Literature DB >> 21506742

Ciliopathies.

Friedhelm Hildebrandt1, Thomas Benzing, Nicholas Katsanis.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21506742      PMCID： PMC3640822          DOI： 10.1056/NEJMra1010172

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  83 in total

1.  The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

Authors:  Christopher J Ward; Marie C Hogan; Sandro Rossetti; Denise Walker; Tam Sneddon; Xiaofang Wang; Vicky Kubly; Julie M Cunningham; Robert Bacallao; Masahiko Ishibashi; Dawn S Milliner; Vicente E Torres; Peter C Harris
Journal:  Nat Genet       Date:  2002-02-04       Impact factor: 38.330

2.  The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway.

Authors:  M M Barr; J DeModena; D Braun; C Q Nguyen; D H Hall; P W Sternberg
Journal:  Curr Biol       Date:  2001-09-04       Impact factor: 10.834

3.  Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2.

Authors:  T Benzing; P Gerke; K Höpker; F Hildebrandt; E Kim; G Walz
Journal:  Proc Natl Acad Sci U S A       Date:  2001-08-07       Impact factor: 11.205

4.  PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

Authors:  Luiz F Onuchic; Laszlo Furu; Yasuyuki Nagasawa; Xiaoying Hou; Thomas Eggermann; Zhiyong Ren; Carsten Bergmann; Jan Senderek; Ernie Esquivel; Raoul Zeltner; Sabine Rudnik-Schöneborn; Michael Mrug; William Sweeney; Ellis D Avner; Klaus Zerres; Lisa M Guay-Woodford; Stefan Somlo; Gregory G Germino
Journal:  Am J Hum Genet       Date:  2002-03-15       Impact factor: 11.025

5.  Loss of oriented cell division does not initiate cyst formation.

Authors:  Saori Nishio; Xin Tian; Anna Rachel Gallagher; Zhiheng Yu; Vishal Patel; Peter Igarashi; Stefan Somlo
Journal:  J Am Soc Nephrol       Date:  2009-12-03       Impact factor: 10.121

6.  Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

Authors:  Vincent Cantagrel; Jennifer L Silhavy; Stephanie L Bielas; Dominika Swistun; Sarah E Marsh; Julien Y Bertrand; Sophie Audollent; Tania Attié-Bitach; Kenton R Holden; William B Dobyns; David Traver; Lihadh Al-Gazali; Bassam R Ali; Tom H Lindner; Tamara Caspary; Edgar A Otto; Friedhelm Hildebrandt; Ian A Glass; Clare V Logan; Colin A Johnson; Christopher Bennett; Francesco Brancati; Enza Maria Valente; C Geoffrey Woods; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2008-08       Impact factor: 11.025

7.  Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Authors:  Stephanie L Bielas; Jennifer L Silhavy; Francesco Brancati; Marina V Kisseleva; Lihadh Al-Gazali; Laszlo Sztriha; Riad A Bayoumi; Maha S Zaki; Alice Abdel-Aleem; Rasim Ozgur Rosti; Hulya Kayserili; Dominika Swistun; Lesley C Scott; Enrico Bertini; Eugen Boltshauser; Elisa Fazzi; Lorena Travaglini; Seth J Field; Stephanie Gayral; Monique Jacoby; Stephane Schurmans; Bruno Dallapiccola; Philip W Majerus; Enza Maria Valente; Joseph G Gleeson
Journal:  Nat Genet       Date:  2009-08-09       Impact factor: 38.330

8.  Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Authors:  Enza Maria Valente; Clare V Logan; Soumaya Mougou-Zerelli; Jeong Ho Lee; Jennifer L Silhavy; Francesco Brancati; Miriam Iannicelli; Lorena Travaglini; Sveva Romani; Barbara Illi; Matthew Adams; Katarzyna Szymanska; Annalisa Mazzotta; Ji Eun Lee; Jerlyn C Tolentino; Dominika Swistun; Carmelo D Salpietro; Carmelo Fede; Stacey Gabriel; Carsten Russ; Kristian Cibulskis; Carrie Sougnez; Friedhelm Hildebrandt; Edgar A Otto; Susanne Held; Bill H Diplas; Erica E Davis; Mario Mikula; Charles M Strom; Bruria Ben-Zeev; Dorit Lev; Tally Lerman Sagie; Marina Michelson; Yuval Yaron; Amanda Krause; Eugen Boltshauser; Nadia Elkhartoufi; Joelle Roume; Stavit Shalev; Arnold Munnich; Sophie Saunier; Chris Inglehearn; Ali Saad; Adila Alkindy; Sophie Thomas; Michel Vekemans; Bruno Dallapiccola; Nicholas Katsanis; Colin A Johnson; Tania Attié-Bitach; Joseph G Gleeson
Journal:  Nat Genet       Date:  2010-05-30       Impact factor: 38.330

9.  Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Authors:  E A Otto; K Tory; M Attanasio; W Zhou; M Chaki; Y Paruchuri; E L Wise; M T F Wolf; B Utsch; C Becker; G Nürnberg; P Nürnberg; A Nayir; S Saunier; C Antignac; F Hildebrandt
Journal:  J Med Genet       Date:  2009-06-08       Impact factor: 6.318

10.  The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance.

Authors:  Gregory J Pazour; Sheila A Baker; James A Deane; Douglas G Cole; Bethany L Dickert; Joel L Rosenbaum; George B Witman; Joseph C Besharse
Journal:  J Cell Biol       Date:  2002-03-26       Impact factor: 10.539
View more
  590 in total

1.  Altered trafficking and stability of polycystins underlie polycystic kidney disease.

Authors:  Yiqiang Cai; Sorin V Fedeles; Ke Dong; Georgia Anyatonwu; Tamehito Onoe; Michihiro Mitobe; Jian-Dong Gao; Dayne Okuhara; Xin Tian; Anna-Rachel Gallagher; Zhangui Tang; Xiaoli Xie; Maria D Lalioti; Ann-Hwee Lee; Barbara E Ehrlich; Stefan Somlo
Journal:  J Clin Invest       Date:  2014-11-03       Impact factor: 14.808

2.  INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability.

Authors:  Olga V Plotnikova; Seongjin Seo; Denny L Cottle; Sarah Conduit; Sandra Hakim; Jennifer M Dyson; Christina A Mitchell; Ian M Smyth
Journal:  J Cell Sci       Date:  2014-11-13       Impact factor: 5.285

3.  IFT56 regulates vertebrate developmental patterning by maintaining IFTB complex integrity and ciliary microtubule architecture.

Authors:  Daisy Xin; Kasey J Christopher; Lewie Zeng; Yong Kong; Scott D Weatherbee
Journal:  Development       Date:  2017-03-06       Impact factor: 6.868

Review 4.  Cilia in vertebrate development and disease.

Authors:  Edwin C Oh; Nicholas Katsanis
Journal:  Development       Date:  2012-02       Impact factor: 6.868

5.  Commentary: the year in endocrine genetics for basic scientists.

Authors:  William F Crowley
Journal:  Mol Endocrinol       Date:  2011-11-22

6.  TORC1-mediated protein synthesis regulates cilia size and function: implications for organelle size control by diverse signaling cascades.

Authors:  Shiaulou Yuan; Zhaoxia Sun
Journal:  Cell Cycle       Date:  2012-05-01       Impact factor: 4.534

7.  Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.

Authors:  Yo Jun Choi; Jan Halbritter; Daniela A Braun; Markus Schueler; David Schapiro; John Hoon Rim; Sumeda Nandadasa; Won-Il Choi; Eugen Widmeier; Shirlee Shril; Friederike Körber; Sidharth K Sethi; Richard P Lifton; Bodo B Beck; Suneel S Apte; Heon Yung Gee; Friedhelm Hildebrandt
Journal:  Am J Hum Genet       Date:  2019-01-03       Impact factor: 11.025

8.  Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes.

Authors:  Yong Joon Kim; Sungsoo Kim; Yooju Jung; Eunji Jung; Ho Jeong Kwon; Joon Kim
Journal:  J Clin Invest       Date:  2018-07-23       Impact factor: 14.808

9.  NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.

Authors:  K T Leeman; L Dobson; M Towne; D Dukhovny; M Joshi; J Stoler; P B Agrawal
Journal:  J Perinatol       Date:  2014-05       Impact factor: 2.521

10.  Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.

Authors:  Majid Alfadhel; Muhammad Umair; Bader Almuzzaini; Abdulaziz Asiri; Abeer Al Tuwaijri; Khaloud Alhamoudi; Yusra Alyafee; Mohammed Al-Owain
Journal:  Mol Syndromol       Date:  2021-05-11
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.