Verbesserung der diagnostischen Algorithmen bei Primärer Ciliärer Dyskinesie mit normaler Ultrastruktur

Autor: J Raidt, H Krenz, J Tebbe, J Große-Onnebrink, H Olbrich, NT Loges, L Biebach, C Schmalstieg, C Keßler, J Wallmeier, B Dworniczak, P Pennekamp, M Dugas, C Werner, H Omran

Publikováno v: Klinische Pädiatrie.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fa7acb8143050c8316648f01045a2d0b
https://doi.org/10.1055/s-0042-1754491

Pathogenic variants in CFAP46 , CFAP54 , CFAP74 , and CFAP221 cause Primary Ciliary Dyskinesia with a defective C1d projection of the central apparatus.

Autor: Wohlgemuth K; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.; These authors contributed equally to this work., Hoersting N; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.; These authors contributed equally to this work., Koenig J; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Loges NT; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Raidt J; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., George S; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Cindrić S; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Schramm A; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Biebach L; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Lay S; Department of Pediatric Pneumology and Allergology, Fachkliniken Wangen, Wangen, Germany., Dougherty GW; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Olbrich H; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Pennekamp P; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Dworniczak B; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Omran H; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany heymut.omran@ukmuenster.de.

Publikováno v: The European respiratory journal [Eur Respir J] 2024 Oct 03. Date of Electronic Publication: 2024 Oct 03.

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.

Autor: Dougherty GW; Department of General Pediatrics., Ostrowski LE; Department of Pediatrics.; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Nöthe-Menchen T; Department of General Pediatrics., Raidt J; Department of General Pediatrics., Schramm A; Department of General Pediatrics., Olbrich H; Department of General Pediatrics., Yin W; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Sears PR; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Dang H; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Smith AJ; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Beule AG; Department of Otorhinolaryngology, and., Hjeij R; Department of General Pediatrics., Rutjes N; Department of Pediatric Pulmonology and Allergy, Emma Children's Hospital, Amsterdam, the Netherlands., Haarman EG; Department of Pediatric Pulmonology and Allergy, Emma Children's Hospital, Amsterdam, the Netherlands., Maas SM; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Ferkol TW; Department of Pediatrics., Noone PG; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center.; Department of Medicine., Olivier KN; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center.; Department of Medicine., Bracht DC; Department of General Pediatrics., Barbry P; Université Côte d'Azur, CNRS, Institut Pharmacologie Moléculaire et Cellulaire, Sophia-Antipolis, France., Zaragosi LE; Université Côte d'Azur, CNRS, Institut Pharmacologie Moléculaire et Cellulaire, Sophia-Antipolis, France., Fierville M; Université Côte d'Azur, CNRS, Institut Pharmacologie Moléculaire et Cellulaire, Sophia-Antipolis, France., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Muenster, Muenster, Germany., Wohlgemuth K; Department of General Pediatrics., König J; Department of General Pediatrics., George S; Department of General Pediatrics., Loges NT; Department of General Pediatrics., Ceppe A; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Markovetz MR; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center., Luo H; Department of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, Changsha, China., Guo T; Department of Pulmonary and Critical Care Medicine, the Second Xiangya Hospital, Central South University, Changsha, China., Rizk H; Department of Pediatrics, Faculty of Medicine, University of Mansoura, Mansoura, Egypt., Eldesoky T; Department of Pediatrics, Faculty of Medicine, University of Mansoura, Mansoura, Egypt., Dahlke K; Institute for Ophthalmic Research and Core Facility for Medical Proteomics, Tübingen, Germany.; Eberhard Karls University Tübingen, Tübingen, Germany; and., Boldt K; Institute for Ophthalmic Research and Core Facility for Medical Proteomics, Tübingen, Germany.; Eberhard Karls University Tübingen, Tübingen, Germany; and., Ueffing M; Institute for Ophthalmic Research and Core Facility for Medical Proteomics, Tübingen, Germany.; Eberhard Karls University Tübingen, Tübingen, Germany; and., Hill DB; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center.; Department of Physics and Astronomy, and., Pang YP; Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota., Knowles MR; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center.; Department of Medicine., Zariwala MA; Marsico Lung Institute/Cystic Fibrosis Research and Treatment Center.; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Omran H; Department of General Pediatrics.

Publikováno v: American journal of respiratory and critical care medicine [Am J Respir Crit Care Med] 2024 Jul 01; Vol. 210 (1), pp. 63-76.

Pathogenic gene variants in CCDC39 , CCDC40 , RSPH1 , RSPH9 , HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.

Autor: Aprea I; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Wilken A; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Krallmann C; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany., Nöthe-Menchen T; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Olbrich H; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Loges NT; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Dougherty GW; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Bracht D; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Brenker C; Centre of Reproductive Medicine and Andrology, University Hospital Münster, University of Münster, Münster, Germany., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany., Strünker T; Centre of Reproductive Medicine and Andrology, University Hospital Münster, University of Münster, Münster, Germany., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Raidt J; Department of General Pediatrics, University Hospital Münster, Münster, Germany., Omran H; Department of General Pediatrics, University Hospital Münster, Münster, Germany.

Publikováno v: Frontiers in genetics [Front Genet] 2023 Feb 17; Vol. 14, pp. 1117821. Date of Electronic Publication: 2023 Feb 17 (Print Publication: 2023).

Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system.

Autor: Aprea I; Department of General Pediatrics, University Hospital Muenster, Muenster 48149, Germany., Nöthe-Menchen T; Department of General Pediatrics, University Hospital Muenster, Muenster 48149, Germany., Dougherty GW; Department of General Pediatrics, University Hospital Muenster, Muenster 48149, Germany., Raidt J; Department of General Pediatrics, University Hospital Muenster, Muenster 48149, Germany., Loges NT; Department of General Pediatrics, University Hospital Muenster, Muenster 48149, Germany., Kaiser T; Department of General Pediatrics, University Hospital Muenster, Muenster 48149, Germany., Wallmeier J; Department of General Pediatrics, University Hospital Muenster, Muenster 48149, Germany., Olbrich H; Department of General Pediatrics, University Hospital Muenster, Muenster 48149, Germany., Strünker T; Department of Clinical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Muenster, Muenster 48149, Germany., Kliesch S; Department of Clinical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Muenster, Muenster 48149, Germany., Pennekamp P; Department of General Pediatrics, University Hospital Muenster, Muenster 48149, Germany., Omran H; Department of General Pediatrics, University Hospital Muenster, Muenster 48149, Germany.

Publikováno v: Molecular human reproduction [Mol Hum Reprod] 2021 Feb 27; Vol. 27 (3).