Crossref journal-article
Elsevier BV
The American Journal of Human Genetics (78)
Bibliography

Pennarun, G., Escudier, E., Chapelin, C., Bridoux, A.-M., Cacheux, V., Roger, G., Clément, A., Goossens, M., Amselem, S., & Duriez, B. (1999). Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia. The American Journal of Human Genetics, 65(6), 1508–1519.

Authors 10
  1. Gaëlle Pennarun (first)
  2. Estelle Escudier (additional)
  3. Catherine Chapelin (additional)
  4. Anne-Marie Bridoux (additional)
  5. Valère Cacheux (additional)
  6. Gilles Roger (additional)
  7. Annick Clément (additional)
  8. Michel Goossens (additional)
  9. Serge Amselem (additional)
  10. Bénédicte Duriez (additional)
References 53 Referenced 305
  1. 10.1126/science.1084576 / Science / A human syndrome caused by immotile cilia by Afzelius (1976)
  2. 10.3109/10409238509086788 / CRC Crit Rev Biochem / The immotile-cilia syndrome: a microtubule-associated defect by Afzelius (1985)
  3. 10.1091/mbc.7.1.71 / Mol Biol Cell / Identification of seven rat axonemal dynein heavy chain genes: expression during ciliated cell differentiation by Andrews (1996)
  4. 10.1242/jcs.107.4.839 / J Cell Sci / The dynein genes of Paramecium tetraurelia. Sequences adjacent to the catalytic P-loop identify cytoplasmic and axonemal heavy chain isoforms by Asai (1994)
  5. 10.1016/S0959-437X(05)80136-4 / Curr Opin Genet Dev / Flagella in prokaryotes and lower eukaryotes by Blair (1992)
  6. {'key': '10.1086/302683_bib6', 'first-page': '302', 'article-title': 'Genetic heterogeneity of dynein-deficiency in cilia from patients with respiratory disease', 'volume': '126', 'author': 'Chao', 'year': '1982', 'journal-title': 'Am Rev Respir Dis'} / Am Rev Respir Dis / Genetic heterogeneity of dynein-deficiency in cilia from patients with respiratory disease by Chao (1982)
  7. {'key': '10.1086/302683_bib8', 'first-page': 'A504', 'article-title': 'Genetic analysis of primary ciliary dyskinesia in 6 multiplex families', 'volume': '155', 'author': 'Chapelin', 'year': '1997', 'journal-title': 'Am J Respir Crit Care Med'} / Am J Respir Crit Care Med / Genetic analysis of primary ciliary dyskinesia in 6 multiplex families by Chapelin (1997)
  8. 10.1016/S0014-5793(97)00800-4 / FEBS Lett / Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment by Chapelin (1997)
  9. 10.1006/geno.1998.5665 / Genomics / Cloning and characterization of two cytoplasmic dynein intermediate chain genes in mouse and human by Crackower (1999)
  10. 10.1164/ajrccm/142.3.674 / Am Rev Respir Dis / Dissimilar expression of axonemal anomalies in respiratory cilia and sperm flagella in infertile men by Escudier (1990)
  11. 10.1091/mbc.5.1.57 / Mol Biol Cell / Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins by Gibbons (1994)
  12. 10.1038/352640a0 / Nature / Multiple nucleotide-binding sites in the sequence of dynein β heavy chain by Gibbons (1991)
  13. 10.1146/annurev.cb.10.110194.002011 / Annu Rev Cell Biol / Dyneins: molecular structure and cellular function by Holzbaur (1994)
  14. {'key': '10.1086/302683_bib15', 'first-page': '3047', 'article-title': 'Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene', 'volume': '82', 'author': 'Kastury', 'year': '1997', 'journal-title': 'J Clin Endocrinol Metab'} / J Clin Endocrinol Metab / Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene by Kastury (1997)
  15. 10.1083/jcb.131.2.399 / J Cell Biol / The 78,000-M(r) intermediate chain of Chlamydomonas outer arm dynein is a microtubule-binding protein by King (1995)
  16. 10.1016/S0021-9258(18)92989-3 / J Biol Chem / The Mr 78,000 intermediate chain of Chlamydomonas outer arm dynein interacts with α-tubulin in situ by King (1991)
  17. 10.1091/mbc.6.6.713 / Mol Biol Cell / ida4-1, ida4-2, and ida4-3 are intron splicing mutations affecting the locus encoding p28, a light chain of Chlamydomonas axonemal inner dynein arms by LeDizet (1995)
  18. 10.1091/mbc.6.6.697 / Mol Biol Cell / The light chain p28 associates with a subset of inner dynein arm heavy chains in Chlamydomonas axonemes by LeDizet (1995)
  19. 10.1159/000133277 / Cytogenet Cell Genet / A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes by Lemieux (1992)
  20. 10.1007/s003359900202 / Mamm Genome / Characterization of a novel human dynein-related gene that is specifically expressed in testis by Milisav (1996)
  21. 10.1083/jcb.113.4.835 / J Cell Biol / Identification of oda6 as a Chlamydomonas dynein mutant by rescue with the wild-type gene by Mitchell (1991)
  22. 10.1091/mbc.8.4.607 / Mol Biol Cell / The Chlamydomonas Dhc1 gene encodes a dynein heavy chain subunit required for assembly of the I1 inner arm complex by Myster (1997)
  23. 10.1136/jmg.31.6.493 / J Med Genet / Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome) by Narayan (1994)
  24. 10.1038/371297a0 / Nature / The ancient regulatory-protein family of WD-repeat proteins by Neer (1994)
  25. 10.1016/S0378-1119(97)00417-4 / Gene / Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene by Neesen (1997)
  26. 10.1128/MCB.18.11.6816 / Mol Cell Biol / Cytoplasmic dynein intermediate-chain isoforms with different targeting properties created by tissue-specific alternative splicing by Nurminsky (1998)
  27. 10.1038/352643a0 / Nature / Four ATP-binding sites in the midregion of the β heavy chain of dynein by Ogawa (1991)
  28. 10.1091/mbc.6.6.685 / Mol Biol Cell / Interspecies conservation of outer arm dynein intermediate chain sequences defines two intermediate chain subclasses by Ogawa (1995)
  29. 10.1091/mbc.7.12.1895 / Mol Biol Cell / Is outer arm dynein intermediate chain 1 multifunctional? by Ogawa (1996)
  30. 10.1083/jcb.118.5.1133 / J Cell Biol / Homology of the 74-kD cytoplasmic dynein subunit with a flagellar dynein polypeptide suggests an intracellular targeting function by Paschal (1992)
  31. 10.1091/mbc.9.12.3351 / Mol Biol Cell / The Chlamydomonas IDA7 locus encodes a 140-kDa dynein intermediate chain required to assemble the I1 inner arm complex by Perrone (1998)
  32. 10.1073/pnas.83.9.2934 / Proc Natl Acad Sci USA / Cytogenetic analysis using quantitative high-sensitivity, fluorescence hybridization by Pinkel (1986)
  33. 10.1016/S0955-0674(96)80042-1 / Curr Opin Cell Biol / Axonemal dyneins: assembly, organization, and regulation by Porter (1996)
  34. 10.1083/jcb.126.6.1495 / J Cell Biol / Mutations in the SUP-PF-1 locus of Chlamydomonas reinhardtii identify a regulatory domain in the β-dynein heavy chain by Porter (1994)
  35. 10.1093/genetics/144.2.569 / Genetics / The dynein gene family in Chlamydomonas reinhardtii by Porter (1996)
  36. 10.1091/mbc.5.1.45 / Mol Biol Cell / A family of dynein genes in Drosophila melanogaster by Rasmusson (1994)
  37. 10.1378/chest.78.4.580 / Chest / The dyskinetic cilia syndrome: ciliary motility in immotile cilia syndrome by Rossman (1980)
  38. 10.1083/jcb.135.6.1853 / J Cell Biol / The sup-pf-2 mutations of Chlamydomonas alter the activity of the outer dynein arms by modification of the γ-dynein heavy chain by Rupp (1996)
  39. {'key': '10.1086/302683_bib40', 'first-page': '406', 'article-title': 'The neighbor-joining method: a new method for reconstructing phylogenetic trees', 'volume': '4', 'author': 'Saitou', 'year': '1987', 'journal-title': 'Mol Biol Evol'} / Mol Biol Evol / The neighbor-joining method: a new method for reconstructing phylogenetic trees by Saitou (1987)
  40. 10.1083/jcb.113.3.615 / J Cell Biol / A Chlamydomonas outer arm dynein mutant missing the α heavy chain by Sakakibara (1991)
  41. 10.1083/jcb.122.3.653 / J Cell Biol / A Chlamydomonas outer arm dynein mutant with a truncated β heavy chain by Sakakibara (1993)
  42. 10.1038/31520 / Nature / Dynein arms are oscillating force generators by Shingyoji (1998)
  43. 10.1016/S0968-0004(99)01384-5 / Trends Biochem Sci / The WD repeat: a common architecture for diverse functions by Smith (1999)
  44. 10.1002/ajmg.1320250117 / Am J Med Genet / Genetic aspects of immotile cilia syndrome by Sturgess (1986)
  45. 10.1242/jcs.108.5.1883 / J Cell Sci / Identification and molecular evolution of new dynein-like protein sequences in rat brain by Tanaka (1995)
  46. 10.1093/nar/22.22.4673 / Nucleic Acids Res / Clustal W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice by Thompson (1994)
  47. 10.1073/pnas.90.19.8769 / Proc Natl Acad Sci USA / Molecular analysis of the microtubule motor dynein by Vallee (1993)
  48. 10.1006/geno.1996.0422 / Genomics / Multiple mouse chromosomal loci for dynein-based motility by Vaughan (1996)
  49. 10.1083/jcb.129.1.169 / J Cell Biol / The 78,000 M(r) intermediate chain of Chlamydomonas outer arm dynein is a WD-repeat protein required for arm assembly by Wilkerson (1995)
  50. 10.1242/jcs.107.3.497 / J Cell Sci / Molecular analysis of the γ heavy chain of Chlamydomonas flagellar outer-arm dynein by Wilkerson (1994)
  51. 10.1016/0955-0674(92)90061-G / Curr Opin Cell Biol / Axonemal dyneins by Witman (1992)
  52. 10.1086/302203 / Am J Hum Genet / Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia by Witt (1999)
  53. 10.1091/mbc.9.12.3335 / Mol Biol Cell / The Mr 140,000 intermediate chain of Chlamydomonas flagellar inner arm dynein is a WD-repeat protein implicated in dynein arm anchoring by Yang (1998)
Dates
Type When
Created 23 years, 1 month ago (July 26, 2002, 2:47 p.m.)
Deposited 4 years, 3 months ago (May 17, 2021, 2:41 a.m.)
Indexed 4 days, 10 hours ago (Sept. 3, 2025, 5:52 a.m.)
Issued 25 years, 9 months ago (Dec. 1, 1999)
Published 25 years, 9 months ago (Dec. 1, 1999)
Published Print 25 years, 9 months ago (Dec. 1, 1999)
Funders 0

None

@article{Pennarun_1999, title={Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia}, volume={65}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/302683}, DOI={10.1086/302683}, number={6}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Pennarun, Gaëlle and Escudier, Estelle and Chapelin, Catherine and Bridoux, Anne-Marie and Cacheux, Valère and Roger, Gilles and Clément, Annick and Goossens, Michel and Amselem, Serge and Duriez, Bénédicte}, year={1999}, month=dec, pages={1508–1519} }