المؤلفون: Poppy Datta (159540), J. Thomas Cribbs (10765801), Seongjin Seo (198289)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Immunology, Developmental Biology, Hematology, Biological Sciences not elsewhere classified, IMPG, Nphp 1 gene-trap, ablation causes nephronophthisis, SNAP, NPHP 1 patients, compartmentalized protein localization, NPHP 1, ciliary transition zone protein, segment development, segment plasma membrane proteins, interphotoreceptor matrix proteogly., photoreceptor maturation period, Cep 290 gene dose results, STX

Relation: https://figshare.com/articles/journal_contribution/Raw_images_/14557192

الاتاحة: https://doi.org/10.1371/journal.pone.0246358.s007

المؤلفون: Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A. English, Elizabeth M. Semler, Jacklyn Mahgerefteh, Artur V. Cideciyan, Tiansen Li, Brian P. Brooks, Meral Gunay-Aygun, Samuel G. Jacobson, Tiziana Cogliati, Christopher J. Westlake, Anand Swaroop

المصدر: Cell Reports, Vol 20, Iss 2, Pp 384-396 (2017)

مصطلحات موضوعية: ciliopathies, LCA, Joubert syndrome, retinal degeneration, organoid, iPSC, Hedgehog signaling, ciliogenesis, ciliary transition zone, primary cilia, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124717308598; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/7871d566c1dd4481b15cfbb020326265

المؤلفون: Timmy Richardo, Inge Kumalasari Sudibjo, Putu Virgina Partha Devanthi, Ivanna Williantarra

المصدر: Malaysian Journal of Fundamental and Applied Sciences. 17:582-592

مصطلحات موضوعية: Coiled coil, General Mathematics, Cilium, Protein domain, General Physics and Astronomy, Ciliary transition zone, General Chemistry, Biology, Ciliopathies, General Biochemistry, Genetics and Molecular Biology, Cell biology, RPGRIP1L, Ciliogenesis, General Agricultural and Biological Sciences, C2 domain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5b45dafa3c1d72aa1fc59b10da629683
https://doi.org/10.11113/mjfas.v17n5.2284

المؤلفون: Yi-Chun Hsiao, Russell J. Ferland, Karina Tuz, Jesús Muñoz-Estrada

المصدر: J Neurosci

مصطلحات موضوعية: MAPK/ERK pathway, MAP Kinase Signaling System, Retina, Mice, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Cerebellum, Cyclic AMP, medicine, Animals, Abnormalities, Multiple, Cilia, Eye Abnormalities, Receptors, Somatostatin, Ciliary membrane, Research Articles, 030304 developmental biology, G protein-coupled receptor, Mice, Knockout, Neurons, 0303 health sciences, Chemistry, General Neuroscience, Cilium, Cell Membrane, Ciliary transition zone, Kidney Diseases, Cystic, medicine.disease, Cell biology, Adaptor Proteins, Vesicular Transport, Ciliopathy, medicine.anatomical_structure, Female, Neuron, Signal transduction, 030217 neurology & neurosurgery, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7578d9431fcb57ef82a2dc33ba1e208c
https://doi.org/10.1523/jneurosci.2993-20.2021

المؤلفون: Elli Emmanouil, Natalia A. Shylo, Dylan Ramrattan, Scott D. Weatherbee

المصدر: Dev Biol

مصطلحات موضوعية: Mutant, Mice, Transgenic, Heterotaxy Syndrome, Biology, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Pulmonary isomerism, Shh signaling, Animals, Hedgehog Proteins, Cilia, Lung, Molecular Biology, 030304 developmental biology, 0303 health sciences, Cilium, Membrane Proteins, Ciliary transition zone, Cell Biology, Cell biology, Heterotaxy, 030217 neurology & neurosurgery, Signal Transduction, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd14461f3016cae60e20f73c7180401
https://doi.org/10.1016/j.ydbio.2019.12.014

المؤلفون: Sarah Brendalen, Seongjin Seo, Poppy Datta, Brandon Hendrickson, Avri Ruffcorn

المصدر: J Biol Chem

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Synaptosomal-Associated Protein 25, Cell Cycle Proteins, Mice, Transgenic, Myosins, Biochemistry, Ciliopathies, Mice, 03 medical and health sciences, chemistry.chemical_compound, Antigens, Neoplasm, medicine, Animals, Humans, Photoreceptor Cells, Cilia, Molecular Biology, Cells, Cultured, 030102 biochemistry & molecular biology, biology, Qa-SNARE Proteins, Chemistry, Cilium, Ciliary transition zone, Molecular Bases of Disease, Retinal, Cell Biology, medicine.disease, Syntaxin 3, Cell biology, Cytoskeletal Proteins, HEK293 Cells, 030104 developmental biology, Membrane protein, Rhodopsin, Mutation, biology.protein, Proteoglycans

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5eaa15470ab405fa1b4df86a8c52188
https://doi.org/10.1074/jbc.ra119.009712

المؤلفون: Karin Vanessa Carias, Rachel Wevrick

المصدر: Journal of Psychiatric Research. 111:145-153

مصطلحات موضوعية: Male, Candidate gene, Adolescent, Autism Spectrum Disorder, Comorbidity, Basement membrane organization, Bioinformatics, behavioral disciplines and activities, Tourette syndrome, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, mental disorders, Humans, Medicine, Child, Biological Psychiatry, Intelligence quotient, business.industry, Ciliary transition zone, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Gene Ontology, Autism spectrum disorder, Child, Preschool, business, 030217 neurology & neurosurgery, Tourette Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::928c9715eff6011cb56591f5c325dac6
https://doi.org/10.1016/j.jpsychires.2019.01.023

المؤلفون: Henry Houlden, Bert B.A. de Vries, Eva Pajkrt, Julie C. Van De Weghe, Caroline C W Klaver, Michael J. Bamshad, Inge B. Mathijssen, Majid Mojarrad, Deborah A. Nickerson, Jennifer C. Dempsey, Elizabeth van Leeuwen, Atieh Eslahi, Dan Doherty, Reza Maroofian, Mahsa Mohajeri, Dorien Lugtenberg, Caitlin V. Miller, Vimla Aggarwal, Aoife M. Waters, Jessica Giordano

المساهمون: Human genetics, Obstetrics and gynaecology, Human Genetics, Obstetrics and Gynaecology, Amsterdam Reproduction & Development (AR&D), APH - Personalized Medicine, APH - Quality of Care, Ophthalmology

المصدر: Human Genetics and Genomics Advances, 2(1):100016. Cell Press
HGG advances
HGG Advances, Vol 2, Iss 1, Pp 100016-(2021)
University of Washington Center for Mendelian Genomics 2021, ' TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes ', Human Genetics and Genomics Advances, vol. 2, no. 1, 100016 . https://doi.org/10.1016/j.xhgg.2020.100016
HGG Advances, 2, 1
HGG Advances, 2

مصطلحات موضوعية: Meckel syndrome, Biology, QH426-470, Ciliopathies, Joubert syndrome, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, primary cilia, medicine, Genetics, retinal dystrophy, Exome, TMEM218, Genetics (clinical), Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Polydactyly, Cilium, cilia, Ciliary transition zone, medicine.disease, Ciliopathy, ciliopathy, Molecular Medicine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9320a2754978790bb5943c5668224570
https://openaccess.sgul.ac.uk/id/eprint/113129/1/1-s2.0-S2666247720300166-main.pdf

المؤلفون: Poppy Datta, J. Thomas Cribbs, Seongjin Seo

المصدر: PLoS ONE, Vol 16, Iss 5, p e0246358 (2021)
PLoS ONE

مصطلحات موضوعية: Photoreceptors, Retinal degeneration, Sensory Receptors, Eye Diseases, Light, Cell Membranes, Mutant, Social Sciences, Artificial Gene Amplification and Extension, Polymerase Chain Reaction, Biochemistry, Photoreceptor cell, Mice, Medical Conditions, Animal Cells, Medicine and Health Sciences, Psychology, Neurons, 0303 health sciences, Multidisciplinary, Messenger RNA, Physics, Electromagnetic Radiation, 030305 genetics & heredity, Retinal Degeneration, Ciliary transition zone, SNAP25, Animal Models, Photoreceptor outer segment, Protein subcellular localization prediction, Cell biology, Nucleic acids, Protein Transport, medicine.anatomical_structure, Experimental Organism Systems, Physical Sciences, RNA splicing, Retinal Disorders, Medicine, Sensory Perception, Cellular Structures and Organelles, Cellular Types, Anatomy, Research Article, Signal Transduction, Ocular Anatomy, Science, Mouse Models, Biology, Research and Analysis Methods, Retina, 03 medical and health sciences, Model Organisms, Ocular System, medicine, Animals, Photoreceptor Cells, Molecular Biology Techniques, Molecular Biology, 030304 developmental biology, Adaptor Proteins, Signal Transducing, Cognitive Psychology, Biology and Life Sciences, Membrane Proteins, Afferent Neurons, Cell Biology, medicine.disease, Ophthalmology, Cytoskeletal Proteins, Membrane protein, Cellular Neuroscience, Mutation, Animal Studies, Cognitive Science, RNA, Perception, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca35ac58271f2025d7d2489c1c9fcf24
https://doaj.org/article/aad0f1acb719432e98c0a24f66eb500c

المؤلفون: Natalia S. Morsci, Jyothi S. Akella, Malan Silva, David H. Hall, William J. Rice, Ken C. Q. Nguyen, Maureen M. Barr

المصدر: Biology of the Cell. 111:95-107

مصطلحات موضوعية: Male, Axoneme, Cell type specific, Microtubules, Article, 03 medical and health sciences, 0302 clinical medicine, Microtubule, Ciliogenesis, medicine, Animals, Cilia, Caenorhabditis elegans, 030304 developmental biology, Neurons, 0303 health sciences, biology, Cilium, Ciliary transition zone, Cell Biology, General Medicine, biology.organism_classification, Phenotype, Cell biology, medicine.anatomical_structure, Structural plasticity, Ultrastructure, Neuron, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84b84e9b72f05660e749d6cab376f983
https://doi.org/10.1111/boc.201800042

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0126830e44fb3472a8aa56cbccc901f
http://europepmc.org/articles/PMC6298104

المؤلفون: Yumei Li, Paul A. Overbeek, Rui Chen, Graeme Mardon, Feng He, Theodore G. Wensel, Antrix Jain, Zhixian Zhang, Michael A. Robichaux, Thanh-Minh T. Nguyen, Ronald Roepman, Aiden Eblimit, Sung Yun Jung, Jun Qin, Rachayata Dharmat

المصدر: Journal of Cell Biology, 217, 2851-2865
Journal of Cell Biology, 217, 8, pp. 2851-2865
The Journal of Cell Biology

مصطلحات موضوعية: 0301 basic medicine, genetic structures, Cell Cycle Proteins, 030105 genetics & heredity, Biology, Ciliopathies, Article, Mice, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Antigens, Neoplasm, Microtubule, Genetic model, medicine, Animals, Eye Proteins, Cytoskeleton, Photoreceptor Connecting Cilium, Research Articles, Adaptor Proteins, Signal Transducing, Cilium, Nuclear Proteins, Signal transducing adaptor protein, Ciliary transition zone, Cell Biology, medicine.disease, eye diseases, Cell biology, DNA-Binding Proteins, Mice, Inbred C57BL, Cytoskeletal Proteins, Protein Transport, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, sense organs, Carrier Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ea896e6c6b39ccde9621cc7ef9404b
https://doi.org/10.1083/jcb.201712117

المؤلفون: Poppy Datta (159540), J. Thomas Cribbs (10765801), Seongjin Seo (198289)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Immunology, Developmental Biology, Hematology, Biological Sciences not elsewhere classified, IMPG, Nphp 1 gene-trap, ablation causes nephronophthisis, SNAP, NPHP 1 patients, compartmentalized protein localization, NPHP 1, ciliary transition zone protein, segment development, segment plasma membrane proteins, interphotoreceptor matrix proteogly., photoreceptor maturation period, Cep 290 gene dose results, STX

Relation: https://figshare.com/articles/figure/Localization_of_OS_resident_proteins_in_i_Nphp1_i_sup_i_gt_gt_i_sup_retinas_/14557180

الاتاحة: https://doi.org/10.1371/journal.pone.0246358.s003

المؤلفون: Poppy Datta (159540), J. Thomas Cribbs (10765801), Seongjin Seo (198289)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Immunology, Developmental Biology, Hematology, Biological Sciences not elsewhere classified, IMPG, Nphp 1 gene-trap, ablation causes nephronophthisis, SNAP, NPHP 1 patients, compartmentalized protein localization, NPHP 1, ciliary transition zone protein, segment development, segment plasma membrane proteins, interphotoreceptor matrix proteogly., photoreceptor maturation period, Cep 290 gene dose results, STX

Relation: https://figshare.com/articles/figure/Validation_of_the_RPGRIP1L_antibody_/14557174

الاتاحة: https://doi.org/10.1371/journal.pone.0246358.s002

المؤلفون: Poppy Datta (159540), J. Thomas Cribbs (10765801), Seongjin Seo (198289)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Immunology, Developmental Biology, Hematology, Biological Sciences not elsewhere classified, IMPG, Nphp 1 gene-trap, ablation causes nephronophthisis, SNAP, NPHP 1 patients, compartmentalized protein localization, NPHP 1, ciliary transition zone protein, segment development, segment plasma membrane proteins, interphotoreceptor matrix proteogly., photoreceptor maturation period, Cep 290 gene dose results, STX

Relation: https://figshare.com/articles/figure/Schematics_of_mouse_i_Nphp1_i_wild-type_and_gene-trap_gt_alleles_/14557171

الاتاحة: https://doi.org/10.1371/journal.pone.0246358.s001

المؤلفون: Poppy Datta (159540), J. Thomas Cribbs (10765801), Seongjin Seo (198289)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Immunology, Developmental Biology, Hematology, Biological Sciences not elsewhere classified, IMPG, Nphp 1 gene-trap, ablation causes nephronophthisis, SNAP, NPHP 1 patients, compartmentalized protein localization, NPHP 1, ciliary transition zone protein, segment development, segment plasma membrane proteins, interphotoreceptor matrix proteogly., photoreceptor maturation period, Cep 290 gene dose results, STX

Relation: https://figshare.com/articles/figure/_i_Nphp1_i_RT-PCR_data_from_10-day-old_i_Nphp1_i_sup_i_i_sup_i_Nphp1_i_sup_i_gt_gt_i_sup_and_i_Nphp1_i_sup_i_gt_i_sup_mouse_retinas_/14557183

الاتاحة: https://doi.org/10.1371/journal.pone.0246358.s004

المؤلفون: Poppy Datta (159540), J. Thomas Cribbs (10765801), Seongjin Seo (198289)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Immunology, Developmental Biology, Hematology, Biological Sciences not elsewhere classified, IMPG, Nphp 1 gene-trap, ablation causes nephronophthisis, SNAP, NPHP 1 patients, compartmentalized protein localization, NPHP 1, ciliary transition zone protein, segment development, segment plasma membrane proteins, interphotoreceptor matrix proteogly., photoreceptor maturation period, Cep 290 gene dose results, STX

Relation: https://figshare.com/articles/dataset/Primers_used_in_this_study_/14557216

الاتاحة: https://doi.org/10.1371/journal.pone.0246358.t001

المؤلفون: Poppy Datta (159540), J. Thomas Cribbs (10765801), Seongjin Seo (198289)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Immunology, Developmental Biology, Hematology, Biological Sciences not elsewhere classified, IMPG, Nphp 1 gene-trap, ablation causes nephronophthisis, SNAP, NPHP 1 patients, compartmentalized protein localization, NPHP 1, ciliary transition zone protein, segment development, segment plasma membrane proteins, interphotoreceptor matrix proteogly., photoreceptor maturation period, Cep 290 gene dose results, STX

Relation: https://figshare.com/articles/figure/Expression_and_localization_of_NPHP1_49_110_deletion_mutants_/14557207

الاتاحة: https://doi.org/10.1371/journal.pone.0246358.g005

المؤلفون: Poppy Datta (159540), J. Thomas Cribbs (10765801), Seongjin Seo (198289)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Immunology, Developmental Biology, Hematology, Biological Sciences not elsewhere classified, IMPG, Nphp 1 gene-trap, ablation causes nephronophthisis, SNAP, NPHP 1 patients, compartmentalized protein localization, NPHP 1, ciliary transition zone protein, segment development, segment plasma membrane proteins, interphotoreceptor matrix proteogly., photoreceptor maturation period, Cep 290 gene dose results, STX

Relation: https://figshare.com/articles/figure/Interaction_of_NPHP1_49_110_with_other_NPHP_proteins_/14557210

الاتاحة: https://doi.org/10.1371/journal.pone.0246358.g006

المؤلفون: Poppy Datta (159540), J. Thomas Cribbs (10765801), Seongjin Seo (198289)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Neuroscience, Immunology, Developmental Biology, Hematology, Biological Sciences not elsewhere classified, IMPG, Nphp 1 gene-trap, ablation causes nephronophthisis, SNAP, NPHP 1 patients, compartmentalized protein localization, NPHP 1, ciliary transition zone protein, segment development, segment plasma membrane proteins, interphotoreceptor matrix proteogly., photoreceptor maturation period, Cep 290 gene dose results, STX

Relation: https://figshare.com/articles/figure/Depletion_of_IFT88_does_not_cause_IS_membrane_protein_accumulation_in_the_OS_/14557189

الاتاحة: https://doi.org/10.1371/journal.pone.0246358.s006