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Summary Literature (46)
Literature for DOID 0060340: ciliopathy


Xenbase Articles :
( Denotes literature images)
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis., Kim SK,Shindo A,Park TJ,Oh EC,Ghosh S,Gray RS,Lewis RA,Johnson CA,Attie-Bittach T,Katsanis N,Wallingford JB, Science. September 10, 2010; 329(5997):1095-9203.
Embryonic frog epidermis: a model for the study of cell-cell interactions in the development of mucociliary disease., Dubaissi E,Papalopulu N, Dis Model Mech. March 1, 2011; 4(2):1754-8411.
[The importance of model organisms to study cilia and flagella biology]., Vincensini L,Blisnick T,Bastin P, Biol Aujourdhui. January 1, 2011; 205(1):2105-0686.
Control of vertebrate intraflagellar transport by the planar cell polarity effector Fuz., Brooks ER,Wallingford JB, J Cell Biol. July 9, 2012; 198(1):1540-8140.
Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing., del Viso F,Bhattacharya D,Kong Y,Gilchrist MJ,Khokha MK, BMC Genomics. November 21, 2012; 13:1471-2164.
The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality., Boskovski MT,Yuan S,Pedersen NB,Goth CK,Makova S,Clausen H,Brueckner M,Khokha MK, Nature. December 19, 2013; 504(7480):0143-5221.
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6., Zariwala MA,Gee HY,Kurkowiak M,Al-Mutairi DA,Leigh MW,Hurd TW,Hjeij R,Dell SD,Chaki M,Dougherty GW,Adan M,Spear PC,Esteve-Rudd J,Loges NT,Rosenfeld M,Diaz KA,Olbrich H,Wolf WE,Sheridan E,Batten TF,Halbritter J,Porath JD,Kohl S,Lovric S,Hwang DY,Pittman JE,Burns KA,Ferkol TW,Sagel SD,Olivier KN,Morgan LC,Werner C,Raidt J,Pennekamp P,Sun Z,Zhou W,Airik R,Natarajan S,Allen SJ,Amirav I,Wieczorek D,Landwehr K,Nielsen K,Schwerk N,Sertic J,Köhler G,Washburn J,Levy S,Fan S,Koerner-Rettberg C,Amselem S,Williams DS,Mitchell BJ,Drummond IA,Otto EA,Omran H,Knowles MR,Hildebrandt F, Am J Hum Genet. August 8, 2013; 93(2):1537-6605.
RFX7 is required for the formation of cilia in the neural tube., Manojlovic Z,Earwood R,Kato A,Stefanovic B,Kato Y, Mech Dev. May 1, 2014; 132:1872-6356.
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia., Wallmeier J,Al-Mutairi DA,Chen CT,Loges NT,Pennekamp P,Menchen T,Ma L,Shamseldin HE,Olbrich H,Dougherty GW,Werner C,Alsabah BH,Köhler G,Jaspers M,Boon M,Griese M,Schmitt-Grohé S,Zimmermann T,Koerner-Rettberg C,Horak E,Kintner C,Alkuraya FS,Omran H, Nat Genet. June 1, 2014; 46(6):1546-1718.
Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye., Lee C,Lee C,Lee C,Wallingford JB,Gross JM, Invest Ophthalmol Vis Sci. June 26, 2014; 55(7):1552-5783.
The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin., Epting D,Slanchev K,Boehlke C,Hoff S,Loges NT,Yasunaga T,Indorf L,Nestel S,Lienkamp SS,Omran H,Kuehn EW,Ronneberger O,Walz G,Kramer-Zucker A, Development. January 1, 2015; 142(1):1477-9129.
The involvement of PCP proteins in radial cell intercalations during Xenopus embryonic development., Ossipova O,Chu CW,Fillatre J,Brott BK,Itoh K,Sokol SY, Dev Biol. December 15, 2015; 408(2):1095-564X.
CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus., Bhattacharya D,Marfo CA,Li D,Lane M,Khokha MK, Dev Biol. December 15, 2015; 408(2):1095-564X.
Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry., Silva E,Betleja E,John E,Spear P,Moresco JJ,Zhang S,Yates JR,Mitchell BJ,Mahjoub MR, Mol Biol Cell. January 1, 2016; 27(1):1939-4586.
Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy., Duncan AR,Khokha MK, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.
Toolbox in a tadpole: Xenopus for kidney research., Getwan M,Lienkamp SS, Cell Tissue Res. July 1, 2017; 369(1):1432-0878.
Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans., Gur M,Cohen EB,Genin O,Fainsod A,Perles Z,Cinnamon Y, Int J Dev Biol. January 1, 2017; 61(3-4-5):1696-3547.
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery., Toriyama M,Lee C,Lee C,Lee C,Taylor SP,Duran I,Cohn DH,Bruel AL,Tabler JM,Drew K,Kelly MR,Kim S,Park TJ,Braun DA,Pierquin G,Biver A,Wagner K,Malfroot A,Panigrahi I,Franco B,Al-Lami HA,Yeung Y,Choi YJ,Duffourd Y,Faivre L,Rivière JB,Chen J,Liu KJ,Liu KJ,Marcotte EM,Hildebrandt F,Thauvin-Robinet C,Krakow D,Jackson PK,Wallingford JB, Nat Genet. June 1, 2016; 48(6):1546-1718.
CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs., Naert T,Vleminckx K,Vleminckx K, Drug Discov Today Technol. August 1, 2018; 28:1740-6749.
The evolutionary conserved FOXJ1 target gene Fam183b is essential for motile cilia in Xenopus but dispensable for ciliary function in mice., Beckers A,Ott T,Schuster-Gossler K,Boldt K,Alten L,Ueffing M,Blum M,Gossler A, Sci Rep. October 2, 2018; 8(1):2045-2322.
Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development., Konjikusic MJ,Yeetong P,Boswell CW,Lee C,Lee C,Lee C,Roberson EC,Ittiwut R,Suphapeetiporn K,Ciruna B,Gurnett CA,Wallingford JB,Shotelersuk V,Gray RS, PLoS Genet. November 6, 2018; 14(11):1553-7404.
A liquid-like organelle at the root of motile ciliopathy., Huizar RL,Lee C,Lee C,Lee C,Boulgakov AA,Horani A,Tu F,Marcotte EM,Brody SL,Wallingford JB, Elife. December 18, 2018; 7:2050-084X.
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1., Ott T,Kaufmann L,Granzow M,Hinderhofer K,Bartram CR,Theiß S,Seitz A,Paramasivam N,Schulz A,Moog U,Blum M,Evers CM, Front Physiol. January 1, 2019; 10:1664-042X.
Divergent roles of the Wnt/PCP Formin Daam1 in renal ciliogenesis., Corkins ME,Krneta-Stankic V,Kloc M,McCrea PD,Gladden AB,Miller RK, PLoS One. January 1, 2019; 14(8):1932-6203.
Serotonin and MucXS release by small secretory cells depend on Xpod, a SSC specific marker gene., Kurrle Y,Kunesch K,Bogusch S,Schweickert A, Genesis. February 1, 2020; 58(2):1526-968X.
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance., Bustamante-Marin XM,Yin WN,Sears PR,Werner ME,Brotslaw EJ,Mitchell BJ,Jania CM,Zeman KL,Rogers TD,Herring LE,Refabért L,Thomas L,Amselem S,Escudier E,Legendre M,Grubb BR,Knowles MR,Zariwala MA,Ostrowski LE, Am J Hum Genet. February 7, 2019; 104(2):1537-6605.
Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia., Poprzeczko M,Bicka M,Farahat H,Bazan R,Osinka A,Fabczak H,Joachimiak E,Wloga D, Cells. December 11, 2019; 8(12):2073-4409.
The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development., Beckers A,Adis C,Schuster-Gossler K,Tveriakhina L,Ott T,Fuhl F,Hegermann J,Boldt K,Serth K,Rachev E,Alten L,Kremmer E,Ueffing M,Blum M,Gossler A, Development. June 15, 2020; 147(21):1477-9129.
CAMSAP3 facilitates basal body polarity and the formation of the central pair of microtubules in motile cilia., Robinson AM,Takahashi S,Brotslaw EJ,Ahmad A,Ferrer E,Procissi D,Richter CP,Cheatham MA,Mitchell BJ,Zheng J, Proc Natl Acad Sci U S A. June 16, 2020; 117(24):1091-6490.
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes., Marquez J,Mann N,Arana K,Deniz E,Ji W,Konstantino M,Mis EK,Deshpande C,Jeffries L,McGlynn J,Hugo H,Widmeier E,Konrad M,Tasic V,Morotti R,Baptista J,Ellard S,Lakhani SA,Hildebrandt F,Khokha MK, J Med Genet. July 1, 2021; 58(7):1468-6244.
Nucleoporin NUP205 plays a critical role in cilia and congenital disease., Marquez J,Bhattacharya D,Lusk CP,Khokha MK, Dev Biol. January 1, 2021; 469:1095-564X.
Functional partitioning of a liquid-like organelle during assembly of axonemal dyneins., Lee C,Lee C,Lee C,Cox RM,Papoulas O,Horani A,Drew K,Devitt CC,Brody SL,Marcotte EM,Wallingford JB, Elife. December 2, 2020; 9:2050-084X.
Editorial: Xenopus Models of Organogenesis and Disease., Griffin JN,Liu KJ,Liu KJ,Sempou E, Front Physiol. January 1, 2020; 11:1664-042X.
Aquatic models of human ciliary diseases., Corkins ME,Krneta-Stankic V,Kloc M,Miller RK, Genesis. February 1, 2021; 59(1-2):1526-968X.
Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes., Rao VG,Kulkarni SS, Genesis. February 1, 2021; 59(1-2):1526-968X.
RNA demethylation by FTO stabilizes the FOXJ1 mRNA for proper motile ciliogenesis., Kim H,Lee YS,Lee YS,Kim SM,Jang S,Choi H,Lee JW,Lee JW,Kim TD,Kim VN, Dev Cell. April 19, 2021; 56(8):1878-1551.
Signaling Control of Mucociliary Epithelia: Stem Cells, Cell Fates, and the Plasticity of Cell Identity in Development and Disease., Walentek P, Cells Tissues Organs. January 1, 2022; 211(6):1422-6405.
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease., Getwan M,Hoppmann A,Schlosser P,Grand K,Song W,Diehl R,Schroda S,Heeg F,Deutsch K,Hildebrandt F,Lausch E,Köttgen A,Lienkamp SS, Proc Natl Acad Sci U S A. September 28, 2021; 118(39):1091-6490.
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates., Szenker-Ravi E,Ott T,Khatoo M,Moreau de Bellaing A,Goh WX,Chong YL,Beckers A,Kannesan D,Louvel G,Anujan P,Ravi V,Bonnard C,Moutton S,Schoen P,Fradin M,Colin E,Megarbane A,Daou L,Chehab G,Di Filippo S,Rooryck C,Deleuze JF,Boland A,Arribard N,Eker R,Tohari S,Ng AY,Rio M,Lim CT,Eisenhaber B,Eisenhaber F,Venkatesh B,Amiel J,Crollius HR,Gordon CT,Gossler A,Roy S,Attie-Bitach T,Blum M,Bouvagnet P,Reversade B, Nat Genet. January 1, 2022; 54(1):1546-1718.
PCD Genes-From Patients to Model Organisms and Back to Humans., Niziolek M,Bicka M,Osinka A,Samsel Z,Sekretarska J,Poprzeczko M,Bazan R,Fabczak H,Joachimiak E,Wloga D, Int J Mol Sci. February 3, 2022; 23(3):1422-0067.
Cilia-localized GID/CTLH ubiquitin ligase complex regulates protein homeostasis of sonic hedgehog signaling components., Hantel F,Liu H,Fechtner L,Neuhaus H,Ding J,Arlt D,Walentek P,Villavicencio-Lorini P,Gerhardt C,Hollemann T,Pfirrmann T, J Cell Sci. May 1, 2022; 135(9):1477-9137.
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex., Mascibroda LG,Shboul M,Elrod ND,Colleaux L,Hamamy H,Huang KL,Peart N,Singh MK,Lee H,Lee H,Merriman B,Jodoin JN,Sitaram P,Lee LA,Fathalla R,Al-Rawashdeh B,Ababneh O,El-Khateeb M,Escande-Beillard N,Nelson SF,Wu Y,Tong L,Kenney LJ,Roy S,Russell WK,Amiel J,Reversade B,Wagner EJ, Nat Commun. October 13, 2022; 13(1):2041-1723.
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease., Mishra-Gorur K,Barak T,Kaulen LD,Henegariu O,Jin SC,Aguilera SM,Yalbir E,Goles G,Nishimura S,Miyagishima D,Djenoune L,Altinok S,Rai DK,Viviano S,Prendergast A,Zerillo C,Ozcan K,Baran B,Sencar L,Goc N,Yarman Y,Ercan-Sencicek AG,Bilguvar K,Lifton RP,Moliterno J,Louvi A,Yuan S,Deniz E,Brueckner M,Gunel M, Proc Natl Acad Sci U S A. April 18, 2023; 120(16):1091-6490.
The histone H4K20 methyltransferase SUV4-20H1/KMT5B is required for multiciliated cell differentiation in Xenopus., Angerilli A,Tait J,Berges J,Shcherbakova I,Pokrovsky D,Schauer T,Smialowski P,Hsam O,Mentele E,Nicetto D,Rupp RA, Life Sci Alliance. July 1, 2023; 6(7):2575-1077.
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa., Bocquet B,Borday C,Erkilic N,Mamaeva D,Donval A,Masson C,Parain K,Kaminska K,Quinodoz M,Perea-Romero I,Garcia-Garcia G,Jimenez-Medina C,Boukhaddaoui H,Coget A,Leboucq N,Calzetti G,Gandolfi S,Percesepe A,Barili V,Uliana V,Delsante M,Bozzetti F,Scholl HP,Corton M,Ayuso C,Millan JM,Rivolta C,Meunier I,Perron M,Kalatzis V, JCI Insight. November 8, 2023; 8(21):2379-3708.
Small molecule-mediated reprogramming of Xenopus blastula stem cells to a neural crest state., Huber PB,LaBonne C, Dev Biol. January 1, 2024; 505:1095-564X.