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

Aprea, Isabella; Raidt, Johanna; Höben, Inga Marlena; Loges, Niki Tomas; Nöthe-Menchen, Tabea; Pennekamp, Petra; Olbrich, Heike; Kaiser, Thomas; Biebach, Luisa; Tüttelmann, Frank; Horvath, Judit; Schubert, Maria; Krallmann, Claudia; Kliesch, Sabine; Omran, Heymut (2021)

In: PLOS Genetics, 17(2).

Research article (journal)

DNAH11 localization in the proximal region of respiratory cilia defines distinct outer dynein arm complexes

Dougherty G., Loges N., Klinkenbusch J., Olbrich H., Pennekamp P., Menchen T., Raidt J., Wallmeier J., Werner C., Westermann C., Ruckert C., Mirra V., Hjeij R., Memari Y., Durbin R., Kolb-Kokocinski A., Praveen K., Kashef M., Kashef S., Eghtedari F., Häffner K., Valmari P., Baktai G., Aviram M., Bentur L., Amirav I., Davis E., Katsanis N., Brueckner M., Shaposhnykov A., Pigino G., Dworniczak B., Omran H. (2016)

In: American Journal of Respiratory Cell and Molecular Biology, 55(2).

Research article (journal)

Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer

Narasimhan V., Hjeij R., Vij S., Loges N., Wallmeier J., Koerner-Rettberg C., Werner C., Thamilselvam S., Boey A., Choksi S., Pennekamp P., Roy S., Omran H. (2015)

In: Human Mutation, 36(3).

Research article (journal)

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

Hjeij R., Onoufriadis A., Watson C., Slagle C., Klena N., Dougherty G., Kurkowiak M., Loges N., Diggle C., Morante N., Gabriel G., Lemke K., Li Y., Pennekamp P., Menchen T., Konert F., Marthin J., Mans D., Letteboer S., Werner C., Burgoyne T., Westermann C., Rutman A., Carr I., O'Callaghan C., Moya E., Chung E., Sheridan E., Nielsen K., Roepman R., Bartscherer K., Burdine R., Lo C., Omran H., Mitchison H. (2014)

In: American Journal of Human Genetics, 95(3).

Research article (journal)

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

Wirschell M., Olbrich H., Werner C., Tritschler D., Bower R., Sale W., Loges N., Pennekamp P., Lindberg S., Stenram U., Carlén B., Horak E., Köhler G., Nürnberg P., Nürnberg G., Porter M., Omran H. (2013)

In: Nature Genetics, 45(3).

Research article (journal)

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Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility. Aprea, I; Wilken, A; Krallmann, C; Nöthe-Menchen, T; Olbrich, H; Loges, NT; Dougherty, GW; Bracht, D; Brenker, C; Kliesch, S; Strünker, T; Tüttelmann, F; Raidt, J; Omran, H (2023) In: Frontiers in Genetics, 14. Research article (journal)
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility. Aprea, Isabella; Raidt, Johanna; Höben, Inga Marlena; Loges, Niki Tomas; Nöthe-Menchen, Tabea; Pennekamp, Petra; Olbrich, Heike; Kaiser, Thomas; Biebach, Luisa; Tüttelmann, Frank; Horvath, Judit; Schubert, Maria; Krallmann, Claudia; Kliesch, Sabine; Omran, Heymut (2021) In: PLOS Genetics, 17(2). Research article (journal)
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system. Aprea, Isabella; Nöthe-Menchen, Tabea; Dougherty, Gerard W; Raidt, Johanna; Loges, Niki T; Kaiser, Thomas; Wallmeier, Julia; Ulbrich, Heike; Strünker, Timo; Kliesch, Sabine; Pennekamp, Petra; Omran, Heymut (2021) In: Molecular Human Reproduction, 27(3). Research article (journal)
DNAH11 localization in the proximal region of respiratory cilia defines distinct outer dynein arm complexes Dougherty G., Loges N., Klinkenbusch J., Olbrich H., Pennekamp P., Menchen T., Raidt J., Wallmeier J., Werner C., Westermann C., Ruckert C., Mirra V., Hjeij R., Memari Y., Durbin R., Kolb-Kokocinski A., Praveen K., Kashef M., Kashef S., Eghtedari F., Häffner K., Valmari P., Baktai G., Aviram M., Bentur L., Amirav I., Davis E., Katsanis N., Brueckner M., Shaposhnykov A., Pigino G., Dworniczak B., Omran H. (2016) In: American Journal of Respiratory Cell and Molecular Biology, 55(2). Research article (journal)
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex Olbrich H., Cremers C., Loges N., Werner C., Nielsen K., Marthin J., Philipsen M., Wallmeier J., Pennekamp P., Menchen T., Edelbusch C., Dougherty G., Schwartz O., Thiele H., Altmüller J., Rommelmann F., Omran H. (2015) In: American Journal of Human Genetics, 97(4). Research article (journal)
Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer Narasimhan V., Hjeij R., Vij S., Loges N., Wallmeier J., Koerner-Rettberg C., Werner C., Thamilselvam S., Boey A., Choksi S., Pennekamp P., Roy S., Omran H. (2015) In: Human Mutation, 36(3). Research article (journal)
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia Wallmeier J., Al-Mutairi D., Chen C., Loges N., Pennekamp P., Menchen T., Ma L., Shamseldin H., Olbrich H., Dougherty G., Werner C., Alsabah B., Köhler G., Jaspers M., Boon M., Griese M., Schmitt-Grohé S., Zimmermann T., Koerner-Rettberg C., Horak E., Kintner C., Alkuraya F., Omran H. (2014) In: Nature Genetics, 46(6). Research article (journal)
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation Hjeij R., Onoufriadis A., Watson C., Slagle C., Klena N., Dougherty G., Kurkowiak M., Loges N., Diggle C., Morante N., Gabriel G., Lemke K., Li Y., Pennekamp P., Menchen T., Konert F., Marthin J., Mans D., Letteboer S., Werner C., Burgoyne T., Westermann C., Rutman A., Carr I., O'Callaghan C., Moya E., Chung E., Sheridan E., Nielsen K., Roepman R., Bartscherer K., Burdine R., Lo C., Omran H., Mitchison H. (2014) In: American Journal of Human Genetics, 95(3). Research article (journal)
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia Raidt J., Wallmeier J., Hjeij R., Onnebrink J., Pennekamp P., Loges N., Olbrich H., Häffner K., Dougherty G., Omran H., Werner C. (2014) In: European Respiratory Journal, 44(6). Research article (journal)
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans Wirschell M., Olbrich H., Werner C., Tritschler D., Bower R., Sale W., Loges N., Pennekamp P., Lindberg S., Stenram U., Carlén B., Horak E., Köhler G., Nürnberg P., Nürnberg G., Porter M., Omran H. (2013) In: Nature Genetics, 45(3). Research article (journal)