proteins/genetics, 030104 developmental biology, biology.protein, Spliceosomes, RNA, mutation, RNA, Small Nuclear/genetics, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91e93af0a10db11f22ffaa9743a63cb4Test
https://hdl.handle.net/1887/114885Test

10

Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia

المصدر: American journal of human genetics, vol 92, iss 3

مصطلحات موضوعية: Male, Molecular Sequence Data, Biology, medicine.disease_cause, Corpus callosum, Medical and Health Sciences, Corpus Callosum, 03 medical and health sciences, chemistry.chemical_compound, Methionine, 0302 clinical medicine, Clinical Research, Report, medicine, Genetics, Humans, Genetic Predisposition to Disease, Exome, Genetics(clinical), Amino Acid Sequence, Codon, Gene, Peptide sequence, Genetics (clinical), Exome sequencing, 030304 developmental biology, Cerebral Cortex, Pediatric, Genetics & Heredity, 0303 health sciences, Mutation, Sequence Analysis, DNA, DNA, Biological Sciences, medicine.anatomical_structure, chemistry, Cerebral cortex, Female, Agenesis of Corpus Callosum, Sequence Analysis, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66b7b4ca715e689d2eddcd96e64afabeTest

تنقيح النتائج