570 related articles for article (PubMed ID: 31978331)
21. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia.
Bustamante-Marin XM; Horani A; Stoyanova M; Charng WL; Bottier M; Sears PR; Yin WN; Daniels LA; Bowen H; Conrad DF; Knowles MR; Ostrowski LE; Zariwala MA; Dutcher SK
PLoS Genet; 2020 Aug; 16(8):e1008691. PubMed ID: 32764743
[TBL] [Abstract][Full Text] [Related]
22. 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; ; Sheridan E; Nielsen KG; Roepman R; Bartscherer K; Burdine RD; Lo CW; Omran H; Mitchison HM
Am J Hum Genet; 2014 Sep; 95(3):257-74. PubMed ID: 25192045
[TBL] [Abstract][Full Text] [Related]
23. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.
Onoufriadis A; Shoemark A; Munye MM; James CT; Schmidts M; Patel M; Rosser EM; Bacchelli C; Beales PL; Scambler PJ; Hart SL; Danke-Roelse JE; Sloper JJ; Hull S; Hogg C; Emes RD; Pals G; Moore AT; Chung EM; ; Mitchison HM
J Med Genet; 2014 Jan; 51(1):61-7. PubMed ID: 24203976
[TBL] [Abstract][Full Text] [Related]
24. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.
Diggle CP; Moore DJ; Mali G; zur Lage P; Ait-Lounis A; Schmidts M; Shoemark A; Garcia Munoz A; Halachev MR; Gautier P; Yeyati PL; Bonthron DT; Carr IM; Hayward B; Markham AF; Hope JE; von Kriegsheim A; Mitchison HM; Jackson IJ; Durand B; Reith W; Sheridan E; Jarman AP; Mill P
PLoS Genet; 2014 Sep; 10(9):e1004577. PubMed ID: 25232951
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.
Ben Khelifa M; Coutton C; Zouari R; Karaouzène T; Rendu J; Bidart M; Yassine S; Pierre V; Delaroche J; Hennebicq S; Grunwald D; Escalier D; Pernet-Gallay K; Jouk PS; Thierry-Mieg N; Touré A; Arnoult C; Ray PF
Am J Hum Genet; 2014 Jan; 94(1):95-104. PubMed ID: 24360805
[TBL] [Abstract][Full Text] [Related]
27. Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.
Luongo FP; Luddi A; Ponchia R; Ferrante R; Di Rado S; Paccagnini E; Gentile M; Lupetti P; Guazzo R; Orrico A; Stuppia L; Piomboni P
Front Genet; 2023; 14():1062326. PubMed ID: 36777727
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. 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. PubMed ID: 21131972
[TBL] [Abstract][Full Text] [Related]
31. Wampa is a dynein subunit required for axonemal assembly and male fertility in Drosophila.
Bauerly E; Yi K; Gibson MC
Dev Biol; 2020 Jul; 463(2):158-168. PubMed ID: 32387369
[TBL] [Abstract][Full Text] [Related]
32. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.
Mazor M; Alkrinawi S; Chalifa-Caspi V; Manor E; Sheffield VC; Aviram M; Parvari R
Am J Hum Genet; 2011 May; 88(5):599-607. PubMed ID: 21496787
[TBL] [Abstract][Full Text] [Related]
33. Expression of a Truncated Form of
Ostrowski LE; Yin W; Smith AJ; Sears PR; Bustamante-Marin XM; Dang H; Hildebrandt F; Daniels LA; Capps NA; Sullivan KM; Leigh MW; Zariwala MA; Knowles MR
Int J Mol Sci; 2022 Feb; 23(3):. PubMed ID: 35163670
[TBL] [Abstract][Full Text] [Related]
34. 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; 456(7222):611-6. PubMed ID: 19052621
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype.
Schultz R; Elenius V; Lukkarinen H; Saarela T
BMC Med Genet; 2020 Nov; 21(1):237. PubMed ID: 33243178
[TBL] [Abstract][Full Text] [Related]
37. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
Onoufriadis A; Paff T; Antony D; Shoemark A; Micha D; Kuyt B; Schmidts M; Petridi S; Dankert-Roelse JE; Haarman EG; Daniels JM; Emes RD; Wilson R; Hogg C; Scambler PJ; Chung EM; ; Pals G; Mitchison HM
Am J Hum Genet; 2013 Jan; 92(1):88-98. PubMed ID: 23261303
[TBL] [Abstract][Full Text] [Related]
38. Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice.
Ma A; Zhou J; Ali H; Abbas T; Ali I; Muhammad Z; Dil S; Chen J; Huang X; Ma H; Zhao D; Zhang B; Zhang Y; Shah W; Shah B; Murtaza G; Iqbal F; Khan MA; Khan A; Li Q; Xu B; Wu L; Zhang H; Shi Q
JCI Insight; 2023 Feb; 8(3):. PubMed ID: 36752199
[TBL] [Abstract][Full Text] [Related]
39. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
Duquesnoy P; Escudier E; Vincensini L; Freshour J; Bridoux AM; Coste A; Deschildre A; de Blic J; Legendre M; Montantin G; Tenreiro H; Vojtek AM; Loussert C; Clément A; Escalier D; Bastin P; Mitchell DR; Amselem S
Am J Hum Genet; 2009 Dec; 85(6):890-6. PubMed ID: 19944405
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
