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Items: 26

1.

CiliaCarta: An integrated and validated compendium of ciliary genes.

van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, Leroux MR, Hjeij R, Horn N, Texier Y, Wissinger Y, van Reeuwijk J, Wheway G, Knapp B, Scheel JF, Franco B, Mans DA, van Wijk E, Képès F, Slaats GG, Toedt G, Kremer H, Omran H, Szymanska K, Koutroumpas K, Ueffing M, Nguyen TT, Letteboer SJF, Oud MM, van Beersum SEC, Schmidts M, Beales PL, Lu Q, Giles RH, Szklarczyk R, Russell RB, Gibson TJ, Johnson CA, Blacque OE, Wolfrum U, Boldt K, Roepman R, Hernandez-Hernandez V, Huynen MA.

PLoS One. 2019 May 16;14(5):e0216705. doi: 10.1371/journal.pone.0216705. eCollection 2019.

2.

Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study.

Radine A, Werner C, Raidt J, Dougherty GW, Kerschke L, Omran H, Grosse-Onnebrink J.

Respiration. 2019;97(1):60-69. doi: 10.1159/000493323. Epub 2018 Nov 8.

PMID:
30408808
3.

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.

4.

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.

5.

Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways.

Sigg MA, Menchen T, Lee C, Johnson J, Jungnickel MK, Choksi SP, Garcia G 3rd, Busengdal H, Dougherty GW, Pennekamp P, Werner C, Rentzsch F, Florman HM, Krogan N, Wallingford JB, Omran H, Reiter JF.

Dev Cell. 2017 Dec 18;43(6):744-762.e11. doi: 10.1016/j.devcel.2017.11.014.

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.

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.

8.

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.

9.

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.

10.

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
11.

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.

12.

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
13.

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.

14.

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.

15.

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
16.

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
17.

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.

18.

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.

19.

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.

20.

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.

21.

Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments.

Salles FT, Merritt RC Jr, Manor U, Dougherty GW, Sousa AD, Moore JE, Yengo CM, Dosé AC, Kachar B.

Nat Cell Biol. 2009 Apr;11(4):443-50. doi: 10.1038/ncb1851. Epub 2009 Mar 15.

22.

The Rsu-1-PINCH1-ILK complex is regulated by Ras activation in tumor cells.

Dougherty GW, Jose C, Gimona M, Cutler ML.

Eur J Cell Biol. 2008 Sep;87(8-9):721-34. doi: 10.1016/j.ejcb.2008.02.011. Epub 2008 Apr 23.

23.

CLAMP, a novel microtubule-associated protein with EB-type calponin homology.

Dougherty GW, Adler HJ, Rzadzinska A, Gimona M, Tomita Y, Lattig MC, Merritt RC Jr, Kachar B.

Cell Motil Cytoskeleton. 2005 Nov;62(3):141-56. Erratum in: Cell Motil Cytoskeleton. 2005 Dec;62(4):259.

PMID:
16206169
24.

The Ras suppressor Rsu-1 binds to the LIM 5 domain of the adaptor protein PINCH1 and participates in adhesion-related functions.

Dougherty GW, Chopp T, Qi SM, Cutler ML.

Exp Cell Res. 2005 May 15;306(1):168-79.

PMID:
15878342
25.

Expression of prestin, a membrane motor protein, in the mammalian auditory and vestibular periphery.

Adler HJ, Belyantseva IA, Merritt RC Jr, Frolenkov GI, Dougherty GW, Kachar B.

Hear Res. 2003 Oct;184(1-2):27-40.

PMID:
14553901
26.

Ectopic expression of Rsu-1 results in elevation of p21CIP and inhibits anchorage-independent growth of MCF7 breast cancer cells.

Vasaturo F, Dougherty GW, Cutler ML.

Breast Cancer Res Treat. 2000 May;61(1):69-78.

PMID:
10930091

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