Publications by authors named "Niki Loges"

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Pathogenic variants in , , and cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.
Kai Wohlgemuth, Niklas Hoersting, Julia Koenig, Niki Tomas Loges, Johanna Raidt

Eur Respir J· December 2024

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A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.
Niki T Loges, June Kehlet Marthin, Johanna Raidt, Heike Olbrich, Inga M Höben

Eur Respir J· October 2024

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Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Gerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, Johanna Raidt, Andre Schramm, Niki T Loges

Am J Respir Crit Care Med· July 2024

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Primary Ciliary Dyskinesia Associated Disease-Causing Variants in and Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
Alina Wilken, Inga Marlena Höben, Alexander Wolter, Niki Tomas Loges, Heike Olbrich

Cells· July 2024

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Primary ciliary dyskinesia.
Johanna Raidt, Niki Tomas Loges, Heike Olbrich, Julia Wallmeier, Petra Pennekamp

Presse Med· September 2023

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Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.
Johanna Raidt, Henrike Krenz, Johannes Tebbe, Jörg Große-Onnebrink, Heike Olbrich, Niki Tomas Loges

Ann Am Thorac Soc· August 2022

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The BEAT-PCD (Better Experimental Approaches to Treat Primary Ciliary Dyskinesia) Clinical Research Collaboration.
Myrofora Goutaki, Suzanne Crowley, Eleonora Dehlink, René Gaupmann, Katie L Horton, Niki T Loges

Eur Respir J· February 2021

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Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.
Isabella Aprea, Tabea Nöthe-Menchen, Gerard W Dougherty, Johanna Raidt, Niki T Loges

Mol Hum Reprod· February 2021

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Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
Isabella Aprea, Johanna Raidt, Inga Marlena Höben, Niki Tomas Loges, Tabea Nöthe-Menchen

PLoS Genet· February 2021

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CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Gerard W Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Niki T Loges

Nat Commun· November 2020

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Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual.
Lara Schöning, Niki Tomas Loges, Yvonne Nitschke, Inga Marlena Höben, Albrecht Röpke

Stem Cell Res· July 2020

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and -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.
Sandra Cindrić, Gerard W Dougherty, Heike Olbrich, Rim Hjeij, Niki Tomas Loges

Am J Respir Cell Mol Biol· March 2020

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De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.
Julia Wallmeier, Diana Frank, Amelia Shoemark, Tabea Nöthe-Menchen, Sandra Cindric, Niki T Loges

Am J Hum Genet· November 2019

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Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of in Humans and Mice.
Tabea Nöthe-Menchen, Julia Wallmeier, Petra Pennekamp, Inga M Höben, Heike Olbrich, Niki T Loges

Circ Genom Precis Med· October 2019

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Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil.
Mary Anne Kowal Olm, Fernando Augusto Lima Marson, Rodrigo Abensur Athanazio, Naomi Kondo Nakagawa, Mariangela Macchione, Niki Tomas Loges

Sci Rep· June 2019

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Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.
Niki T Loges, Dinu Antony, Ales Maver, Matthew A Deardorff, Elif Yýlmaz Güleç

Am J Hum Genet· December 2018

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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Niki T Loges

PLoS Genet· August 2018

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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Inga M Höben, Rim Hjeij, Heike Olbrich, Gerard W Dougherty, Tabea Nöthe-Menchen, Niki T Loges

Am J Hum Genet· May 2018

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Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.
Christine Edelbusch, Sandra Cindrić, Gerard W Dougherty, Niki T Loges, Heike Olbrich

Hum Mutat· August 2017

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Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.
Rhea van den Bruck, Patrick P Weil, Thomas Ziegenhals, Philipp Schreiner, Stefan Juranek, Niki T Loges

Mol Cell Pediatr· May 2017

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Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
Tamara Paff, Niki T Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey

Am J Hum Genet· January 2017

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Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices.
Revital Abitbul, Israel Amirav, Hannah Blau, Soliman Alkrinawi, Micha Aviram, Niki T Loges

Respir Med· October 2016

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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.
Gerard W Dougherty, Niki T Loges, Judith A Klinkenbusch, Heike Olbrich, Petra Pennekamp

Am J Respir Cell Mol Biol· August 2016

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TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.
Julia Wallmeier, Hidetaka Shiratori, Gerard W Dougherty, Christine Edelbusch, Rim Hjeij, Niki T Loges

Am J Hum Genet· August 2016

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Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities.
Israel Amirav, Mary Roduta Roberts, Huda Mussaffi, Avigdor Mandelberg, Yehudah Roth, Niki T Loges

F1000Res· August 2016

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