ciliopathy

Literature (25)

Literature for DOID 0060340: ciliopathy

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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[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.
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.
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.
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.
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.
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.
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.
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.
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.
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 25, 2023; 505:1095-564X.

[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.

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.

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.

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.

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.

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.

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.

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.

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.

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 25, 2023; 505:1095-564X.