374 related articles for article (PubMed ID: 32996775)
1. PCD Detect: enhancing ciliary features through image averaging and classification.
Shoemark A; Pinto AL; Patel MP; Daudvohra F; Hogg C; Mitchison HM; Burgoyne T
Am J Physiol Lung Cell Mol Physiol; 2020 Dec; 319(6):L1048-L1060. PubMed ID: 32996775
[TBL] [Abstract][Full Text] [Related]
2. 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; 103(6):995-1008. PubMed ID: 30471718
[TBL] [Abstract][Full Text] [Related]
3. 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; 93(4):711-20. PubMed ID: 24055112
[TBL] [Abstract][Full Text] [Related]
4. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
Fassad MR; Shoemark A; Legendre M; Hirst RA; Koll F; le Borgne P; Louis B; Daudvohra F; Patel MP; Thomas L; Dixon M; Burgoyne T; Hayes J; Nicholson AG; Cullup T; Jenkins L; Carr SB; Aurora P; Lemullois M; Aubusson-Fleury A; Papon JF; O'Callaghan C; Amselem S; Hogg C; Escudier E; Tassin AM; Mitchison HM
Am J Hum Genet; 2018 Dec; 103(6):984-994. PubMed ID: 30471717
[TBL] [Abstract][Full Text] [Related]
5. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.
Fliegauf M; Olbrich H; Horvath J; Wildhaber JH; Zariwala MA; Kennedy M; Knowles MR; Omran H
Am J Respir Crit Care Med; 2005 Jun; 171(12):1343-9. PubMed ID: 15750039
[TBL] [Abstract][Full Text] [Related]
6. Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
Blanchon S; Legendre M; Bottier M; Tamalet A; Montantin G; Collot N; Faucon C; Dastot F; Copin B; Clement A; Filoche M; Coste A; Amselem S; Escudier E; Papon JF; Louis B
J Med Genet; 2020 Apr; 57(4):237-244. PubMed ID: 31772028
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 26909801
[TBL] [Abstract][Full Text] [Related]
8. 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;
Thorax; 2012 May; 67(5):433-41. PubMed ID: 22184204
[TBL] [Abstract][Full Text] [Related]
9. 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; 93(2):346-56. PubMed ID: 23891471
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 18950741
[TBL] [Abstract][Full Text] [Related]
11.
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; 2020 Mar; 62(3):382-396. PubMed ID: 31545650
[TBL] [Abstract][Full Text] [Related]
12. Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.
Shapiro AJ; Leigh MW
Ultrastruct Pathol; 2017; 41(6):373-385. PubMed ID: 28915070
[TBL] [Abstract][Full Text] [Related]
13. Transport of the outer dynein arm complex to cilia requires a cytoplasmic protein Lrrc6.
Inaba Y; Shinohara K; Botilde Y; Nabeshima R; Takaoka K; Ajima R; Lamri L; Takeda H; Saga Y; Nakamura T; Hamada H
Genes Cells; 2016 Jul; 21(7):728-39. PubMed ID: 27353389
[TBL] [Abstract][Full Text] [Related]
14. Genetic defects in ciliary structure and function.
Zariwala MA; Knowles MR; Omran H
Annu Rev Physiol; 2007; 69():423-50. PubMed ID: 17059358
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 28543983
[TBL] [Abstract][Full Text] [Related]
16. A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report.
Rocca MS; Piatti G; Michelucci A; Guazzo R; Bertini V; Vinanzi C; Caligo MA; Valetto A; Foresta C
BMC Med Genet; 2020 Nov; 21(1):220. PubMed ID: 33167880
[TBL] [Abstract][Full Text] [Related]
17. Ciliary defects and genetics of primary ciliary dyskinesia.
Escudier E; Duquesnoy P; Papon JF; Amselem S
Paediatr Respir Rev; 2009 Jun; 10(2):51-4. PubMed ID: 19410201
[TBL] [Abstract][Full Text] [Related]
18. Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid.
Hirst RA; Jackson CL; Coles JL; Williams G; Rutman A; Goggin PM; Adam EC; Page A; Evans HJ; Lackie PM; O'Callaghan C; Lucas JS
PLoS One; 2014; 9(2):e89675. PubMed ID: 24586956
[TBL] [Abstract][Full Text] [Related]
19. A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations.
Orimo M; Kondo M; Takeyama K; Abe K; Miyoshi A; Honda N; Ichikawa A; Takeuchi K; Tagaya E
Intern Med; 2019 Aug; 58(16):2383-2386. PubMed ID: 31118369
[TBL] [Abstract][Full Text] [Related]
20. 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; 99(2):460-9. PubMed ID: 27486780
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]