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Items: 50

1.

SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics.

Cindrić S, Dougherty GW, Olbrich H, Hjeij R, Loges NT, Amirav I, Philipsen MC, Marthin JK, Nielsen KG, Sutharsan S, Raidt J, Werner C, Pennekamp P, Dworniczak B, Omran H.

Am J Respir Cell Mol Biol. 2019 Sep 23. doi: 10.1165/rcmb.2019-0086OC. [Epub ahead of print]

PMID:
31545650
2.

Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil.

Olm MAK, Marson FAL, Athanazio RA, Nakagawa NK, Macchione M, Loges NT, Omran H, Rached SZ, Bertuzzo CS, Stelmach R, Saldiva PHN, Ribeiro JD, Jones MH, Mauad T.

Sci Rep. 2019 Jun 18;9(1):8693. doi: 10.1038/s41598-019-45017-1.

3.

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

Loges NT, Antony D, Maver A, Deardorff MA, Güleç EY, Gezdirici A, Nöthe-Menchen T, Höben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Čuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M.

Am J Hum Genet. 2018 Dec 6;103(6):995-1008. doi: 10.1016/j.ajhg.2018.10.020. Epub 2018 Nov 21.

4.

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.

Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJF, Antony D, Darwish A, Mans DA, Spittler S, Edelbusch C, Cindrić S, Nöthe-Menchen T, Olbrich H, Stuhlmann F, Aprea I, Pennekamp P, Loges NT, Breuer O, Shaag A, Rein AJJT, Gulec EY, Gezdirici A, Abitbul R, Elias N, Amirav I, Schmidts M, Roepman R, Elpeleg O, Omran H.

PLoS Genet. 2018 Aug 27;14(8):e1007602. doi: 10.1371/journal.pgen.1007602. eCollection 2018 Aug.

5.

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H.

Am J Hum Genet. 2018 May 3;102(5):973-984. doi: 10.1016/j.ajhg.2018.03.025.

6.

Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.

Edelbusch C, Cindrić S, Dougherty GW, Loges NT, Olbrich H, Rivlin J, Wallmeier J, Pennekamp P, Amirav I, Omran H.

Hum Mutat. 2017 Aug;38(8):964-969. doi: 10.1002/humu.23261. Epub 2017 Jun 15.

PMID:
28543983
7.

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

van den Bruck R, Weil PP, Ziegenhals T, Schreiner P, Juranek S, Gödde D, Vogel S, Schuster F, Orth V, Dörner J, Pembaur D, Röper M, Störkel S, Zirngibl H, Wirth S, Jenke ACW, Postberg J, Boy N, Heringer J, Haege G, Glahn EM, Hoffmann GF, Garbade SF, Burgard P, Kölker S, Chao CM, Yahya F, Moiseenko A, Shrestha A, Ahmadvand N, Quantius J, Wilhelm J, El-Agha E, Zimmer KP, Bellusci S, Staufner C, Kölker S, Prokisch H, Hoffmann GF, Seeliger S, Müller M, Hippe A, Steinkraus H, Wauer R, Lachmann B, Hofmann SR, Hedrich CM, Zierk J, Arzideh F, Haeckel R, Rascher W, Rauh M, Metzler M, Thieme S, Bandoła J, Richter C, Ryser M, Jamal A, Ashton MP, von Bonin M, Kuhn M, Hedrich CM, Bonifacio E, Berner R, Brenner S, Hammersen J, Has C, Naumann-Bartsch N, Stachel D, Kiritsi D, Söder S, Tardieu M, Metzler M, Bruckner-Tuderman L, Schneider H, Bohne F, Langer D, Cencic R, Eggermann T, Zechner U, Pelletier J, Zepp F, Enklaar T, Prawitt D, Pech M, Weckmann M, Heinsen FA, Franke A, Happle C, Dittrich AM, Hansen G, Fuchs O, von Mutius E, Oliver BG, Kopp MV, Paret C, Russo A, Theruvath J, Keller B, El Malki K, Lehmann N, Wingerter A, Neu MA, Aslihan GA, Wagner W, Sommer C, Pietsch T, Seidmann L, Faber J, Schreiner F, Ackermann M, Michalik M, Rother E, Bilkei-Gorzo A, Racz I, Bindila L, Lutz B, Dötsch J, Zimmer A, Woelfle J, Fischer HS, Ullrich TL, Bührer C, Czernik C, Schmalisch G, Stein R, Hofmann SR, Hagenbuchner J, Kiechl-Kohlendorfer U, Obexer P, Ausserlechner MJ, Loges NT, Frommer AT, Wallmeier J, Omran H, Öner-Sieben S, Gimpfl M, Rozman J, Irmler M, Beckers J, De Angelis MH, Roscher A, Wolf E, Ensenauer R, Nemes K, Frühwald M, Hasselblatt M, Siebert R, Kordes U, Kool M, Wang H, Hardy H, Refai O, Barwick KES, Zimmerman HH, Weis J, Baple EL, Crosby AH, Cirak S, Hellmuth C, Uhl O, Standl M, Heinrich J, Thiering E, Koletzko B, Blümel L, Kerl K, Picard D, Frühwald MC, Liebau MC, Reifenberger G, Borkhardt A, Hasselblatt M, Remke M, Tews D, Wabitsch M, Fischer-Posovszky P, Westhoff MA, Nonnenmacher L, Langhans J, Schneele L, Trenkler N, Debatin KM.

Mol Cell Pediatr. 2017 May;4(Suppl 1):5. doi: 10.1186/s40348-017-0071-0. No abstract available.

8.

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.

Paff T, Loges NT, Aprea I, Wu K, Bakey Z, Haarman EG, Daniels JMA, Sistermans EA, Bogunovic N, Dougherty GW, Höben IM, Große-Onnebrink J, Matter A, Olbrich H, Werner C, Pals G, Schmidts M, Omran H, Micha D.

Am J Hum Genet. 2017 Jan 5;100(1):160-168. doi: 10.1016/j.ajhg.2016.11.019. Epub 2016 Dec 29.

9.

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities.

Amirav I, Roduta Roberts M, Mussaffi H, Mandelberg A, Roth Y, Abitbul R, Luder A, Blau H, Alkrinawi S, Aviram M, Ben-Ami M, Rotschild M, Bentur L, Shoseyov D, Cohen-Cymberknoh M, Kerem E, Avital A, Springer C, Hevroni A, Dabbah H, Elizur A, Picard E, Goldberg S, Rivlin J, Livnat G, Lavie M, Alias N, Soferman R, Olbrich H, Raidt J, Wallmeier J, Werner C, Loges NT, Omran H.

Version 2. F1000Res. 2016 Aug 18 [revised 2016 Jan 1];5:2031. eCollection 2016.

10.

Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices.

Abitbul R, Amirav I, Blau H, Alkrinawi S, Aviram M, Shoseyov D, Bentur L, Avital A, Springer C, Lavie M, Prais D, Dabbah H, Elias N, Elizur A, Goldberg S, Hevroni A, Kerem E, Luder A, Roth Y, Cohen-Cymberknoh M, Ben Ami M, Mandelberg A, Livnat G, Picard E, Rivlin J, Rotschild M, Soferman R, Loges NT, Olbrich H, Werner C, Wolter A, Herting M, Wallmeier J, Raidt J, Omran H, Mussaffi H.

Respir Med. 2016 Oct;119:41-47. doi: 10.1016/j.rmed.2016.08.015. Epub 2016 Aug 23.

11.

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization.

Wallmeier J, Shiratori H, Dougherty GW, Edelbusch C, Hjeij R, Loges NT, Menchen T, Olbrich H, Pennekamp P, Raidt J, Werner C, Minegishi K, Shinohara K, Asai Y, Takaoka K, Lee C, Griese M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Wallingford JB, Hamada H, Omran H.

Am J Hum Genet. 2016 Aug 4;99(2):460-9. doi: 10.1016/j.ajhg.2016.06.014.

12.

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes.

Dougherty GW, Loges NT, Klinkenbusch JA, 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 MA, Kashef S, Eghtedari F, Häffner K, Valmari P, Baktai G, Aviram M, Bentur L, Amirav I, Davis EE, Katsanis N, Brueckner M, Shaposhnykov A, Pigino G, Dworniczak B, Omran H.

Am J Respir Cell Mol Biol. 2016 Aug;55(2):213-24. doi: 10.1165/rcmb.2015-0353OC.

13.

Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.

Amirav I, Wallmeier J, Loges NT, Menchen T, Pennekamp P, Mussaffi H, Abitbul R, Avital A, Bentur L, Dougherty GW, Nael E, Lavie M, Olbrich H, Werner C, Kintner C, Omran H; Israeli PCD Consortium Investigators.

Hum Mutat. 2016 Apr;37(4):396-405. doi: 10.1002/humu.22957. Epub 2016 Feb 4.

PMID:
26777464
14.

Effect of TH2 cytokines and interferon gamma on beat frequency of human respiratory cilia.

Grosse-Onnebrink J, Werner C, Loges NT, Hörmann K, Blum A, Schmidt R, Olbrich H, Omran H.

Pediatr Res. 2016 May;79(5):731-5. doi: 10.1038/pr.2016.8. Epub 2016 Jan 13.

PMID:
26761121
15.

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmüller J, Rommelmann F, Omran H.

Am J Hum Genet. 2015 Oct 1;97(4):546-54. doi: 10.1016/j.ajhg.2015.08.012. Epub 2015 Sep 17.

16.

Ciliary function and motor protein composition of human fallopian tubes.

Raidt J, Werner C, Menchen T, Dougherty GW, Olbrich H, Loges NT, Schmitz R, Pennekamp P, Omran H.

Hum Reprod. 2015 Dec;30(12):2871-80. doi: 10.1093/humrep/dev227. Epub 2015 Sep 15.

PMID:
26373788
17.

The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin.

Epting D, Slanchev K, Boehlke C, Hoff S, Loges NT, Yasunaga T, Indorf L, Nestel S, Lienkamp SS, Omran H, Kuehn EW, Ronneberger O, Walz G, Kramer-Zucker A.

Development. 2015 Apr 15;142(8):1553. doi: 10.1242/dev.124214. No abstract available.

18.

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H.

Am J Respir Cell Mol Biol. 2015 Oct;53(4):563-73. doi: 10.1165/rcmb.2014-0483OC.

19.

The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin.

Epting D, Slanchev K, Boehlke C, Hoff S, Loges NT, Yasunaga T, Indorf L, Nestel S, Lienkamp SS, Omran H, Kuehn EW, Ronneberger O, Walz G, Kramer-Zucker A.

Development. 2015 Jan 1;142(1):174-84. doi: 10.1242/dev.112250. Erratum in: Development. 2015 Apr 15;142(8):1553.

20.

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 NT, Wallmeier J, Koerner-Rettberg C, Werner C, Thamilselvam SK, Boey A, Choksi SP, Pennekamp P, Roy S, Omran H.

Hum Mutat. 2015 Mar;36(3):307-18. doi: 10.1002/humu.22738.

PMID:
25504577
21.

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

Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM; UK10K Consortium, Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM.

Am J Hum Genet. 2014 Sep 4;95(3):257-74. doi: 10.1016/j.ajhg.2014.08.005.

22.

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

Raidt J, Wallmeier J, Hjeij R, Onnebrink JG, Pennekamp P, Loges NT, Olbrich H, Häffner K, Dougherty GW, Omran H, Werner C.

Eur Respir J. 2014 Dec;44(6):1579-88. doi: 10.1183/09031936.00052014. Epub 2014 Sep 3.

23.

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.

Boon M, Wallmeier J, Ma L, Loges NT, Jaspers M, Olbrich H, Dougherty GW, Raidt J, Werner C, Amirav I, Hevroni A, Abitbul R, Avital A, Soferman R, Wessels M, O'Callaghan C, Chung EM, Rutman A, Hirst RA, Moya E, Mitchison HM, Van Daele S, De Boeck K, Jorissen M, Kintner C, Cuppens H, Omran H.

Nat Commun. 2014 Jul 22;5:4418. doi: 10.1038/ncomms5418.

PMID:
25048963
24.

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.

Wallmeier J, Al-Mutairi DA, Chen CT, Loges NT, Pennekamp P, Menchen T, Ma L, Shamseldin HE, Olbrich H, Dougherty GW, Werner C, Alsabah BH, Köhler G, Jaspers M, Boon M, Griese M, Schmitt-Grohé S, Zimmermann T, Koerner-Rettberg C, Horak E, Kintner C, Alkuraya FS, Omran H.

Nat Genet. 2014 Jun;46(6):646-51. doi: 10.1038/ng.2961. Epub 2014 Apr 20.

PMID:
24747639
25.

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath JD, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F.

Am J Hum Genet. 2013 Oct 3;93(4):672-86. doi: 10.1016/j.ajhg.2013.08.015.

26.

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA.

Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.

27.

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F.

Am J Hum Genet. 2013 Aug 8;93(2):336-45. doi: 10.1016/j.ajhg.2013.06.007. Epub 2013 Jul 25.

28.

DYX1C1 is required for axonemal dynein assembly and ciliary motility.

Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Köhler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K; UK10K, Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H.

Nat Genet. 2013 Sep;45(9):995-1003. doi: 10.1038/ng.2707. Epub 2013 Jul 21.

29.

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H.

Am J Hum Genet. 2013 Aug 8;93(2):357-67. doi: 10.1016/j.ajhg.2013.06.009. Epub 2013 Jul 11.

30.

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 WS, Loges NT, Pennekamp P, Lindberg S, Stenram U, Carlén B, Horak E, Köhler G, Nürnberg P, Nürnberg G, Porter ME, Omran H.

Nat Genet. 2013 Mar;45(3):262-8. doi: 10.1038/ng.2533. Epub 2013 Jan 27.

31.

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM.

Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11.

32.

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.

Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al Turki S, Hurles ME; UK10K Consortium, Köhler G, Schroeder J, Nürnberg G, Nürnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H.

Am J Hum Genet. 2012 Oct 5;91(4):672-84. doi: 10.1016/j.ajhg.2012.08.016. Epub 2012 Sep 27.

33.

RPGR mutations might cause reduced orientation of respiratory cilia.

Bukowy-Bieryłło Z, Ziętkiewicz E, Loges NT, Wittmer M, Geremek M, Olbrich H, Fliegauf M, Voelkel K, Rutkiewicz E, Rutland J, Morgan L, Pogorzelski A, Martin J, Haan E, Berger W, Omran H, Witt M.

Pediatr Pulmonol. 2013 Apr;48(4):352-63. doi: 10.1002/ppul.22632. Epub 2012 Aug 6.

PMID:
22888088
34.

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.

Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Häffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA.

Nat Genet. 2012 May 13;44(6):714-9. doi: 10.1038/ng.2277.

35.

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR.

Nat Genet. 2012 Mar 4;44(4):381-9, S1-2. doi: 10.1038/ng.1106.

36.

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium.

Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18.

37.

Lethal phenotype of mice carrying a Sept11 null mutation.

Röseler S, Sandrock K, Bartsch I, Busse A, Omran H, Loges NT, Zieger B.

Biol Chem. 2011 Aug;392(8-9):779-81. doi: 10.1515/BC.2011.093.

PMID:
21824005
38.

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.

Nat Genet. 2011 Jan;43(1):79-84. doi: 10.1038/ng.727. Epub 2010 Dec 5.

39.

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.

Nat Genet. 2011 Jan;43(1):72-8. doi: 10.1038/ng.726. Epub 2010 Dec 5.

40.

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

Loges NT, Olbrich H, Becker-Heck A, Häffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nürnberg G, Nürnberg P, Reinhardt R, Omran H.

Am J Hum Genet. 2009 Dec;85(6):883-9. doi: 10.1016/j.ajhg.2009.10.018.

41.

Initiation and maturation of cilia-generated flow in newborn and postnatal mouse airway.

Francis RJ, Chatterjee B, Loges NT, Zentgraf H, Omran H, Lo CW.

Am J Physiol Lung Cell Mol Physiol. 2009 Jun;296(6):L1067-75. doi: 10.1152/ajplung.00001.2009. Epub 2009 Apr 3.

42.

Immunofluorescence staining of ciliated respiratory epithelial cells.

Omran H, Loges NT.

Methods Cell Biol. 2009;91:123-33. doi: 10.1016/S0091-679X(08)91007-4. Epub 2009 Dec 1.

PMID:
20409784
43.

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.

Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R, Mitchell DR, Takeda H.

Nature. 2008 Dec 4;456(7222):611-6. doi: 10.1038/nature07471.

44.

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H.

Am J Hum Genet. 2008 Nov;83(5):547-58. doi: 10.1016/j.ajhg.2008.10.001. Epub 2008 Oct 23.

45.

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L.

Hum Mutat. 2008 Feb;29(2):289-98.

PMID:
18022865
46.

Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma.

Janzarik WG, Kratz CP, Loges NT, Olbrich H, Klein C, Schäfer T, Scheurlen W, Roggendorf W, Weiller C, Niemeyer C, Korinthenberg R, Pfister S, Omran H.

Neuropediatrics. 2007 Apr;38(2):61-3.

PMID:
17712732
47.

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR.

Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. Epub 2006 Jul 20.

48.

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nüsslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H.

Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6. Epub 2006 Apr 20.

49.

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.

Olbrich H, Horváth J, Fekete A, Loges NT, Storm van's Gravesande K, Blum A, Hörmann K, Omran H.

Pediatr Res. 2006 Mar;59(3):418-22.

PMID:
16492982
50.

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H.

Am J Hum Genet. 2006 Mar;78(3):401-9. Epub 2006 Jan 18.

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