274 related articles for article (PubMed ID: 31383820)
1. Functional loss of
Chiani F; Orsini T; Gambadoro A; Pasquini M; Putti S; Cirilli M; Ermakova O; Tocchini-Valentini GP
Dis Model Mech; 2019 Aug; 12(8):. PubMed ID: 31383820
[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. The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals.
Jerber J; Baas D; Soulavie F; Chhin B; Cortier E; Vesque C; Thomas J; Durand B
Hum Mol Genet; 2014 Feb; 23(3):563-77. PubMed ID: 24067530
[TBL] [Abstract][Full Text] [Related]
4. A novel hypomorphic allele of
Abdelhamed Z; Lukacs M; Cindric S; Ali S; Omran H; Stottmann RW
Dis Model Mech; 2020 Oct; 13(10):. PubMed ID: 32988999
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Loss of Rsph9 causes neonatal hydrocephalus with abnormal development of motile cilia in mice.
Zou W; Lv Y; Liu ZI; Xia P; Li H; Jiao J
Sci Rep; 2020 Jul; 10(1):12435. PubMed ID: 32709945
[TBL] [Abstract][Full Text] [Related]
9. Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Leslie JS; Hjeij R; Vivante A; Bearce EA; Dyer L; Wang J; Rawlins L; Kennedy J; Ubeyratna N; Fasham J; Irons ZH; Craig SB; Koenig J; George S; Pode-Shakked B; Bolkier Y; Barel O; Mane S; Frederiksen KK; Wenger O; Scott E; Cross HE; Lorentzen E; Norris DP; Anikster Y; Omran H; Grimes DT; Crosby AH; Baple EL
Genet Med; 2022 Nov; 24(11):2249-2261. PubMed ID: 36074124
[TBL] [Abstract][Full Text] [Related]
10. Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice.
Wang R; Yang D; Tu C; Lei C; Ding S; Guo T; Wang L; Liu Y; Lu C; Yang B; Ouyang S; Gong K; Tan Z; Deng Y; Tan Y; Qing J; Luo H
Front Med; 2023 Oct; 17(5):957-971. PubMed ID: 37314648
[TBL] [Abstract][Full Text] [Related]
11. A mutation in
Abdelhamed Z; Vuong SM; Hill L; Shula C; Timms A; Beier D; Campbell K; Mangano FT; Stottmann RW; Goto J
Development; 2018 Jan; 145(1):. PubMed ID: 29317443
[TBL] [Abstract][Full Text] [Related]
12. Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.
Ibañez-Tallon I; Gorokhova S; Heintz N
Hum Mol Genet; 2002 Mar; 11(6):715-21. PubMed ID: 11912187
[TBL] [Abstract][Full Text] [Related]
13. Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.
Wilson GR; Wang HX; Egan GF; Robinson PJ; Delatycki MB; O'Bryan MK; Lockhart PJ
Hum Mol Genet; 2010 Apr; 19(8):1593-602. PubMed ID: 20106870
[TBL] [Abstract][Full Text] [Related]
14. Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.
Shapiro AJ; Kaspy K; Daniels MLA; Stonebraker JR; Nguyen VH; Joyal L; Knowles MR; Zariwala MA
Mol Genet Genomic Med; 2021 Jul; 9(7):e1726. PubMed ID: 34132502
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.
Ibañez-Tallon I; Pagenstecher A; Fliegauf M; Olbrich H; Kispert A; Ketelsen UP; North A; Heintz N; Omran H
Hum Mol Genet; 2004 Sep; 13(18):2133-41. PubMed ID: 15269178
[TBL] [Abstract][Full Text] [Related]
17. Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia.
Alsaadi MM; Erzurumluoglu AM; Rodriguez S; Guthrie PA; Gaunt TR; Omar HZ; Mubarak M; Alharbi KK; Al-Rikabi AC; Day IN
Hum Mutat; 2014 Dec; 35(12):1446-8. PubMed ID: 25224326
[TBL] [Abstract][Full Text] [Related]
18. Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia.
Sironen A; Kotaja N; Mulhern H; Wyatt TA; Sisson JH; Pavlik JA; Miiluniemi M; Fleming MD; Lee L
Biol Reprod; 2011 Oct; 85(4):690-701. PubMed ID: 21715716
[TBL] [Abstract][Full Text] [Related]
19. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
El Khouri E; Thomas L; Jeanson L; Bequignon E; Vallette B; Duquesnoy P; Montantin G; Copin B; Dastot-Le Moal F; Blanchon S; Papon JF; Lorès P; Yuan L; Collot N; Tissier S; Faucon C; Gacon G; Patrat C; Wolf JP; Dulioust E; Crestani B; Escudier E; Coste A; Legendre M; Touré A; Amselem S
Am J Hum Genet; 2016 Aug; 99(2):489-500. PubMed ID: 27486783
[TBL] [Abstract][Full Text] [Related]
20. Sperm defects in primary ciliary dyskinesia and related causes of male infertility.
Sironen A; Shoemark A; Patel M; Loebinger MR; Mitchison HM
Cell Mol Life Sci; 2020 Jun; 77(11):2029-2048. PubMed ID: 31781811
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
