Primary ciliary dyskinesia

[1]. Aarti Tarkar, et al. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet. 2013 Sep;45(9):995-1003. [Content Brief]

[2]. Amjad Horani, et al. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2012 Oct 5;91(4):685-93. [Content Brief]

[3]. Bénédicte Duriez, et al. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3336-41. [Content Brief]

[4]. Carsten Bergmann, et al. Educational paper: ciliopathies. Eur J Pediatr. 2012 Sep;171(9):1285-300. [Content Brief]

[5]. Christina Austin-Tse, et al. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet. 2013 Oct 3;93(4):672-86. [Content Brief]

[6]. Christine Edelbusch, et al. Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. Hum Mutat. 2017 Aug;38(8):964-969. [Content Brief]

[7]. Daniel J Moore, et al. Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. Am J Hum Genet. 2013 Aug 8;93(2):346-56. [Content Brief]

[8]. Dinu Antony, et al. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat. 2013 Mar;34(3):462-72. [Content Brief]

[9]. Elma El Khouri, et al. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. Am J Hum Genet. 2016 Aug 4;99(2):489-500. [Content Brief]

[10]. Esther Kott, et al. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet. 2012 Nov 2;91(5):958-64. [Content Brief]

[11]. Esther Kott, et al. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. Am J Hum Genet. 2013 Sep 5;93(3):561-70. [Content Brief]

[12]. Eun Hye Cho, et al. A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects. Clin Genet. 2020 Jul;98(1):64-68. [Content Brief]

[13]. Faiqa Imtiaz, et al. Variation in DNAH1 may contribute to primary ciliary dyskinesia. BMC Med Genet. 2015 Mar 17;16:14. [Content Brief]

[14]. G Pennarun, et al. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet. 1999 Dec;65(6):1508-19. [Content Brief]

[15]. Hannah M Mitchison, et al. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet. 2012 Mar 4;44(4):381-9, S1-2. [Content Brief]

[16]. Heike Olbrich, et al. Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am J Hum Genet. 2015 Oct 1;97(4):546-54. [Content Brief]

[17]. Heike Olbrich, et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet. 2002 Feb;30(2):143-4. [Content Brief]

[18]. Heike Olbrich, et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet. 2012 Oct 5;91(4):672-84. [Content Brief]

[19]. Heymut Omran, et al. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature. 2008 Dec 4;456(7222):611-6. [Content Brief]

[20]. Jennifer R Panizzi, et al. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet. 2012 May 13;44(6):714-9. [Content Brief]

[21]. Julia Wallmeier, et al. De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. [Content Brief]

[22]. Julia Wallmeier, et al. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Genet. 2014 Jun;46(6):646-51. [Content Brief]

[23]. Julia Wallmeier, et al. Mutations in TP73 cause impaired mucociliary clearance and lissencephaly. Am J Hum Genet. 2021 Jul 1;108(7):1318-1329. [Content Brief]

[24]. Julia Wallmeier, et al. TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. Am J Hum Genet. 2016 Aug 4;99(2):460-9. [Content Brief]

[25]. Julie Jerber, et al. The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals. Hum Mol Genet. 2014 Feb 1;23(3):563-77. [Content Brief]

[26]. Lucia Bartoloni, et al. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10282-6. [Content Brief]

[27]. Lucie Thomas, et al. TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella. Am J Hum Genet. 2020 Feb 6;106(2):153-169. [Content Brief]

[28]. Ludovic Jeanson, et al. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. Am J Hum Genet. 2015 Jul 2;97(1):153-62. [Content Brief]

[29]. Mahmoud R Fassad, et al. C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. Am J Hum Genet. 2018 May 3;102(5):956-972. [Content Brief]

[30]. Mahmoud R Fassad, et al. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. Am J Hum Genet. 2018 Dec 6;103(6):984-994. [Content Brief]

[31]. Maimoona A Zariwala, et al. Genetic defects in ciliary structure and function. Annu Rev Physiol. 2007;69:423-50. [Content Brief]

[32]. Maimoona A Zariwala, et al. The emerging genetics of primary ciliary dyskinesia. Proc Am Thorac Soc. 2011 Sep;8(5):430-3. [Content Brief]

[33]. Margaret W Leigh, et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473-87. [Content Brief]

[34]. Masha Mazor, et al. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet. 2011 May 13;88(5):599-607. [Content Brief]

[35]. Maureen Wirschell, et al. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet. 2013 Mar;45(3):262-8. [Content Brief]

[36]. Michael R Knowles, et al. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2013 Jan 10;92(1):99-106. [Content Brief]

[37]. Michael R Knowles, et al. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet. 2013 Oct 3;93(4):711-20. [Content Brief]

[38]. Mieke Boon, et al. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Commun. 2014 Jul 22;5:4418. [Content Brief]

[39]. Niki Tomas Loges, et al. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet. 2009 Dec;85(6):883-9. [Content Brief]

[40]. Niki Tomas Loges, et al. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet. 2008 Nov;83(5):547-58. [Content Brief]

[41]. Raghu R Chivukula, et al. A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Nat Med. 2020 Feb;26(2):244-251. [Content Brief]

[42]. Rim Hjeij, et al. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013 Aug 8;93(2):357-67. [Content Brief]

[43]. Serge Bonnefoy, et al. Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. Am J Hum Genet. 2018 Nov 1;103(5):727-739. [Content Brief]

[44]. Steven K Brennan, et al. Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia. Int J Mol Sci. 2021 Jul 31;22(15):8272. [Content Brief]

[45]. Tamara Paff, et al. Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Am J Hum Genet. 2017 Jan 5;100(1):160-168. [Content Brief]

[46]. Victoria H Castleman, et al. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet. 2009 Feb;84(2):197-209. [Content Brief]

[47]. Ximena M Bustamante-Marin, et al. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. Am J Hum Genet. 2019 Feb 7;104(2):229-245. [Content Brief]