نتائج البحث - "JOUBERT syndrome"

1

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome

المصدر: Human Mutation

مصطلحات موضوعية: Male, Pathology, Ciliopathies, whole exome sequencing, CBY1, Cerebellum, Eye Abnormalities, Child, Research Articles, Zebrafish, Genetics (clinical), Exome sequencing, 0303 health sciences, Polydactyly, Cilium, Homozygote, 030305 genetics & heredity, Nuclear Proteins, Kidney Diseases, Cystic, Magnetic Resonance Imaging, Smoothened Receptor, Pedigree, 3. Good health, Phenotype, Child, Preschool, primary cilia defect, Female, medicine.symptom, Research Article, medicine.medical_specialty, Adolescent, Biology, Retina, Joubert syndrome, Young Adult, 03 medical and health sciences, Genetics, medicine, Animals, Humans, Abnormalities, Multiple, Cilia, 030304 developmental biology, Cerebellar ataxia, Genetic heterogeneity, Infant, Newborn, Infant, Fibroblasts, medicine.disease, Ciliopathy, ciliopathy, Mutation, Carrier Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff060a6ff69fa03ce10682a61d2879e7Test
https://doi.org/10.1002/humu.24127Test

2

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

المؤلفون: Flora Silberman, Laura A. Devlin, Elisa Molinari, Kathryn White, David H. W. Steel, John A. Sayer, Simon A. Ramsbottom, Charline Henry, Sumaya Alkanderi, Sophie Saunier, Colin G. Miles, Shalabh Srivastava

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: 0301 basic medicine, Male, Medical Sciences, Adolescent, antisense oligonucleotide therapy, Cell Cycle Proteins, Cep290, 030105 genetics & heredity, Kidney, Joubert syndrome, Retina, 03 medical and health sciences, Cystic kidney disease, Mice, Antigens, Neoplasm, Cerebellum, medicine, Animals, Humans, Abnormalities, Multiple, Eye Abnormalities, cystic kidney, Cells, Cultured, Cystic kidney, Multidisciplinary, business.industry, Cilium, Ciliary transition zone, Nuclear Proteins, Epithelial Cells, Exons, Biological Sciences, Kidney Diseases, Cystic, medicine.disease, Exon skipping, 3. Good health, Ciliopathy, Cytoskeletal Proteins, 030104 developmental biology, ciliopathy, Mutation, Cancer research, business, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0126830e44fb3472a8aa56cbccc901fTest
http://europepmc.org/articles/PMC6298104Test

3

Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

المؤلفون: Angela D'Anzi, Giuseppe Lamorte, Angelo L. Vescovi, Iolanda Spasari, Daniela Ferrari, Jessica Rosati, Filomena Altieri, Enza Maria Valente, Laura Bernardini, Silvia Tardivo, Francesco Martello, Gianluigi Mazzoccoli

المساهمون: Altieri, F, D'Anzi, A, Martello, F, Tardivo, S, Spasari, I, Ferrari, D, Bernardini, L, Lamorte, G, Mazzoccoli, G, Valente, E, Vescovi, A, Rosati, J

المصدر: Stem Cell Research
Stem Cell Research, Vol 38, Iss, Pp-(2019)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Joubert syndrome, iPSC, neurodevelopmental disorder, Induced Pluripotent Stem Cells, Mutation, Missense, Biology, medicine.disease_cause, Ciliopathies, Joubert syndrome, Article, Retina, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Cerebellum, medicine, Missense mutation, Basal body, Humans, Abnormalities, Multiple, Eye Abnormalities, lcsh:QH301-705.5, Gene, Mutation, iPSC, Cilium, Homozygote, BIO/13 - BIOLOGIA APPLICATA, Cell Biology, General Medicine, Kidney Diseases, Cystic, medicine.disease, neurodevelopmental disorder, Molecular biology, Induced Pluripotent Stem Cells, Joubert Syndrome, 3. Good health, Adaptor Proteins, Vesicular Transport, 030104 developmental biology, lcsh:Biology (General), 030217 neurology & neurosurgery, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::827efcd243eff2a77b31eea48ecffb30Test
http://europepmc.org/articles/PMC6617992Test

4

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy

المؤلفون: Valérie Cormier-Daire, Marion Lenoir, Geneviève Baujat, Céline Huber, Elise Brischoux-Boucher, Thibaud Dabudyk, Caroline Michot, Lionel Van Maldergem, Emilien Faudi, Juliette Piard

المساهمون: Centre de génétique humaine [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Service de réanimation infantile, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Hôpital Saint-Jacques, Service de radiologie [CHRU Besancon], Laboratoire de Neurosciences Intégratives et Cliniques - UFC (EA 481) (NEURO), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre d'Investigation Clinique de Besançon (Inserm CIC 1431), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])

المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.103823-. ⟨10.1016/j.ejmg.2019.103823⟩

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::931fb6245f59f856782285cf46378affTest
https://hal.archives-ouvertes.fr/hal-03489549Test

5

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

المؤلفون: Kathryn White, Charline Henry, Colin G. Miles, Shalabh Srivastava, Sophie Saunier, Andrew Filby, John A. Sayer, Elisa Molinari, Simon A. Ramsbottom, Sumaya Alkanderi

المصدر: Human Molecular Genetics

مصطلحات موضوعية: 0301 basic medicine, Purmorphamine, Male, Cell Cycle Proteins, 0302 clinical medicine, Cerebellum, Eye Abnormalities, Sonic hedgehog, Child, Genetics (clinical), Polycystic Kidney Diseases, biology, Cilium, General Medicine, Articles, Kidney Diseases, Cystic, 3. Good health, Neoplasm Proteins, Pedigree, Child, Preschool, Signal Transduction, Morpholines, Primary Cell Culture, Joubert syndrome, Retina, 03 medical and health sciences, Cystic kidney disease, Nephronophthisis, Antigens, Neoplasm, Genetics, medicine, Roscovitine, Humans, Abnormalities, Multiple, Cilia, Molecular Biology, Cyclin-dependent kinase 5, Cyclin-Dependent Kinase 5, Epithelial Cells, medicine.disease, Ciliopathies, Ciliopathy, Cytoskeletal Proteins, 030104 developmental biology, Purines, Mutation, Cancer research, biology.protein, Kidney Failure, Chronic, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5036495870f3b3b7ad9acaed87a7d22fTest
http://europepmc.org/articles/PMC5886250Test

6

Microscopy-Based Automated Live Cell Screening for Small Molecules That Affect Ciliation

المؤلفون: Hanqing Liu, Peishan Zhang, Erica A. Golemis, Margret B. Einarson, Anna A. Kiseleva, Vladislav Korobeynikov

المصدر: Frontiers in Genetics, Vol 10 (2019)
Frontiers in Genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51f20c37df675df2be83d4d293917aebTest
https://doi.org/10.3389/fgene.2019.00075Test

7

Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders

المؤلفون: Shalabh Srivastava, Elisa Molinari, Shreya Raman, John A. Sayer

المصدر: Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 5 (2018)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce492f00fbc5d775559a8fbe39b4733aTest
https://doi.org/10.3389/fped.2017.00287Test

8

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

المساهمون: Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Physics, Shanghai University, Shanghai University, Key Laboratory of Stem Cell Biology, Chinese Academy of Sciences [Changchun Branch] (CAS)-Shanghai Jiao Tong University School of Medicine, Plateforme Post-génomique de la Pitié-Salpêtrière (P3S), UMS omique (OMIQUE), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC), National Eye Institute [EY012910], Foundation Fighting Blindness (FFB), French state funds managed by the Agence Nationale de la Recherche within the Investissements d'Avenir program [ANR-11-IDEX-0004-0], Netherlands Organisation for Scientific Research [91209047], Stichting Wetenschappelijk Onderzoek Oogziekenhuis Prof Dr H.J. Flieringa Foundation, Research to Prevent Blindness, Fleming Family Foundation, FFB [CD-CL-0808-0466-CHNO], FFB center [C-CMM-0907-0428-INSERM04], Foundation Voir et Entendre, Fondation Dalloz prix `pour la recherche en ophtalmologie', Ville de Paris and Region Ile de France, Labex LIFESENSES [ANR-10-LABX-65]

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2015, 24 (1), pp.230-242. ⟨10.1093/hmg/ddu441⟩
Human Molecular Genetics, 24, 1, pp. 230-42
Human Molecular Genetics, 2015, 24 (1), pp.230-242. ⟨10.1093/hmg/ddu441⟩
Human Molecular Genetics, 24, 230-42

مصطلحات موضوعية: Retinal degeneration, Adult, Male, Adolescent, Biology, Ciliopathies, Joubert syndrome, Retina, Young Adult, Bardet–Biedl syndrome, Intraflagellar transport, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, medicine, Animals, Humans, Exome, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Molecular Biology, Bardet-Biedl Syndrome, Genetics (clinical), Cells, Cultured, Zebrafish, Adaptor Proteins, Signal Transducing, Cilium, High-Throughput Nucleotide Sequencing, General Medicine, Articles, Sequence Analysis, DNA, medicine.disease, 3. Good health, Pedigree, Rats, Ciliopathy, Cytoskeletal Proteins, Mutation, Female, sense organs, Carrier Proteins, Retinitis Pigmentosa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::723ee8f9a404fdb5b0d5fab9e46ccdf9Test
https://doi.org/10.1093/hmg/ddu441Test

9

Review of Ocular Manifestations of Joubert Syndrome

المؤلفون: Euna B. Koo, Albert Y. Wu, Vinit B. Mahajan, Yang Sun, Tia J. Kowal, Stephanie F Wang, Ke Ning

المصدر: Genes, Vol 9, Iss 12, p 605 (2018)
Genes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e354a774a30fd6459a76e27bb3131bb6Test
https://doi.org/10.3390/genes9120605Test

10

Update on oral-facial-digital syndromes (OFDS)

المؤلفون: Brunella Franco, Christel Thauvin-Robinet

المساهمون: TIGEM (Telethon Institute of Genetics and Medicine), Telethon Institute of Genetics and Medicine = Istituto Telethon di Genetica e Medicina (TIGEM), Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Italian Fondazione Telethon [TGM11CB3 to BF]., Franco, Brunella, Thauvin Robinet, Christel

المصدر: Cilia
Cilia, BioMed Central, 2016, 5 (12), ⟨10.1186/s13630-016-0034-4⟩

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff7127f4db737b96ce497d996b3f97a9Test
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01549073Test

تنقيح النتائج