Literature DB >> 27078219

Zebrafish: A Functional Refuge at the End of an Odyssey.

Lisa A Schimmenti1.   

Abstract

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Year:  2016        PMID： 27078219      PMCID： PMC4892204          DOI： 10.1089/zeb.2016.29005.sch

Source DB:  PubMed          Journal:  Zebrafish        ISSN： 1545-8547            Impact factor:   1.985


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  7 in total

1.  Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

Authors:  Adam P DeLuca; S Scott Whitmore; Jenna Barnes; Tasneem P Sharma; Trudi A Westfall; C Anthony Scott; Matthew C Weed; Jill S Wiley; Luke A Wiley; Rebecca M Johnston; Michael J Schnieders; Steven R Lentz; Budd A Tucker; Robert F Mullins; Todd E Scheetz; Edwin M Stone; Diane C Slusarski
Journal:  Hum Mol Genet       Date:  2015-10-22       Impact factor: 6.150

Review 2.  Ciliopathies: an expanding disease spectrum.

Authors:  Aoife M Waters; Philip L Beales
Journal:  Pediatr Nephrol       Date:  2011-01-06       Impact factor: 3.714

3.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

4.  Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.

Authors:  Valentina Grampa; Marion Delous; Mohamad Zaidan; Gweltas Odye; Sophie Thomas; Nadia Elkhartoufi; Emilie Filhol; Olivier Niel; Flora Silbermann; Corinne Lebreton; Sophie Collardeau-Frachon; Isabelle Rouvet; Jean-Luc Alessandri; Louise Devisme; Anne Dieux-Coeslier; Marie-Pierre Cordier; Yline Capri; Suonavy Khung-Savatovsky; Sabine Sigaudy; Rémi Salomon; Corinne Antignac; Marie-Claire Gubler; Alexandre Benmerah; Fabiola Terzi; Tania Attié-Bitach; Cécile Jeanpierre; Sophie Saunier
Journal:  PLoS Genet       Date:  2016-03-11       Impact factor: 5.917

Review 5.  Human basal body basics.

Authors:  Anastassiia Vertii; Hui-Fang Hung; Heidi Hehnly; Stephen Doxsey
Journal:  Cilia       Date:  2016-03-14

6.  DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.

Authors:  You Li; Hisato Yagi; Ezenwa Obi Onuoha; Rama Rao Damerla; Richard Francis; Yoshiyuki Furutani; Muhammad Tariq; Stephen M King; Gregory Hendricks; Cheng Cui; Manush Saydmohammed; Dong Min Lee; Maliha Zahid; Iman Sami; Linda Leatherbury; Gregory J Pazour; Stephanie M Ware; Toshio Nakanishi; Elizabeth Goldmuntz; Michael Tsang; Cecilia W Lo
Journal:  PLoS Genet       Date:  2016-02-26       Impact factor: 5.917

7.  MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Authors:  Anne Guimier; George C Gabriel; Fanny Bajolle; Michael Tsang; Hui Liu; Aaron Noll; Molly Schwartz; Rajae El Malti; Laurie D Smith; Nikolai T Klena; Gina Jimenez; Neil A Miller; Myriam Oufadem; Anne Moreau de Bellaing; Hisato Yagi; Carol J Saunders; Candice N Baker; Sylvie Di Filippo; Kevin A Peterson; Isabelle Thiffault; Christine Bole-Feysot; Linda D Cooley; Emily G Farrow; Cécile Masson; Patric Schoen; Jean-François Deleuze; Patrick Nitschké; Stanislas Lyonnet; Loic de Pontual; Stephen A Murray; Damien Bonnet; Stephen F Kingsmore; Jeanne Amiel; Patrice Bouvagnet; Cecilia W Lo; Christopher T Gordon
Journal:  Nat Genet       Date:  2015-10-05       Impact factor: 38.330
  7 in total

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