Literature DB >> 22486404

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).

J L Hoffer, H Fryssira, A E Konstantinidou, H-H Ropers, A Tzschach.   

Abstract

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Year:  2012        PMID： 22486404     DOI： 10.1111/j.1399-0004.2012.01880.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

1.  Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.

Authors:  Tomohiko Yamamura; Naoya Morisada; Kandai Nozu; Shogo Minamikawa; Shingo Ishimori; Daisaku Toyoshima; Takeshi Ninchoji; Masato Yasui; Mariko Taniguchi-Ikeda; Ichiro Morioka; Koichi Nakanishi; Hisahide Nishio; Kazumoto Iijima
Journal:  Clin Exp Nephrol       Date:  2016-03-11       Impact factor: 2.801

2.  Role for the IFT-A Complex in Selective Transport to the Primary Cilium.

Authors:  Wenxiang Fu; Lei Wang; Sehyun Kim; Ji Li; Brian David Dynlacht
Journal:  Cell Rep       Date:  2016-11-01       Impact factor: 9.423

3.  Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

Authors:  Aideen M McInerney-Leo; Miriam Schmidts; Claudio R Cortés; Paul J Leo; Blanca Gener; Andrew D Courtney; Brooke Gardiner; Jessica A Harris; Yeping Lu; Mhairi Marshall; Peter J Scambler; Philip L Beales; Matthew A Brown; Andreas Zankl; Hannah M Mitchison; Emma L Duncan; Carol Wicking
Journal:  Am J Hum Genet       Date:  2013-08-01       Impact factor: 11.025

4.  Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

Authors:  José A Caparrós-Martín; Alessandro De Luca; François Cartault; Mona Aglan; Samia Temtamy; Ghada A Otaify; Mennat Mehrez; María Valencia; Laura Vázquez; Jean-Luc Alessandri; Julián Nevado; Inmaculada Rueda-Arenas; Karen E Heath; Maria Cristina Digilio; Bruno Dallapiccola; Judith A Goodship; Pleasantine Mill; Pablo Lapunzina; Victor L Ruiz-Perez
Journal:  Hum Mol Genet       Date:  2015-04-23       Impact factor: 6.150

Review 5.  Cilia/Ift protein and motor -related bone diseases and mouse models.

Authors:  Xue Yuan; Shuying Yang
Journal:  Front Biosci (Landmark Ed)       Date:  2015-01-01

6.  Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.

Authors:  Miroslava Brndiarova; Martin Mraz; Zuzana Kolkova; Frantisek Cisarik; Peter Banovcin
Journal:  Mol Syndromol       Date:  2021-06-16

7.  Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii.

Authors:  Huawen Lin; Zhengyan Zhang; Carlo Iomini; Susan K Dutcher
Journal:  Open Biol       Date:  2018-03       Impact factor: 6.411

8.  Comparative genomics provides new insights into the remarkable adaptations of the African wild dog (Lycaon pictus).

Authors:  Daniel E Chavez; Ilan Gronau; Taylor Hains; Sergei Kliver; Klaus-Peter Koepfli; Robert K Wayne
Journal:  Sci Rep       Date:  2019-06-06       Impact factor: 4.379

9.  Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia).

Authors:  Joanna Ryżko; Joanna Walczak-Sztulpa; Piotr Czubkowski; Anna Latos-Bieleńska; Adam Kowalski; Marek Stefanowicz; Wioletta Jarmużek; Ryszard Grenda; Joanna Pawłowska
Journal:  Front Pediatr       Date:  2022-02-25       Impact factor: 3.418
  9 in total

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