Isabella Aprea

Affiliations

Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.

Publications (8)

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

American journal of human genetics

Avec: 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

Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Rim Hjeij , Isabella Aprea , Marco Poeta , Tabea Nöthe-Menchen , Diana Bracht , Johanna Raidt , Barbara I Honecker , Gerard W Dougherty , Heike Olbrich , Oliver Schwartz , Ulrike Keller , Harald Nüsse , Karin E M Diderich , Christian Vogelberg , Francesca Santamaria , Heymut Omran

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in

Cells

Avec: Alina Wilken , Inga Marlena Höben , Alexander Wolter , Niki Tomas Loges , Heike Olbrich , Isabella Aprea , Bernd Dworniczak , Johanna Raidt , Heymut Omran

Pathogenic gene variants in

Frontiers in genetics

Avec: I Aprea , A Wilken , C Krallmann , T Nöthe-Menchen , H Olbrich , N T Loges , G W Dougherty , D Bracht , C Brenker , S Kliesch , T Strünker , F Tüttelmann , J Raidt , H Omran

Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.

PLoS genetics

Avec: Isabella Aprea , Johanna Raidt , Inga Marlena Höben , Niki Tomas Loges , Tabea Nöthe-Menchen , Petra Pennekamp , Heike Olbrich , Thomas Kaiser , Luisa Biebach , Frank Tüttelmann , Judit Horvath , Maria Schubert , Claudia Krallmann , Sabine Kliesch , Heymut Omran

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.

Nature communications

Avec: Gerard W Dougherty , Katsutoshi Mizuno , Tabea Nöthe-Menchen , Yayoi Ikawa , Karsten Boldt , Asaf Ta-Shma , Isabella Aprea , Katsura Minegishi , Yuan-Ping Pang , Petra Pennekamp , Niki T Loges , Johanna Raidt , Rim Hjeij , Julia Wallmeier , Huda Mussaffi , Zeev Perles , Orly Elpeleg , Franziska Rabert , Hidetaka Shiratori , Stef J Letteboer , Nicola Horn , Samuel Young , Timo Strünker , Friederike Stumme , Claudius Werner , Heike Olbrich , Katsuyoshi Takaoka , Takahiro Ide , Wang Kyaw Twan , Luisa Biebach , Jörg Große-Onnebrink , Judith A Klinkenbusch , Kavita Praveen , Diana C Bracht , Inga M Höben , Katrin Junger , Jana Gützlaff , Sandra Cindrić , Micha Aviram , Thomas Kaiser , Yasin Memari , Petras P Dzeja , Bernd Dworniczak , Marius Ueffing , Ronald Roepman , Kerstin Bartscherer , Nicholas Katsanis , Erica E Davis , Israel Amirav , Hiroshi Hamada , Heymut Omran

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

Molecular human reproduction

Avec: Isabella Aprea , Tabea Nöthe-Menchen , Gerard W Dougherty , Johanna Raidt , Niki T Loges , Thomas Kaiser , Julia Wallmeier , Heike Olbrich , Timo Strünker , Sabine Kliesch , Petra Pennekamp , Heymut Omran

A range of 30%-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.

The European respiratory journal

Avec: Niki T Loges , June Kehlet Marthin , Johanna Raidt , Heike Olbrich , Inga M Höben , Sandra Cindric , Diana Bracht , Julia König , Cynthia Rieck , Sebastian George , Tim Luis Kloth , Kai Wohlgemuth , Petra Pennekamp , Bernd Dworniczak , Mathias G Holgersen , Jobst Römel , Christian Schmalstieg , Isabella Aprea , Jann Mortensen , Kim G Nielsen , Heymut Omran

Réseau de co-auteurs

Heike Olbrich 7 collaborations

Heymut Omran 7 collaborations

Johanna Raidt 6 collaborations

Tabea Nöthe-Menchen 5 collaborations

Petra Pennekamp 5 collaborations

Niki T Loges 4 collaborations

Gerard W Dougherty 4 collaborations

Thomas Kaiser 4 collaborations

Julia Wallmeier 3 collaborations

Bernd Dworniczak 3 collaborations

Sandra Cindric 2 collaborations

Christian Vogelberg 2 collaborations

Rim Hjeij 2 collaborations

Diana Bracht 2 collaborations

Inga Marlena Höben 2 collaborations

Niki Tomas Loges 2 collaborations

Luisa Biebach 2 collaborations

Sabine Kliesch 2 collaborations

Timo Strünker 2 collaborations

Inga M Höben 2 collaborations

Diana Frank 1 collaboration

Amelia Shoemark 1 collaboration

Hannah M Mitchison 1 collaboration

Claire Hogg 1 collaboration

Siobhán B Carr 1 collaboration

Maimoona A Zariwala 1 collaboration

Thomas Ferkol 1 collaboration

Margaret W Leigh 1 collaboration

Stephanie D Davis 1 collaboration

Jeffrey Atkinson 1 collaboration

Susan K Dutcher 1 collaboration

Michael R Knowles 1 collaboration

Holger Thiele 1 collaboration

Janine Altmüller 1 collaboration

Henrike Krenz 1 collaboration

Marius Wöste 1 collaboration

Angela Brentrup 1 collaboration

Frank Ahrens 1 collaboration

Deborah J Morris-Rosendahl 1 collaboration

Marco Poeta 1 collaboration

Barbara I Honecker 1 collaboration

Oliver Schwartz 1 collaboration

Ulrike Keller 1 collaboration

Harald Nüsse 1 collaboration

Karin E M Diderich 1 collaboration

Francesca Santamaria 1 collaboration

Alina Wilken 1 collaboration

Alexander Wolter 1 collaboration

I Aprea 1 collaboration

A Wilken 1 collaboration

C Krallmann 1 collaboration

T Nöthe-Menchen 1 collaboration

H Olbrich 1 collaboration

N T Loges 1 collaboration

G W Dougherty 1 collaboration

D Bracht 1 collaboration

C Brenker 1 collaboration

S Kliesch 1 collaboration

T Strünker 1 collaboration

F Tüttelmann 1 collaboration

J Raidt 1 collaboration

H Omran 1 collaboration

Frank Tüttelmann 1 collaboration

Judit Horvath 1 collaboration

Maria Schubert 1 collaboration

Claudia Krallmann 1 collaboration

Katsutoshi Mizuno 1 collaboration

Yayoi Ikawa 1 collaboration

Karsten Boldt 1 collaboration

Asaf Ta-Shma 1 collaboration

Katsura Minegishi 1 collaboration

Yuan-Ping Pang 1 collaboration

Huda Mussaffi 1 collaboration

Zeev Perles 1 collaboration

Orly Elpeleg 1 collaboration

Franziska Rabert 1 collaboration

Hidetaka Shiratori 1 collaboration

Stef J Letteboer 1 collaboration

Nicola Horn 1 collaboration

Samuel Young 1 collaboration

Friederike Stumme 1 collaboration

Claudius Werner 1 collaboration

Katsuyoshi Takaoka 1 collaboration

Takahiro Ide 1 collaboration

Wang Kyaw Twan 1 collaboration

Jörg Große-Onnebrink 1 collaboration

Judith A Klinkenbusch 1 collaboration

Kavita Praveen 1 collaboration

Diana C Bracht 1 collaboration

Katrin Junger 1 collaboration

Jana Gützlaff 1 collaboration

Sandra Cindrić 1 collaboration

Micha Aviram 1 collaboration

Yasin Memari 1 collaboration

Petras P Dzeja 1 collaboration

Marius Ueffing 1 collaboration

Ronald Roepman 1 collaboration

Kerstin Bartscherer 1 collaboration

Nicholas Katsanis 1 collaboration

Erica E Davis 1 collaboration

Israel Amirav 1 collaboration

Hiroshi Hamada 1 collaboration

June Kehlet Marthin 1 collaboration

Julia König 1 collaboration

Cynthia Rieck 1 collaboration

Sebastian George 1 collaboration

Tim Luis Kloth 1 collaboration

Kai Wohlgemuth 1 collaboration

Mathias G Holgersen 1 collaboration

Jobst Römel 1 collaboration

Christian Schmalstieg 1 collaboration

Jann Mortensen 1 collaboration

Kim G Nielsen 1 collaboration