Literature DB >> 29122913

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association.

Gert Jan Vanaken1,2, Laurence Bassinet3,2, Mieke Boon4, Rahma Mani1, Isabelle Honoré5, Jean-Francois Papon6,7, Harry Cuppens8, Martine Jaspers8, Natalie Lorent9, André Coste7,10, Estelle Escudier1,7,11, Serge Amselem1,11, Bernard Maitre12,7, Marie Legendre1,11,13, Sophie Christin-Maitre10,14,13.   

Abstract

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Year:  2017        PMID： 29122913     DOI： 10.1183/13993003.00314-2017

Source DB:  PubMed          Journal:  Eur Respir J        ISSN： 0903-1936            Impact factor:   16.671


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  30 in total

1.  Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.

Authors:  Marjorie Whitfield; Lucie Thomas; Emilie Bequignon; Alain Schmitt; Laurence Stouvenel; Guy Montantin; Sylvie Tissier; Philippe Duquesnoy; Bruno Copin; Sandra Chantot; Florence Dastot; Catherine Faucon; Anne Laure Barbotin; Anne Loyens; Jean-Pierre Siffroi; Jean-François Papon; Estelle Escudier; Serge Amselem; Valérie Mitchell; Aminata Touré; Marie Legendre
Journal:  Am J Hum Genet       Date:  2019-06-06       Impact factor: 11.025

2.  A comparative study of the turnover of multiciliated cells in the mouse trachea, oviduct, and brain.

Authors:  Elle C Roberson; Ngan K Tran; Mia J Konjikusic; Rebecca D Fitch; Ryan S Gray; John B Wallingford
Journal:  Dev Dyn       Date:  2020-03-12       Impact factor: 3.780

3.  Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.

Authors:  Ting Guo; Chao-Feng Tu; Dan-Hui Yang; Shui-Zi Ding; Cheng Lei; Rong-Chun Wang; Lv Liu; Xi Kang; Xiao-Qing Shen; Yi-Feng Yang; Zhi-Ping Tan; Yue-Qiu Tan; Hong Luo
Journal:  Hum Genet       Date:  2021-01-03       Impact factor: 4.132

Review 4.  Advances in the Genetics of Primary Ciliary Dyskinesia: Clinical Implications.

Authors:  Amjad Horani; Thomas W Ferkol
Journal:  Chest       Date:  2018-05-22       Impact factor: 9.410

5.  Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.

Authors:  Yasmina Auguste; Valérie Delague; Jean-Pierre Desvignes; Guy Longepied; Audrey Gnisci; Pierre Besnier; Nicolas Levy; Christophe Beroud; André Megarbane; Catherine Metzler-Guillemain; Michael J Mitchell
Journal:  Am J Hum Genet       Date:  2018-08-16       Impact factor: 11.025

6.  De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.

Authors:  Julia Wallmeier; Diana Frank; Amelia Shoemark; Tabea Nöthe-Menchen; Sandra Cindric; Heike Olbrich; Niki T Loges; Isabella Aprea; Gerard W Dougherty; Petra Pennekamp; Thomas Kaiser; Hannah M Mitchison; Claire Hogg; Siobhán B Carr; Maimoona A Zariwala; Thomas Ferkol; Margaret W Leigh; Stephanie D Davis; Jeffrey Atkinson; Susan K Dutcher; Michael R Knowles; Holger Thiele; Janine Altmüller; Henrike Krenz; Marius Wöste; Angela Brentrup; Frank Ahrens; Christian Vogelberg; Deborah J Morris-Rosendahl; Heymut Omran
Journal:  Am J Hum Genet       Date:  2019-10-17       Impact factor: 11.025

7.  Exposure of human fallopian tube epithelium to elevated testosterone results in alteration of cilia gene expression and beating.

Authors:  Tia Jackson-Bey; José Colina; Brett C Isenberg; Jonathan Coppeta; Margrit Urbanek; J Julie Kim; Teresa K Woodruff; Joanna E Burdette; Angela Russo
Journal:  Hum Reprod       Date:  2020-09-01       Impact factor: 6.918

8.  A genomics approach to females with infertility and recurrent pregnancy loss.

Authors:  Sateesh Maddirevula; Khalid Awartani; Serdar Coskun; Latifa F AlNaim; Niema Ibrahim; Firdous Abdulwahab; Mais Hashem; Saad Alhassan; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2020-03-14       Impact factor: 4.132

9.  Transcription factor TAp73 and microRNA-449 complement each other to support multiciliogenesis.

Authors:  Merit Wildung; Tilman Uli Esser; Katie Baker Grausam; Cornelia Wiedwald; Larisa Volceanov-Hahn; Dietmar Riedel; Sabine Beuermann; Li Li; Jessica Zylla; Ann-Kathrin Guenther; Magdalena Wienken; Evrim Ercetin; Zhiyuan Han; Felix Bremmer; Orr Shomroni; Stefan Andreas; Haotian Zhao; Muriel Lizé
Journal:  Cell Death Differ       Date:  2019-05-08       Impact factor: 15.828

10.  Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia.

Authors:  Maciej Dabrowski; Zuzanna Bukowy-Bieryllo; Claire L Jackson; Ewa Zietkiewicz
Journal:  Int J Mol Sci       Date:  2021-05-07       Impact factor: 5.923
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