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1. Full Text Ciliopathy: Alström Syndrome
by Tsang, Stephen H and Aycinena, Alicia R. P and Sharma, Tarun
12/2018, Advances in Experimental Medicine and Biology, ISBN 9783319950457, Volume 1085
Ciliopathy | Alström syndrome
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2. Full Text Ciliopathy: Bardet-Biedl Syndrome
by Tsang, Stephen H and Aycinena, Alicia R. P and Sharma, Tarun
12/2018, Advances in Experimental Medicine and Biology, ISBN 9783319950457, Volume 1085
Ciliopathy | Bardet-Biedl syndrome
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3. Full Text Ciliopathy: Sjögren-Larsson Syndrome
by Tsang, Stephen H and Aycinena, Alicia R. P and Sharma, Tarun
12/2018, Advances in Experimental Medicine and Biology, ISBN 9783319950457, Volume 1085
Ciliopathy | Sjögren-Larsson syndrome
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4. Full Text Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells
by May-Simera, Helen Louise and Wan, Qin and Jha, Balendu Shekhar and Hartford, Juliet and Khristov, Vladimir and Dejene, Roba and Chang, Justin and Patnaik, Sarita and Lu, Quanlong and Banerjee, Poulomi and Silver, Jason and Insinna-Kettenhofen, Christine and Patel, Dishita and Lotfi, Mostafa and Malicdan, May and Hotaling, Nathan and Maminishkis, Arvydas and Sridharan, Rupa and Brooks, Brian and Miyagishima, Kiyoharu and Gunay-Aygun, Meral and Pal, Rajarshi and Westlake, Christopher and Miller, Sheldon and Sharma, Ruchi and Bharti, Kapil
Cell reports (Cambridge), ISSN 2211-1247, 01/2018, Volume 22, Issue 1, pp. 189 - 205
primary cilium | cell maturation | RPE | apical-basal polarity | cilia | retinal pigment epithelium | WNT signaling | CEP290 | ciliopathy | iPS cells | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Induced Pluripotent Stem Cells - pathology | Ciliopathies - therapy | Retinal Pigment Epithelium - metabolism | Cilia - pathology | Retinal Degeneration - genetics | Induced Pluripotent Stem Cells - transplantation | Retinal Degeneration - metabolism | Cilia - metabolism | Cilia - genetics | Mice, Knockout | Protein Kinase C-delta - metabolism | Respiratory Mucosa - pathology | Ciliopathies - genetics | Retinal Pigment Epithelium - pathology | Animals | Ciliopathies - metabolism | Retinal Degeneration - therapy | Mice | Respiratory Mucosa - metabolism | Retinal Degeneration - pathology | Protein Kinase C-delta - genetics | Ciliopathies - pathology | Induced Pluripotent Stem Cells - metabolism | Index Medicus
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5. Full Text Ciliopathy: Usher Syndrome
by Tsang, Stephen H and Aycinena, Alicia R. P and Sharma, Tarun
12/2018, Advances in Experimental Medicine and Biology, ISBN 9783319950457, Volume 1085
Ciliopathy | Retinitis pigmentosa | Usher syndrome
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6. Full Text Ciliary dysfunction in adult mice results in slowly progressing cystic kidney disease and disrupts energy homeostasis
by Davenport, JR and Kale, A and Sharma, N and Yoder, BK
Microscopy and microanalysis, ISSN 1431-9276, 08/2008, Volume 14, Issue S2, pp. 1482 - 1483
Ciliopathies
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7. Full Text Structural Investigations of Human Cilia from Normal and Primary Ciliary Dyskinesia Patients
by O'Toole, ET and Porter, ME and Ostrowski, LE
Microscopy and microanalysis, ISSN 1431-9276, 08/2008, Volume 14, Issue S2, pp. 1476 - 1477
Ciliopathies
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8. Full Text Structural study of multiple microtubule types by cryo-electron microscopy
by Sui, H and Downing, KH
Microscopy and microanalysis, ISSN 1431-9276, 08/2008, Volume 14, Issue S2, pp. 1478 - 1479
Ciliopathies
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9. Full Text Cilia have Multiple Roles in the Development of the Vertebrate Left-Right Axis
by Brueckner, M and McGrath, J and Makova, S
Microscopy and microanalysis, ISSN 1431-9276, 08/2008, Volume 14, Issue S2, pp. 1480 - 1481
Ciliopathies
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10. Full Text Human Ciliopathies: An Overview of The First One Hundred Years
by Carson, JL
Microscopy and microanalysis, ISSN 1431-9276, 08/2008, Volume 14, Issue S2, pp. 146 - 147
Ciliopathies
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11. Full Text Cilia, neural development and disease
by Suciu, Sarah K and Caspary, Tamara
Seminars in cell & developmental biology, ISSN 1084-9521, 07/2020
Index Medicus
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12. Full Text FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice
by Schrauwen, Isabelle and Giese, Arnaud PJ and Aziz, Abdul and Lafont, David Tino and Chakchouk, Imen and Santos‐Cortez, Regie Lyn P and Lee, Kwanghyuk and Acharya, Anushree and Khan, Falak Sher and Ullah, Asmat and Nickerson, Deborah A and Bamshad, Michael J and Ali, Ghazanfar and Riazuddin, Saima and Ansar, Muhammad and Ahmad, Wasim and Ahmed, Zubair M and Leal, Suzanne M
Journal of bone and mineral research, ISSN 0884-0431, 02/2019, Volume 34, Issue 2, pp. 375 - 386
POSTAXIAL POLYDACTYLY | CILIOPATHY | FAM92A | CHIBBY1 | PAPA | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Humans | Male | Polydactyly - metabolism | Exome | Ciliopathies - genetics | Female | Toes - pathology | Fingers - abnormalities | Nuclear Proteins - genetics | Polydactyly - genetics | Nuclear Proteins - metabolism | Codon, Nonsense | Fingers - pathology | Mice, Knockout | Whole Exome Sequencing | Proteins - genetics | Carrier Proteins - genetics | Homozygote | Animals | Carrier Proteins - metabolism | Ciliopathies - metabolism | Proteins - metabolism | Mice | Toes - abnormalities | Polydactyly - pathology | Ciliopathies - pathology | Genetic aspects | Genetic disorders | Nucleotide sequencing | Analysis | DNA sequencing | Phenotypes | Metatarsal | Genotyping | Polydactyly | Cilia | Limb buds | Linkage analysis | Index Medicus
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13. Full Text An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
by Boldt, K and Reeuwijk, J. van and Lu, Q and Koutroumpas, K and Nguyen, T.T.M and Texier, Y and Beersum, S.E.C. van and Horn, N and Willer, J.R and Mans, D.A and Dougherty, G and Lamers, I.J and Coene, K.L.M and Arts, H.H and Betts, M.J and Beyer, T and Bolat, E and Gloeckner, C.J and Haidari, K and Hetterschijt, E.C and Iaconis, D and Jenkins, D and Klose, F and Knapp, B and Latour, B.L and Letteboer, S.J.F and Marcelis, C.L.M and Mitic, D and Morleo, M and Oud, M.M and Riemersma, M and Rix, S and Terhal, P.A and Toedt, G and Dam, T.J.P. van and Vrieze, E. de and Wissinger, Y and Wu, K.M and Apic, G and Beales, P.L and Blacque, O.E and Gibson, T.J and Huynen, M.A and Katsanis, N and Kremer, H and Omran, H and WIjk, E. van and Wolfrum, U and Kepes, F and Davis, E.E and Franco, B and Giles, R.H and Ueffing, M and Russell, R.B and Roepman, R and UK10K Rare Dis Grp and UK10K Rare Diseases Group
Nature communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, pp. 11491 - 11491
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Humans | Proteins - isolation & purification | Protein Interaction Maps | Spine - abnormalities | Ciliopathies - genetics | Muscle Hypotonia - therapy | DNA Mutational Analysis | Systems Analysis | Mass Spectrometry | HEK293 Cells | Fibroblasts | Dwarfism - pathology | Proteomics - methods | Spine - pathology | Chromatography, Affinity - methods | Molecular Targeted Therapy - methods | Ciliopathies - therapy | Datasets as Topic | Muscle Hypotonia - genetics | Cilia - metabolism | Proteins - genetics | Dwarfism - genetics | Muscle Hypotonia - pathology | Protein Interaction Mapping - methods | Dwarfism - therapy | Proteins - metabolism | Biological Transport - physiology | Ciliopathies - pathology | Index Medicus
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14. Full Text Cell-Based Therapy Restores Olfactory Function in an Inducible Model of Hyposmia
by Kurtenbach, Sarah and Goss, Garrett M and Goncalves, Stefania and Choi, Rhea and Hare, Joshua M and Chaudhari, Nirupa and Goldstein, Bradley J
Stem cell reports, ISSN 2213-6711, 06/2019, Volume 12, Issue 6, pp. 1354 - 1365
neuron | stem cells | olfaction | anosmia | ciliopathy | Cell & Tissue Engineering | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Olfaction Disorders - genetics | Ciliopathies - therapy | Tumor Suppressor Proteins - metabolism | Olfaction Disorders - pathology | Benzilates | Mice, Transgenic | Neural Stem Cells - pathology | Olfactory Receptor Neurons - metabolism | Smell | Olfaction Disorders - therapy | Stem Cell Transplantation | Ciliopathies - genetics | Animals | Ciliopathies - metabolism | Olfactory Receptor Neurons - pathology | Olfaction Disorders - metabolism | Tumor Suppressor Proteins - genetics | Neural Stem Cells - transplantation | Neural Stem Cells - metabolism | Ciliopathies - pathology | Index Medicus
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15. Full Text Genes and molecular pathways underpinning ciliopathies
by Reiter, Jeremy F and Leroux, Michel R
Nature reviews. Molecular cell biology, ISSN 1471-0072, 09/2017, Volume 18, Issue 9, pp. 533 - 547
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Ciliopathies - genetics | Animals | Ciliopathies - metabolism | Signal Transduction | Microtubule-Associated Proteins - metabolism | Humans | Basal Bodies - metabolism | Cilia - metabolism | Genetic disorders | Cilia and ciliary motion | Causes of | Genotype | Genetic aspects | Cellular signal transduction | Health aspects | Proteins | Signal transduction | Signaling | Molecular modelling | Genes | Transition zone | Organelles | Gating | Cilia | Index Medicus
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