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Items: 19

1.

Infant nasal NO over time; natural evolution and impact of respiratory tract infection.

Marthin JK, Philipsen MC, Rosthoj S, Nielsen KG.

Eur Respir J. 2018 May 10. pii: 1702503. doi: 10.1183/13993003.02503-2017. [Epub ahead of print] No abstract available.

PMID:
29748307
2.

Patient-specific three-dimensional explant spheroids derived from human nasal airway epithelium: a simple methodological approach for ex vivo studies of primary ciliary dyskinesia.

Marthin JK, Stevens EM, Larsen LA, Christensen ST, Nielsen KG.

Cilia. 2017 Mar 23;6:3. doi: 10.1186/s13630-017-0049-5. eCollection 2017.

3.

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.

4.

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.

5.

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.

6.

Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia.

Maglione M, Bush A, Nielsen KG, Hogg C, Montella S, Marthin JK, Di Giorgio A, Santamaria F.

Pediatr Pulmonol. 2014 Dec;49(12):1243-50. doi: 10.1002/ppul.22984. Epub 2014 Jan 13.

PMID:
24420929
7.

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Moore DJ, Onoufriadis A, Shoemark A, Simpson MA, zur Lage PI, de Castro SC, Bartoloni L, Gallone G, Petridi S, Woollard WJ, Antony D, Schmidts M, Didonna T, Makrythanasis P, Bevillard J, Mongan NP, Djakow J, Pals G, Lucas JS, Marthin JK, Nielsen KG, Santoni F, Guipponi M, Hogg C, Antonarakis SE, Emes RD, Chung EM, Greene ND, Blouin JL, Jarman AP, Mitchison HM.

Am J Hum Genet. 2013 Aug 8;93(2):346-56. doi: 10.1016/j.ajhg.2013.07.009. Epub 2013 Jul 25.

8.

Hand-held tidal breathing nasal nitric oxide measurement--a promising targeted case-finding tool for the diagnosis of primary ciliary dyskinesia.

Marthin JK, Nielsen KG.

PLoS One. 2013;8(2):e57262. doi: 10.1371/journal.pone.0057262. Epub 2013 Feb 20.

9.

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.

10.

Ventilation inhomogeneity in children with primary ciliary dyskinesia.

Green K, Buchvald FF, Marthin JK, Hanel B, Gustafsson PM, Nielsen KG.

Thorax. 2012 Jan;67(1):49-53. doi: 10.1136/thoraxjnl-2011-200726. Epub 2011 Sep 26.

PMID:
21953064
11.

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.

12.

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.

14.

Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia.

Marthin JK, Nielsen KG.

Eur Respir J. 2011 Mar;37(3):559-65. doi: 10.1183/09031936.00032610. Epub 2010 Jun 4.

15.

Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study.

Marthin JK, Petersen N, Skovgaard LT, Nielsen KG.

Am J Respir Crit Care Med. 2010 Jun 1;181(11):1262-8. doi: 10.1164/rccm.200811-1731OC. Epub 2010 Feb 18.

PMID:
20167855
16.

[Chronic pulmonary alterations in children with long-lasting productive cough].

Foghsgaard J, Nir M, Marthin JK, Bach K, Hansen H.

Ugeskr Laeger. 2009 Jan 26;171(5):322-4. Danish.

PMID:
19176166
17.

Pulmonary radioaerosol mucociliary clearance in diagnosis of primary ciliary dyskinesia.

Marthin JK, Mortensen J, Pressler T, Nielsen KG.

Chest. 2007 Sep;132(3):966-76. Epub 2007 Jul 23.

PMID:
17646235
18.

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