primary ciliary dyskinesia

Literature (20)

Literature for DOID 9562: primary ciliary dyskinesia

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

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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.
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.
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.
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.
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,Lee C,Lee C,Griese M,Memari Y,Durbin R,Kolb-Kokocinski A,Sauer S,Wallingford JB,Hamada H,Omran H, Am J Hum Genet. August 4, 2016; 99(2):1537-6605.
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.
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.
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.
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.
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.
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.
Mechanisms of cilia regeneration in Xenopus multiciliated epithelium in vivo., Rao VG,Subramanianbalachandar VA,Magaj MM,Redemann S,Kulkarni SS, EMBO Rep. April 14, 2025; 26(8):1469-3178.
Genomic Complexity of ccdc40 in Xenopus : Implications for CRISPR Targeting and Disease Modeling., Nakayama T,Kulkarni S, MicroPubl Biol. May 9, 2025; 2025:2578-9430.
Centriolar defects underlie a primary ciliary dyskinesia phenotype in an adenylate kinase 7 deficient ciliated epithelium., Sheridan J,Grata A,Dorr J,Suva EE,Bresteau E,Mitchell LR,Hassan O,Mitchell B, Dev Biol. August 15, 2025; 524:1095-564X.

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.

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.

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.

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.

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,Lee C,Lee C,Griese M,Memari Y,Durbin R,Kolb-Kokocinski A,Sauer S,Wallingford JB,Hamada H,Omran H, Am J Hum Genet. August 4, 2016; 99(2):1537-6605.

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.

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.

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.

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.

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.

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.

Mechanisms of cilia regeneration in Xenopus multiciliated epithelium in vivo., Rao VG,Subramanianbalachandar VA,Magaj MM,Redemann S,Kulkarni SS, EMBO Rep. April 14, 2025; 26(8):1469-3178.

Genomic Complexity of ccdc40 in Xenopus : Implications for CRISPR Targeting and Disease Modeling., Nakayama T,Kulkarni S, MicroPubl Biol. May 9, 2025; 2025:2578-9430.

Centriolar defects underlie a primary ciliary dyskinesia phenotype in an adenylate kinase 7 deficient ciliated epithelium., Sheridan J,Grata A,Dorr J,Suva EE,Bresteau E,Mitchell LR,Hassan O,Mitchell B, Dev Biol. August 15, 2025; 524:1095-564X.