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Select item 69916821.

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome

Rui Zhang, Shaoyun Chen, Peng Han, Fangfang Chen, Shan Kuang, Zhuo Meng, Junnian Liu, Ruliang Sun, Zhiwei Wang, Xiaohong He, Yong Li, Yuanning Guan, Zhengfang Yue, Chen Li, Subrata Kumar Dey, Yuanfang Zhu, Santasree Banerjee

J Cell Mol Med. 2020 Jan; 24(2): 1906–1916. Published online 2019 Dec 15. doi: 10.1111/jcmm.14887

PMCID:: PMC6991682

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Select item 47942472.

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Chunmei Li, Victor L. Jensen, Kwangjin Park, Julie Kennedy, Francesc R. Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F. Reiter, Oliver E. Blacque, Enza Maria Valente, Michel R. Leroux

PLoS Biol. 2016 Mar; 14(3): e1002416. Published online 2016 Mar 16. doi: 10.1371/journal.pbio.1002416

PMCID:: PMC4794247

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Select item 36389423.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, C. Stoetzel, M. C. Vincent, C. C. Leitch, V. Laurier, J. M. Danse, S. Hellé, V. Marion, V. Bennouna-Greene, S. Vicaire, A. Megarbane, J. Kaplan, V. Drouin-Garraud, M. Hamdani, S. Sigaudy, C. Francannet, J. Roume, P. Bitoun, A. Goldenberg, N. Philip, S. Odent, J. Green, M. Cossée, E. E. Davis, N. Katsanis, D. Bonneau, A. Verloes, O. Poch, J. L. Mandel, H. Dollfus

Hum Genet. Author manuscript; available in PMC 2013 Apr 29.

Published in final edited form as: Hum Genet. 2010 Mar; 127(5): 583–593. Published online 2010 Feb 23. doi: 10.1007/s00439-010-0804-9

PMCID:: PMC3638942

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Select item 27833844.

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

Soumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker, Sophie Audollent, Nadia Elkhartoufi, Candice Babarit, Stéphane Romano, Rémi Salomon, Jeanne Amiel, Chantal Esculpavit, Marie Gonzales, Estelle Escudier, Bruno Leheup, Philippe Loget, Sylvie Odent, Joëlle Roume, Marion Gérard, Anne-Lise Delezoide, Suonavy Khung, Sophie Patrier, Marie-Pierre Cordier, Raymonde Bouvier, Jéléna Martinovic, Marie-Claire Gubler, Nathalie Boddaert, Arnold Munnich, Férechté Encha-Razavi, Enza Maria Valente, Ali Saad, Sophie Saunier, Michel Vekemans, Tania Attié-Bitach

Hum Mutat. Author manuscript; available in PMC 2010 Nov 1.

Published in final edited form as: Hum Mutat. 2009 Nov; 30(11): 1574–1582. doi: 10.1002/humu.21116

PMCID:: PMC2783384

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Select item 19509295.

Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie-Claude Babron, Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzales, Eleanor Rattenberry, Chantal Esculpavit, Annick Toutain, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie-Christine Dauge, Joëlle Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Françoise Menez, Anne-Marie Beaufrère, Christine Francannet, Julia Tantau, Martine Sinico, Yves Dumez, Fiona MacDonald, Arnold Munnich, Stanislas Lyonnet, Marie-Claire Gubler, Emmanuelle Génin, Colin A. Johnson, Michel Vekemans, Férechté Encha-Razavi, Tania Attié-Bitach

Am J Hum Genet. 2007 Jul; 81(1): 170–179. Published online 2007 Jun 4. doi: 10.1086/519494

PMCID:: PMC1950929

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Select item 50246436.

Cilium transition zone proteome reveals compartmentalization and differential dynamics of ciliopathy complexes

Samuel Dean, Flavia Moreira-Leite, Vladimir Varga, Keith Gull

Proc Natl Acad Sci U S A. 2016 Aug 30; 113(35): E5135–E5143. Published online 2016 Aug 12. doi: 10.1073/pnas.1604258113

PMCID:: PMC5024643

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Select item 47950487.

Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

Ingeborg Barisic, Ljubica Boban, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Jorieke EH Bergman, Paula Braz, Elizabeth S Draper, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Anna Pierini, Annette Queisser-Luft, Judith Rankin, Anke Rissmann, Christine Verellen-Dumoulin

Eur J Hum Genet. 2015 Jun; 23(6): 746–752. Published online 2014 Sep 3. doi: 10.1038/ejhg.2014.174

PMCID:: PMC4795048

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Select item 47496648.

A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4

Svetlana V. Masyukova, Dawn E. Landis, Scott J. Henke, Corey L. Williams, Jay N. Pieczynski, Kelly N. Roszczynialski, Jannese E. Covington, Erik B. Malarkey, Bradley K. Yoder

PLoS Genet. 2016 Feb; 12(2): e1005841. Published online 2016 Feb 10. doi: 10.1371/journal.pgen.1005841

PMCID:: PMC4749664

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Select item 47006009.

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Christopher M. Watson, Laura A. Crinnion, Ian R. Berry, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth S. Charlton, Angus Dobbie, Ian M. Carr, David T. Bonthron

BMC Med Genet. 2016; 17: 1. Published online 2016 Jan 4. doi: 10.1186/s12881-015-0265-z

PMCID:: PMC4700600

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Select item 436210110.

Genetic, chromosomal, and syndromic causes of neural tube defects

Mohammed Z. Seidahmed, Omer B. Abdelbasit, Meeralebbae M. Shaheed, Khalid A. Alhussein, Abeer M. Miqdad, Abdulmohsen S. Samadi, Mohammed I. Khalil, Elham Al-Mardawi, Mustafa A. Salih, Dr Med Sci

Saudi Med J. 2014; 35(Suppl 1): S49–S56.

PMCID:: PMC4362101

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Select item 349582811.

Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment

Dapeng Zhang, L. Aravind

Cell Cycle. 2012 Oct 15; 11(20): 3861–3875. doi: 10.4161/cc.22068

PMCID:: PMC3495828

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Select item 338306512.

Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson

Cell. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019

PMCID:: PMC3383065

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Select item 310999813.

B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

Katharina Hopp, Christina M. Heyer, Cynthia J. Hommerding, Susan A. Henke, Jamie L. Sundsbak, Shail Patel, Priyanka Patel, Mark B. Consugar, Peter G. Czarnecki, Troy J. Gliem, Vicente E. Torres, Sandro Rossetti, Peter C. Harris

Hum Mol Genet. 2011 Jul 1; 20(13): 2524–2534. Published online 2011 Apr 14. doi: 10.1093/hmg/ddr151

PMCID:: PMC3109998

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Select item 306314714.

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

Corey L. Williams, Chunmei Li, Katarzyna Kida, Peter N. Inglis, Swetha Mohan, Lucie Semenec, Nathan J. Bialas, Rachel M. Stupay, Nansheng Chen, Oliver E. Blacque, Bradley K. Yoder, Michel R. Leroux

J Cell Biol. 2011 Mar 21; 192(6): 1023–1041. doi: 10.1083/jcb.201012116

PMCID:: PMC3063147

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Select item 300896315.

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

Cheng Cui, Bishwanath Chatterjee, Deanne Francis, Qing Yu, Jovenal T. SanAgustin, Richard Francis, Terry Tansey, Charisse Henry, Baolin Wang, Bethan Lemley, Gregory J. Pazour, Cecilia W. Lo

Dis Model Mech. 2011 Jan; 4(1): 43–56. Published online 2010 Nov 2. doi: 10.1242/dmm.006262

PMCID:: PMC3008963

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Select item 935261516.

Three Novel Variants of CEP290 and CC2D2DA and a Link Between ZNF77 and SHH Signaling Pathway Are Found in Two Meckel-Gruber Syndrome Fetuses

Zhidan Hong, Xuanyi He, Fang Yu, Huanyu Liu, Xiaoli Zhang, Yuanzhen Zhang

Reprod Sci. 2022 Aug; 29(8): 2322–2332. Published online 2022 Jan 3. doi: 10.1007/s43032-021-00835-5

PMCID:: PMC9352615

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Select item 930052617.

Fetal ciliopathies: a retrospective observational single-center study

Corinna Simonini, Anne Floeck, Brigitte Strizek, Andreas Mueller, Ulrich Gembruch, Annegret Geipel

Arch Gynecol Obstet. 2022; 306(1): 71–83. Published online 2021 Oct 1. doi: 10.1007/s00404-021-06265-7

PMCID:: PMC9300526

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Select item 903466318.

Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing

Meilian Peng, Shuai Han, Juan Sun, Xiaodong He, Yaer Lv, Liwei Yang

Mol Genet Genomic Med. 2022 May; 10(5): e1935. Published online 2022 Mar 30. doi: 10.1002/mgg3.1935

PMCID:: PMC9034663

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Select item 785970119.

Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans

Karen I. Lange, Sofia Tsiropoulou, Katarzyna Kucharska, Oliver E. Blacque

Dis Model Mech. 2021 Jan 1; 14(1): dmm046631. Published online 2021 Jan 26. doi: 10.1242/dmm.046631

PMCID:: PMC7859701

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Select item 580255020.

Cerebral organoids reveal early cortical maldevelopment in schizophrenia—computational anatomy and genomics, role of FGFR1

E. K. Stachowiak, C. A. Benson, S. T. Narla, A. Dimitri, L. E. Bayona Chuye, S. Dhiman, K. Harikrishnan, S. Elahi, D. Freedman, K. J. Brennand, P. Sarder, M. K. Stachowiak

Transl Psychiatry. 2017 Nov; 7: 6. Published online 2017 Nov 17. doi: 10.1038/s41398-017-0054-x

PMCID:: PMC5802550

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