Literature DB >> 27868044

Stem cells with a view: a look inside a retinal ciliopathy.

Linjing Li1, Hemant Khanna1.   

Abstract

Entities:  

Year:  2016        PMID： 27868044      PMCID： PMC5104580          DOI： 10.21037/sci.2016.09.19

Source DB:  PubMed          Journal:  Stem Cell Investig        ISSN： 2306-9759


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  22 in total

1.  Self-formation of optic cups and storable stratified neural retina from human ESCs.

Authors:  Tokushige Nakano; Satoshi Ando; Nozomu Takata; Masako Kawada; Keiko Muguruma; Kiyotoshi Sekiguchi; Koichi Saito; Shigenobu Yonemura; Mototsugu Eiraku; Yoshiki Sasai
Journal:  Cell Stem Cell       Date:  2012-06-14       Impact factor: 24.633

2.  A more efficient method to generate integration-free human iPS cells.

Authors:  Keisuke Okita; Yasuko Matsumura; Yoshiko Sato; Aki Okada; Asuka Morizane; Satoshi Okamoto; Hyenjong Hong; Masato Nakagawa; Koji Tanabe; Ken-ichi Tezuka; Toshiyuki Shibata; Takahiro Kunisada; Masayo Takahashi; Jun Takahashi; Hiroh Saji; Shinya Yamanaka
Journal:  Nat Methods       Date:  2011-04-03       Impact factor: 28.547

3.  Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

Authors:  Rivka A Rachel; Helen L May-Simera; Shobi Veleri; Norimoto Gotoh; Byung Yoon Choi; Carlos Murga-Zamalloa; Jeremy C McIntyre; Jonah Marek; Irma Lopez; Alice N Hackett; Jun Zhang; Matthew Brooks; Anneke I den Hollander; Philip L Beales; Tiansen Li; Samuel G Jacobson; Raman Sood; Jeffrey R Martens; Paul Liu; Thomas B Friedman; Hemant Khanna; Robert K Koenekoop; Matthew W Kelley; Anand Swaroop
Journal:  J Clin Invest       Date:  2012-03-26       Impact factor: 14.808

4.  Retina ciliopathies: from genes to mechanisms and treatment.

Authors:  Hemant Khanna; Wolfgang Baehr
Journal:  Vision Res       Date:  2012-12-15       Impact factor: 1.886

5.  Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

Authors:  Enza Maria Valente; Jennifer L Silhavy; Francesco Brancati; Giuseppe Barrano; Suguna Rani Krishnaswami; Marco Castori; Madeline A Lancaster; Eugen Boltshauser; Loredana Boccone; Lihadh Al-Gazali; Elisa Fazzi; Sabrina Signorini; Carrie M Louie; Emanuele Bellacchio; Enrico Bertini; Bruno Dallapiccola; Joseph G Gleeson
Journal:  Nat Genet       Date:  2006-05-07       Impact factor: 38.330

6.  Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse.

Authors:  Balajikarthick Subramanian; Manisha Anand; Naheed W Khan; Hemant Khanna
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-08-14       Impact factor: 4.799

7.  Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Authors:  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
Journal:  Am J Hum Genet       Date:  2007-06-04       Impact factor: 11.025

8.  Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.

Authors:  Kollu N Rao; Wei Zhang; Linjing Li; Cecinio Ronquillo; Wolfgang Baehr; Hemant Khanna
Journal:  Hum Mol Genet       Date:  2016-03-02       Impact factor: 6.150

9.  Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Authors:  Isabelle Perrault; Nathalie Delphin; Sylvain Hanein; Sylvie Gerber; Jean-Louis Dufier; Olivier Roche; Sabine Defoort-Dhellemmes; Hélène Dollfus; Elisa Fazzi; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Journal:  Hum Mutat       Date:  2007-04       Impact factor: 4.878

10.  Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.

Authors:  David A Parfitt; Amelia Lane; Conor M Ramsden; Amanda-Jayne F Carr; Peter M Munro; Katarina Jovanovic; Nele Schwarz; Naheed Kanuga; Manickam N Muthiah; Sarah Hull; Jean-Marc Gallo; Lyndon da Cruz; Anthony T Moore; Alison J Hardcastle; Peter J Coffey; Michael E Cheetham
Journal:  Cell Stem Cell       Date:  2016-04-14       Impact factor: 24.633
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  1 in total

1.  Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.

Authors:  Wei Zhang; Linjing Li; Qin Su; Guangping Gao; Hemant Khanna
Journal:  Hum Gene Ther       Date:  2017-07-05       Impact factor: 5.695
  1 in total

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