Literature DB >> 6502812

Immotile cilia syndrome associated with polycystic kidney.

H Saeki, S Kondo, T Morita, I Sasagawa, G Ishizuka, Y Koizumi.   

Abstract

The immotile cilia syndrome is an inherited disorder characterized by the inability of ciliated structures to beat effectively. The urological manifestation of this syndrome is sterility. We report a case of the immotile cilia syndrome associated with polycystic kidney, which also is a hereditary disease.

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Year:  1984        PMID： 6502812     DOI： 10.1016/s0022-5347(17)50080-4

Source DB:  PubMed          Journal:  J Urol        ISSN： 0022-5347            Impact factor:   7.450


  10 in total

Review 1.  Molecular basis of the obesity associated with Bardet-Biedl syndrome.

Authors:  Deng-Fu Guo; Kamal Rahmouni
Journal:  Trends Endocrinol Metab       Date:  2011-04-21       Impact factor: 12.015

2.  RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.

Authors:  A Moore; E Escudier; G Roger; A Tamalet; B Pelosse; S Marlin; A Clément; M Geremek; B Delaisi; A-M Bridoux; A Coste; M Witt; B Duriez; S Amselem
Journal:  J Med Genet       Date:  2005-07-31       Impact factor: 6.318

3.  Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype.

Authors:  Angeles Fernandez-Gonzalez; Stella Kourembanas; Todd A Wyatt; S Alex Mitsialis
Journal:  Am J Respir Cell Mol Biol       Date:  2008-09-05       Impact factor: 6.914

4.  Prevalence of cysts in seminal tract and abnormal semen parameters in patients with autosomal dominant polycystic kidney disease.

Authors:  Roser Torra; Joaquim Sarquella; Jordi Calabia; Jordi Martí; Elisabet Ars; Patricia Fernández-Llama; Jose Ballarin
Journal:  Clin J Am Soc Nephrol       Date:  2008-03-05       Impact factor: 8.237

5.  Stem cells and fluid flow drive cyst formation in an invertebrate excretory organ.

Authors:  Hanh Thi-Kim Vu; Jochen C Rink; Sean A McKinney; Melainia McClain; Naharajan Lakshmanaperumal; Richard Alexander; Alejandro Sánchez Alvarado
Journal:  Elife       Date:  2015-06-09       Impact factor: 8.140

6.  Polycystic kidney disease in the medaka (Oryzias latipes) pc mutant caused by a mutation in the Gli-Similar3 (glis3) gene.

Authors:  Hisashi Hashimoto; Rieko Miyamoto; Naoki Watanabe; Dai Shiba; Kenjiro Ozato; Chikako Inoue; Yuko Kubo; Akihiko Koga; Tomoko Jindo; Takanori Narita; Kiyoshi Naruse; Kazuko Ohishi; Keiko Nogata; Tadasu Shin-I; Shuichi Asakawa; Nobuyoshi Shimizu; Tomotsune Miyamoto; Toshio Mochizuki; Takahiko Yokoyama; Hiroshi Hori; Hiroyuki Takeda; Yuji Kohara; Yuko Wakamatsu
Journal:  PLoS One       Date:  2009-07-17       Impact factor: 3.240

7.  Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

Authors:  Victoria H Castleman; Leila Romio; Rahul Chodhari; Robert A Hirst; Sandra C P de Castro; Keith A Parker; Patricia Ybot-Gonzalez; Richard D Emes; Stephen W Wilson; Colin Wallis; Colin A Johnson; Rene J Herrera; Andrew Rutman; Mellisa Dixon; Amelia Shoemark; Andrew Bush; Claire Hogg; R Mark Gardiner; Orit Reish; Nicholas D E Greene; Christopher O'Callaghan; Saul Purton; Eddie M K Chung; Hannah M Mitchison
Journal:  Am J Hum Genet       Date:  2009-02-05       Impact factor: 11.025

8.  Bld10/Cep135 stabilizes basal bodies to resist cilia-generated forces.

Authors:  Brian A Bayless; Thomas H Giddings; Mark Winey; Chad G Pearson
Journal:  Mol Biol Cell       Date:  2012-10-31       Impact factor: 4.138

Review 9.  Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.

Authors:  Adam J Shapiro; Maimoona A Zariwala; Thomas Ferkol; Stephanie D Davis; Scott D Sagel; Sharon D Dell; Margaret Rosenfeld; Kenneth N Olivier; Carlos Milla; Sam J Daniel; Adam J Kimple; Michele Manion; Michael R Knowles; Margaret W Leigh
Journal:  Pediatr Pulmonol       Date:  2015-09-29

10.  The ciliary protein RPGRIP1L governs autophagy independently of its proteasome-regulating function at the ciliary base in mouse embryonic fibroblasts.

Authors:  Andreas Struchtrup; Antonia Wiegering; Björn Stork; Ulrich Rüther; Christoph Gerhardt
Journal:  Autophagy       Date:  2018-02-21       Impact factor: 16.016
  10 in total

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