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Novel Therapeutic Avenues for dynein-related Ciliopathies

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Publications

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Author(s): Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J. F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J. J. T. Rein, Elif Yilmaz Gulec, Alper Gezdirici, Revital
Published in: PLOS Genetics, Issue 14/8, 2018, Page(s) e1007602, ISSN 1553-7404
DOI: 10.1371/journal.pgen.1007602

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Author(s): Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Published in: The American Journal of Human Genetics, Issue 100/1, 2017, Page(s) 160-168, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2016.11.019

Primary cilia–regulated transcriptome in the renal collecting duct

Author(s): Sami G. Mohammed, Francisco J. Arjona, Eric H. J. Verschuren, Zeineb Bakey, Wynand Alkema, Sacha van Hijum, Miriam Schmidts, René J. M. Bindels, Joost G. J. Hoenderop
Published in: The FASEB Journal, Issue 32/7, 2018, Page(s) 3653-3668, ISSN 0892-6638
DOI: 10.1096/fj.201701228R

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Author(s): Inga M. Höben, Rim Hjeij, Heike Olbrich, Gerard W. Dougherty, Tabea Nöthe-Menchen, Isabella Aprea, Diana Frank, Petra Pennekamp, Bernd Dworniczak, Julia Wallmeier, Johanna Raidt, Kim G. Nielsen, Maria C. Philipsen, Francesca Santamaria, Laura Venditto, Israel Amirav, Huda Mussaffi, Freerk Prenzel, Kaman Wu, Zeineb Bakey, Miriam Schmidts, Niki T. Loges, Heymut Omran
Published in: The American Journal of Human Genetics, Issue 102/5, 2018, Page(s) 973-984, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2018.03.025

CiliaCarta: An integrated and validated compendium of ciliary genes

Author(s): Teunis J. P. van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A. Wunderlich, Suzanne Rix, Gerard W. Dougherty, Nils J. Lambacher, Chunmei Li, Victor L. Jensen, Michel R. Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F. Scheel, Brunella Franco, Dorus A. Mans, Erwin van Wijk, François Képès, Gisela G. Sla
Published in: PLOS ONE, Issue 14/5, 2019, Page(s) e0216705, ISSN 1932-6203
DOI: 10.1371/journal.pone.0216705

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Author(s): Niki T. Loges, Dinu Antony, Ales Maver, Matthew A. Deardorff, Elif Yýlmaz Güleç, Alper Gezdirici, Tabea Nöthe-Menchen, Inga M. Höben, Lena Jelten, Diana Frank, Claudius Werner, Johannes Tebbe, Kaman Wu, Elizabeth Goldmuntz, Goran Čuturilo, Bryan Krock, Alyssa Ritter, Rim Hjeij, Zeineb Bakey, Petra Pennekamp, Bernd Dworniczak, Han Brunner, Borut Peterlin, Cansaran Tanidir, Heike Olbrich, Heym
Published in: The American Journal of Human Genetics, Issue 103/6, 2018, Page(s) 995-1008, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2018.10.020

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

Author(s): Anika Wehrle, Tomasz M. Witkos, Sheila Unger, Judith Schneider, John A. Follit, Johannes Hermann, Tim Welting, Virginia Fano, Marja Hietala, Nithiwat Vatanavicharn, Katharina Schoner, Jürgen Spranger, Miriam Schmidts, Bernhard Zabel, Gregory J. Pazour, Agnes Bloch-Zupan, Gen Nishimura, Andrea Superti-Furga, Martin Lowe, Ekkehart Lausch
Published in: JCI Insight, Issue 4/3, 2019, ISSN 2379-3708
DOI: 10.1172/jci.insight.124701

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature

Author(s): Dinu Antony, Narayanan Nampoory, Chiara Bacchelli, Motasem Melhem, Kaman Wu, Chela T. James, Philip L. Beales, Mike Hubank, Daisy Thomas, Anant Mashankar, Kazem Behbehani, Miriam Schmidts, Osama Alsmadi
Published in: European Journal of Medical Genetics, Issue 60/12, 2017, Page(s) 658-666, ISSN 1769-7212
DOI: 10.1016/j.ejmg.2017.08.019

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

Author(s): Machteld M. Oud, Brooke L. Latour, Zeineb Bakey, Stef J. Letteboer, Dorien Lugtenberg, Ka Man Wu, Elisabeth A. M. Cornelissen, Helger G. Yntema, Miriam Schmidts, Ronald Roepman, Ernie M. H. F. Bongers
Published in: Cilia, Issue 7/1, 2018, ISSN 2046-2530
DOI: 10.1186/s13630-018-0055-2

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f acial and g enital features (COFG syndrome)

Author(s): Abolfazl Rad, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Hauser, Murat Gunel, Hulya Kayserili, Miriam Schmidts
Published in: Journal of Medical Genetics, Issue 56/5, 2019, Page(s) 332-339, ISSN 0022-2593
DOI: 10.1136/jmedgenet-2018-105623

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Author(s): Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts
Published in: Orphanet Journal of Rare Diseases, Issue 14/1, 2019, ISSN 1750-1172
DOI: 10.1186/s13023-018-0981-5

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

Author(s): Maryam Najafi, Dor Mohammad Kordi Tamandani, Anoush Azarfar, Zeineb Bakey, Farkhondeh Behjati, Dinu Antony, Isabel Schüle, Simin Sadeghi-Bojd, Ehsan Ghayoor Karimiani, Miriam Schmidts
Published in: Frontiers in Pediatrics, Issue 7, 2019, ISSN 2296-2360
DOI: 10.3389/fped.2019.00089

Editorial: Genetic Kidney Diseases of Childhood

Author(s): Miriam Schmidts, Max C. Liebau
Published in: Frontiers in Pediatrics, Issue 6, 2018, ISSN 2296-2360
DOI: 10.3389/fped.2018.00409