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
Type of Publication: 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)
Type of Publication: Research article (journal)

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S (2011)
In: Nature Genetics, 43(1)
Type of Publication: Research article (journal)

Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma.

Eisenhardt AE, Olbrich H, Röring M, Janzarik W, Van Anh TN, Cin H, Remke M, Witt H, Korshunov A, Pfister SM, Omran H, Brummer T (2010)
In: International Journal of Cancer, 129(9)
Type of Publication: Research article (journal)

Tandem duplications of 7q34 and 3q25 in pilocytic astrocytoma result in RAF fusion genes

Cin H, Meyer C, Witt H, Remke M, Janzarik W, Van Anh TN, Olbrich H, von Deimling A, Kulozik A, Marschalek R, Witt O, Omran H, Lichter P, Korshunov A, Pfister S (2010)
In: Klinische Pädiatrie, 222(3)
Type of Publication: 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 Type of Publication: 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) Type of Publication: 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) Type of Publication: Research article (journal)
ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities. Sommer JU, Schäfer K, Omran H, Olbrich H, Wallmeier J, Blum A, Hörmann K, Stuck BA (2011) In: European Archives of Oto-Rhino-Laryngology, 268(3) Type of Publication: Research article (journal)
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S (2011) In: Nature Genetics, 43(1) Type of Publication: Research article (journal)
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD (2011) In: Nature Genetics, 43(1) Type of Publication: Research article (journal)
Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma. Eisenhardt AE, Olbrich H, Röring M, Janzarik W, Van Anh TN, Cin H, Remke M, Witt H, Korshunov A, Pfister SM, Omran H, Brummer T (2010) In: International Journal of Cancer, 129(9) Type of Publication: Research article (journal)
Mutations in the dynein assembly factor PF22 cause primary ciliary dyskinesia with absent outer dynein arms Mitchison HM, Freshour J, Olbrich H, Blau H, Gardiner RM, Mussaffi H, Omran H, Chung EMK, Mitchell DR (2010) In: Journal of Medical Genetics, 47 Suppl. Type of Publication: Research article (journal)
Tandem duplications of 7q34 and 3q25 in pilocytic astrocytoma result in RAF fusion genes Cin H, Meyer C, Witt H, Remke M, Janzarik W, Van Anh TN, Olbrich H, von Deimling A, Kulozik A, Marschalek R, Witt O, Omran H, Lichter P, Korshunov A, Pfister S (2010) In: Klinische Pädiatrie, 222(3) Type of Publication: Research article (journal)
Zilienkrankheiten unter besonderer Berücksichtigung der primären ziliären Dyskinesie Omran H, Olbrich H (2010) In: Medizinische Genetik, 22(3) Type of Publication: Research article (journal)