BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

328 related articles for article (PubMed ID: 23261303)

  • 1. 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]  

  • 2. 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]  

  • 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; 103(6):995-1008. PubMed ID: 30471718
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility.
    Aprea I; Raidt J; Höben IM; Loges NT; Nöthe-Menchen T; Pennekamp P; Olbrich H; Kaiser T; Biebach L; Tüttelmann F; Horvath J; Schubert M; Krallmann C; Kliesch S; Omran H
    PLoS Genet; 2021 Feb; 17(2):e1009306. PubMed ID: 33635866
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.
    Knowles MR; Leigh MW; Ostrowski LE; Huang L; Carson JL; Hazucha MJ; Yin W; Berg JS; Davis SD; Dell SD; Ferkol TW; Rosenfeld M; Sagel SD; Milla CE; Olivier KN; Turner EH; Lewis AP; Bamshad MJ; Nickerson DA; Shendure J; Zariwala MA;
    Am J Hum Genet; 2013 Jan; 92(1):99-106. PubMed ID: 23261302
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
    Hjeij R; Aprea I; Poeta M; Nöthe-Menchen T; Bracht D; Raidt J; Honecker BI; Dougherty GW; Olbrich H; Schwartz O; Keller U; Nüsse H; Diderich KEM; Vogelberg C; Santamaria F; Omran H
    Genet Med; 2023 May; 25(5):100798. PubMed ID: 36727596
    [TBL] [Abstract][Full Text] [Related]  

  • 9. C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.
    Fassad MR; Shoemark A; le Borgne P; Koll F; Patel M; Dixon M; Hayward J; Richardson C; Frost E; Jenkins L; Cullup T; Chung EMK; Lemullois M; Aubusson-Fleury A; Hogg C; Mitchell DR; Tassin AM; Mitchison HM
    Am J Hum Genet; 2018 May; 102(5):956-972. PubMed ID: 29727692
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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; 102(5):973-984. PubMed ID: 29727693
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 93(2):357-67. PubMed ID: 23849778
    [TBL] [Abstract][Full Text] [Related]  

  • 15. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
    Thomas L; Bouhouche K; Whitfield M; Thouvenin G; Coste A; Louis B; Szymanski C; Bequignon E; Papon JF; Castelli M; Lemullois M; Dhalluin X; Drouin-Garraud V; Montantin G; Tissier S; Duquesnoy P; Copin B; Dastot F; Couvet S; Barbotin AL; Faucon C; Honore I; Maitre B; Beydon N; Tamalet A; Rives N; Koll F; Escudier E; Tassin AM; Touré A; Mitchell V; Amselem S; Legendre M
    Am J Hum Genet; 2020 Feb; 106(2):153-169. PubMed ID: 31978331
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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; 44(4):381-9, S1-2. PubMed ID: 22387996
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.