Literature DB >> 18046420

Genetic complexity in Joubert syndrome and related disorders.

P C Harris1.   

Abstract

The recent identification of RPGRIP1L as a Joubert syndrome gene brings the total of known genes to five. Three of these are also associated with the lethal Meckel syndrome, and two with Senior-Løken syndrome; both of these disorders share Joubert syndrome phenotypes, illustrating the genetic complexity of this.

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Year:  2007        PMID： 18046420     DOI： 10.1038/sj.ki.5002577

Source DB:  PubMed          Journal:  Kidney Int        ISSN： 0085-2538            Impact factor:   10.612


  8 in total

Review 1.  Zebrafish kidney development: basic science to translational research.

Authors:  Lisa M Swanhart; Chiara Cianciolo Cosentino; Cuong Q Diep; Alan J Davidson; Mark de Caestecker; Neil A Hukriede
Journal:  Birth Defects Res C Embryo Today       Date:  2011-06

2.  Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

Authors:  Edwin M Stone; Artur V Cideciyan; Tomas S Aleman; Todd E Scheetz; Alexander Sumaroka; Mary A Ehlinger; Sharon B Schwartz; Gerald A Fishman; Elias I Traboulsi; Byron L Lam; Anne B Fulton; Robert F Mullins; Val C Sheffield; Samuel G Jacobson
Journal:  Arch Ophthalmol       Date:  2011-01

3.  Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion.

Authors:  Neil A Duldulao; Sunjin Lee; Zhaoxia Sun
Journal:  Development       Date:  2009-12       Impact factor: 6.868

Review 4.  Inherited cerebrorenal syndromes.

Authors:  Scott J Schurman; Steven J Scheinman
Journal:  Nat Rev Nephrol       Date:  2009-09       Impact factor: 28.314

5.  The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

Authors:  Amanda C Leightner; Cynthia J Hommerding; Ying Peng; Jeffrey L Salisbury; Vladimir G Gainullin; Peter G Czarnecki; Caroline R Sussman; Peter C Harris
Journal:  Hum Mol Genet       Date:  2013-02-07       Impact factor: 6.150

Review 6.  Polycystic kidney disease.

Authors:  Peter C Harris; Vicente E Torres
Journal:  Annu Rev Med       Date:  2009       Impact factor: 13.739

7.  Wtip and Vangl2 are required for mitotic spindle orientation and cloaca morphogenesis.

Authors:  Ekaterina Bubenshchikova; Koichiro Ichimura; Yayoi Fukuyo; Rebecca Powell; Chaonan Hsu; Stephen O Morrical; John R Sedor; Tatsuo Sakai; Tomoko Obara
Journal:  Biol Open       Date:  2012-05-04       Impact factor: 2.422

8.  Semaphorin-6A controls guidance of corticospinal tract axons at multiple choice points.

Authors:  Annette E Rünker; Graham E Little; Fumikazu Suto; Hajime Fujisawa; Kevin J Mitchell
Journal:  Neural Dev       Date:  2008-12-08       Impact factor: 3.842
  8 in total

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