Publications by authors named "Miriam Schmidts"

56Publications

Cilia in cystic kidney and other diseases.

Cell Signal 2020 05 24;69:109519. Epub 2019 Dec 24.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

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May 2020

Flow stimulates drug transport in a human kidney proximal tubule-on-a-chip independent of primary cilia.

Biochim Biophys Acta Gen Subj 2020 01 11;1864(1):129433. Epub 2019 Sep 11.

Department of Pharmacology and Toxicology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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January 2020

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

Front Pediatr 2019 21;7:89. Epub 2019 Mar 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.

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March 2019

Editorial: Genetic Kidney Diseases of Childhood.

Front Pediatr 2018 19;6:409. Epub 2018 Dec 19.

Department of Pediatrics, University Hospital of Cologne, Cologne, Germany.

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December 2018

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

Am J Hum Genet 2018 12 21;103(6):995-1008. Epub 2018 Nov 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, the Netherlands; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79112 Freiburg, Germany. Electronic address:

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December 2018

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.

Kidney Int Rep 2018 Nov 29;3(6):1454-1463. Epub 2018 Jul 29.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg, Germany.

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November 2018

Primary cilia-regulated transcriptome in the renal collecting duct.

FASEB J 2018 07 8;32(7):3653-3668. Epub 2018 Feb 8.

Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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July 2018

Accuracy of diagnostic testing in primary ciliary dyskinesia: are we there yet?

Eur Respir J 2016 Mar;47(3):699-701

Human Genetics Dept, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

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March 2016

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.

Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.

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August 2015

Clinical genetics and pathobiology of ciliary chondrodysplasias.

Authors:
Miriam Schmidts

J Pediatr Genet 2014 Nov;3(2):46-94

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany ; Genetics and Genomics Medicine, Institute of Child Health, University College London, London, UK.

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November 2014

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Hum Mol Genet 2015 Mar 30;24(5):1410-9. Epub 2014 Oct 30.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia

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March 2015

Development of an automated imaging pipeline for the analysis of the zebrafish larval kidney.

PLoS One 2013 4;8(12):e82137. Epub 2013 Dec 4.

Department of Pediatrics I, University Children's Hospital, University of Heidelberg, Heidelberg, Germany ;

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September 2014

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

Am J Hum Genet 2013 Sep 1;93(3):515-23. Epub 2013 Aug 1.

The University of Queensland Diamantina Institute, Translational Research Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia.

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September 2013

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene.

Case Rep Pediatr 2011 21;2011:369871. Epub 2011 Dec 21.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany.

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August 2012

The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1.

J Biol Chem 2003 Apr 10;278(15):13417-21. Epub 2003 Feb 10.

Renal Division, University Hospital Freiburg, Hugstetter Str. 55, 79106 Freiburg, Germany.

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April 2003