Literature DB >> 25590661

TCTEX1D2, a potential link to skeletal ciliopathies.

Saikat Mukhopadhyay1.   

Abstract

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Year:  2015        PMID： 25590661      PMCID： PMC4353232          DOI： 10.1080/15384101.2015.1006548

Source DB:  PubMed          Journal:  Cell Cycle        ISSN： 1551-4005            Impact factor:   4.534


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  7 in total

Review 1.  Intraflagellar transport.

Authors:  Joel L Rosenbaum; George B Witman
Journal:  Nat Rev Mol Cell Biol       Date:  2002-11       Impact factor: 94.444

2.  Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor.

Authors:  Panteleimon Rompolas; Lotte B Pedersen; Ramila S Patel-King; Stephen M King
Journal:  J Cell Sci       Date:  2007-09-25       Impact factor: 5.285

3.  Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

Authors:  Cecilie Bredrup; Sophie Saunier; Machteld M Oud; Torunn Fiskerstrand; Alexander Hoischen; Damien Brackman; Sabine M Leh; Marit Midtbø; Emilie Filhol; Christine Bole-Feysot; Patrick Nitschké; Christian Gilissen; Olav H Haugen; Jan-Stephan F Sanders; Irene Stolte-Dijkstra; Dorus A Mans; Eric J Steenbergen; Ben C J Hamel; Marie Matignon; Rolph Pfundt; Cécile Jeanpierre; Helge Boman; Eyvind Rødahl; Joris A Veltman; Per M Knappskog; Nine V A M Knoers; Ronald Roepman; Heleen H Arts
Journal:  Am J Hum Genet       Date:  2011-10-20       Impact factor: 11.025

4.  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

5.  Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Authors:  Miriam Schmidts; Julia Vodopiutz; Sonia Christou-Savina; Claudio R Cortés; Aideen M McInerney-Leo; Richard D Emes; Heleen H Arts; Beyhan Tüysüz; Jason D'Silva; Paul J Leo; Tom C Giles; Machteld M Oud; Jessica A Harris; Marije Koopmans; Mhairi Marshall; Nursel Elçioglu; Alma Kuechler; Detlef Bockenhauer; Anthony T Moore; Louise C Wilson; Andreas R Janecke; Matthew E Hurles; Warren Emmet; Brooke Gardiner; Berthold Streubel; Belinda Dopita; Andreas Zankl; Hülya Kayserili; Peter J Scambler; Matthew A Brown; Philip L Beales; Carol Wicking; Emma L Duncan; Hannah M Mitchison
Journal:  Am J Hum Genet       Date:  2013-10-31       Impact factor: 11.025

6.  Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

Authors:  Miriam Schmidts; Heleen H Arts; Ernie M H F Bongers; Zhimin Yap; Machteld M Oud; Dinu Antony; Lonneke Duijkers; Richard D Emes; Jim Stalker; Jan-Bart L Yntema; Vincent Plagnol; Alexander Hoischen; Christian Gilissen; Elisabeth Forsythe; Ekkehart Lausch; Joris A Veltman; Nel Roeleveld; Andrea Superti-Furga; Anna Kutkowska-Kazmierczak; Erik-Jan Kamsteeg; Nursel Elçioğlu; Merel C van Maarle; Luitgard M Graul-Neumann; Koenraad Devriendt; Sarah F Smithson; Diana Wellesley; Nienke E Verbeek; Raoul C M Hennekam; Hulya Kayserili; Peter J Scambler; Philip L Beales; Nine Vam Knoers; Ronald Roepman; Hannah M Mitchison
Journal:  J Med Genet       Date:  2013-03-01       Impact factor: 5.941

7.  WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia.

Authors:  Ramila S Patel-King; Renée M Gilberti; Erik F Y Hom; Stephen M King
Journal:  Mol Biol Cell       Date:  2013-07-17       Impact factor: 4.138
  7 in total
  2 in total

Review 1.  Composition and function of ciliary inner-dynein-arm subunits studied in Chlamydomonas reinhardtii.

Authors:  Ryosuke Yamamoto; Juyeon Hwang; Takashi Ishikawa; Takahide Kon; Winfield S Sale
Journal:  Cytoskeleton (Hoboken)       Date:  2021-04-28

2.  Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.

Authors:  Eva Albertsen Malt; Katalin Juhasz; Anna Frengen; Teresia Wangensteen; Nina Merete Emilsen; Borre Hansen; Oleg Agafonov; Hilde Loge Nilsen
Journal:  Mol Genet Genomic Med       Date:  2019-07-25       Impact factor: 2.183
  2 in total

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