Literature DB >> 12923538

From cilia to cyst.

Terry Watnick, Gregory Germino.   

Abstract

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Year:  2003        PMID： 12923538     DOI： 10.1038/ng0803-355

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  58 in total

1.  AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

Authors:  M A Parisi; D Doherty; M L Eckert; D W W Shaw; H Ozyurek; S Aysun; O Giray; A Al Swaid; S Al Shahwan; N Dohayan; E Bakhsh; O S Indridason; W B Dobyns; C L Bennett; P F Chance; I A Glass
Journal:  J Med Genet       Date:  2005-09-09       Impact factor: 6.318

2.  Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes.

Authors:  Lucie Hertz-Pannier; Michele Déchaux; Martine Sinico; Sophie Emond; Valerie Cormier-Daire; Jean-Marie Saudubray; Francis Brunelle; Patrick Niaudet; Nathalie Seta; Pascale de Lonlay
Journal:  Pediatr Radiol       Date:  2005-11-22

3.  A hypomorphic mutation in the mouse laminin alpha5 gene causes polycystic kidney disease.

Authors:  M Brendan Shannon; Bruce L Patton; Scott J Harvey; Jeffrey H Miner
Journal:  J Am Soc Nephrol       Date:  2006-06-21       Impact factor: 10.121

4.  Nephronophthisis.

Authors:  Roslyn J Simms; Lorraine Eley; John A Sayer
Journal:  Eur J Hum Genet       Date:  2008-12-10       Impact factor: 4.246

Review 5.  Spectrum of clinical diseases caused by disorders of primary cilia.

Authors:  Stephanie M Ware; Meral Gunay- Aygun; Friedhelm Hildebrandt
Journal:  Proc Am Thorac Soc       Date:  2011-09

6.  Mechanical properties of a primary cilium as measured by resonant oscillation.

Authors:  Andrew Resnick
Journal:  Biophys J       Date:  2015-07-07       Impact factor: 4.033

7.  Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.

Authors:  Matthias T F Wolf; Bettina E Mucha; Hans C Hennies; Massimo Attanasio; Franziska Panther; Isabella Zalewski; Stephanie M Karle; Edgar A Otto; C Constantinou Deltas; Arno Fuchshuber; Friedhelm Hildebrandt
Journal:  Hum Genet       Date:  2006-04-26       Impact factor: 4.132

8.  Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

Authors:  Miguel A Garcia-Gonzalez; Luis F Menezes; Klaus B Piontek; Junya Kaimori; David L Huso; Terry Watnick; Luiz F Onuchic; Lisa M Guay-Woodford; Gregory G Germino
Journal:  Hum Mol Genet       Date:  2007-06-16       Impact factor: 6.150

9.  Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Authors:  Edgar A Otto; Toby W Hurd; Rannar Airik; Moumita Chaki; Weibin Zhou; Corinne Stoetzel; Suresh B Patil; Shawn Levy; Amiya K Ghosh; Carlos A Murga-Zamalloa; Jeroen van Reeuwijk; Stef J F Letteboer; Liyun Sang; Rachel H Giles; Qin Liu; Karlien L M Coene; Alejandro Estrada-Cuzcano; Rob W J Collin; Heather M McLaughlin; Susanne Held; Jennifer M Kasanuki; Gokul Ramaswami; Jinny Conte; Irma Lopez; Joseph Washburn; James Macdonald; Jinghua Hu; Yukiko Yamashita; Eamonn R Maher; Lisa M Guay-Woodford; Hartmut P H Neumann; Nicholas Obermüller; Robert K Koenekoop; Carsten Bergmann; Xiaoshu Bei; Richard A Lewis; Nicholas Katsanis; Vanda Lopes; David S Williams; Robert H Lyons; Chi V Dang; Daniela A Brito; Mónica Bettencourt Dias; Xinmin Zhang; James D Cavalcoli; Gudrun Nürnberg; Peter Nürnberg; Eric A Pierce; Peter K Jackson; Corinne Antignac; Sophie Saunier; Ronald Roepman; Helene Dollfus; Hemant Khanna; Friedhelm Hildebrandt
Journal:  Nat Genet       Date:  2010-09-12       Impact factor: 38.330

10.  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
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