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PLoS Genetics, ISSN 1553-7390, 10/2015, Volume 11, Issue 10
  Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of... 
Proteins | Signal transduction | Genotype & phenotype | Research & development--R&D | Photoreceptors | Mutation | Grants | Localization | Experiments | Defects
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2014, Volume 95, Issue 2, p. 131
  Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with... 
Proteins | Zebrafish | Genetics | Mutation | Ribonucleic acid--RNA | Deoxyribonucleic acid--DNA
Journal Article
by Chaki, Moumita and Airik, Rannar and Ghosh, Amiya K and Giles, Rachel H and Chen, Rui and Slaats, Gisela G and Wang, Hui and Wang, Shaohui and Hurd, Toby W and Zhou, Weibin and Cluckey, Andrew and Gee, Heon Yung and Ramaswami, Gokul and Hong, Chen-Jei and Hamilton, Bruce A and Červenka, Igor and Ganji, Ranjani Sri and Bryja, Vitezslav and Arts, Heleen H and van Reeuwijk, Jeroen and Oud, Machteld M and Letteboer, Stef J.F and Roepman, Ronald and Husson, Hervé and Ibraghimov-Beskrovnaya, Oxana and Yasunaga, Takayuki and Walz, Gerd and Eley, Lorraine and Sayer, John A and Schermer, Bernhard and Liebau, Max C and Benzing, Thomas and Le Corre, Stephanie and Drummond, Iain and Janssen, Sabine and Allen, Susan J and Natarajan, Sivakumar and O’Toole, John F and Attanasio, Massimo and Saunier, Sophie and Antignac, Corinne and Koenekoop, Robert K and Ren, Huanan and Lopez, Irma and Nayir, Ahmet and Stoetzel, Corinne and Dollfus, Helene and Massoudi, Rustin and Gleeson, Joseph G and Andreoli, Sharon P and Doherty, Dan G and Lindstrad, Anna and Golzio, Christelle and Katsanis, Nicholas and Pape, Lars and Abboud, Emad B and Al-Rajhi, Ali A and Lewis, Richard A and Omran, Heymut and Lee, Eva Y.-H.P and Sekiguchi, JoAnn M and Saunders, Rudel and Johnson, Colin A and Garner, Elizabeth and Vanselow, Katja and Andersen, Jens S and Shlomai, Joseph and Nurnberg, Peter and Nurnberg, Gudrun and Levy, Shawn and Smogorzewska, Agata and Otto, Edgar A and Hildebrandt, Friedhelm
Cell, ISSN 0092-8674, 08/2012, Volume 150, Issue 3, pp. 533 - 548
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, p. 932
  Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for... 
Proteins | Motor ability | Algae | Mutation | Adenosine triphosphatase | Cytoplasm
Journal Article
Tijdschrift voor Kindergeneeskunde, ISSN 0376-7442, 2014, Volume 82, Issue 1, pp. 19 - 25
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, p. 864
Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal... 
Proteins | Genetic disorders | Mutation | Kidney diseases | Bone diseases | Cells
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, p. 11491
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, pp. 634 - 643
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 864 - 870
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 09/2010, Volume 87, Issue 3, p. 418
Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and skeletal... 
Genetic disorders | Genes | Orthopedics | Skeletal system | Mutation | Patients
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2011, Volume 89, Issue 5, p. 634
A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan... 
Genetic disorders | Morphology | Mutation | Gene expression | Cells
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2011, Volume 20, Issue 2, pp. R149 - 57
Journal Article
PLOS Genetics, ISSN 1553-7390, 2015, Volume 11, Issue 10, p. e1005575
Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of... 
LEBER CONGENITAL AMAUROSIS | TRANSITION ZONE | CILIARY MEMBRANE | USHER-SYNDROME | VERTEBRATE PHOTORECEPTORS | GENETICS & HEREDITY | DIFFUSION BARRIER | JOUBERT SYNDROME | OUTER SEGMENT | INTRAFLAGELLAR TRANSPORT | PRIMARY CILIUM | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Polycystic Kidney Diseases - genetics | Retina - metabolism | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Mixed Function Oxygenases - metabolism | rab GTP-Binding Proteins - genetics | Cerebellum - abnormalities | Encephalocele - metabolism | Gene Knockdown Techniques | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Kidney Diseases, Cystic - genetics | Nuclear Proteins - genetics | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Encephalocele - genetics | rab GTP-Binding Proteins - metabolism | Polycystic Kidney Diseases - metabolism | Cilia - pathology | Signal Transduction | Cerebellum - metabolism | Nuclear Proteins - metabolism | Zebrafish | Eye Abnormalities - genetics | Cilia - metabolism | Protein Transport - genetics | Cerebellum - pathology | Cilia - genetics | Kidney Diseases, Cystic - pathology | Proteins - genetics | Kidney Diseases, Cystic - metabolism | Animals | Ciliary Motility Disorders - pathology | Proteins - metabolism | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Ciliary Motility Disorders - metabolism | Mutation | Mixed Function Oxygenases - genetics | Retina - pathology | Ciliary Motility Disorders - genetics | Physiological aspects | Phenotype | Cell organelles | Cilia and ciliary motion | Analysis | Research & development | Proteins | R&D | Signal transduction | Genotype & phenotype | Photoreceptors | Grants | Localization | Experiments | Defects
Journal Article
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