Literature DB >> 17384988

Ciliary ultrastructure in two sisters with Kartagener's syndrome.

Kayoko Tanaka1, Akihisa Sutani, Yuka Uchida, Yoshihiko Shimizu, Michio Shimizu, Masumi Akita.   

Abstract

Kartagener's syndrome (KS) is a clinical variant of primary ciliary dyskinesia involving situs inversus associated with chronic airway infections. We studied two sisters; the elder one had dextrocardia and scoliosis, and the younger one had situs inversus of the lung, liver, and stomach as well as dextrocardia. Both patients had chronic sinusitis and chronic bronchitis with bronchiectasis. In both cases, the ciliary defect associated with this syndrome is the absence of inner dynein arms.

Entities:  

Mesh:

Year:  2007        PMID: 17384988     DOI: 10.1007/s00795-007-0354-y

Source DB:  PubMed          Journal:  Med Mol Morphol        ISSN: 1860-1499            Impact factor:   2.309


  18 in total

1.  Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.

Authors:  M Zariwala; P G Noone; A Sannuti; S Minnix; Z Zhou; M W Leigh; M Hazucha; J L Carson; M R Knowles
Journal:  Am J Respir Cell Mol Biol       Date:  2001-11       Impact factor: 6.914

Review 2.  The immotile-cilia syndrome: a microtubule-associated defect.

Authors:  B A Afzelius
Journal:  CRC Crit Rev Biochem       Date:  1985

3.  Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

Authors:  G Pennarun; E Escudier; C Chapelin; A M Bridoux; V Cacheux; G Roger; A Clément; M Goossens; S Amselem; B Duriez
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

4.  RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.

Authors:  A Moore; E Escudier; G Roger; A Tamalet; B Pelosse; S Marlin; A Clément; M Geremek; B Delaisi; A-M Bridoux; A Coste; M Witt; B Duriez; S Amselem
Journal:  J Med Genet       Date:  2005-07-31       Impact factor: 6.318

Review 5.  Ciliary dyskinesia in the nose and paranasal sinuses.

Authors:  M Jorissen; B Bertrand; P Eloy
Journal:  Acta Otorhinolaryngol Belg       Date:  1997

Review 6.  Situs inversus and ciliary abnormalities. What is the connection?

Authors:  B A Afzelius
Journal:  Int J Dev Biol       Date:  1995-10       Impact factor: 2.203

7.  Primary ciliary dyskinesia: diagnostic and phenotypic features.

Authors:  Peadar G Noone; Margaret W Leigh; Aruna Sannuti; Susan L Minnix; Johnny L Carson; Milan Hazucha; Maimoona A Zariwala; Michael R Knowles
Journal:  Am J Respir Crit Care Med       Date:  2003-12-04       Impact factor: 21.405

8.  Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Authors:  Lucia Bartoloni; Jean-Louis Blouin; Yanzhen Pan; Corinne Gehrig; Amit K Maiti; Nathalie Scamuffa; Colette Rossier; Mark Jorissen; Miguel Armengot; Maggie Meeks; Hannah M Mitchison; Eddie M K Chung; Celia D Delozier-Blanchet; William J Craigen; Stylianos E Antonarakis
Journal:  Proc Natl Acad Sci U S A       Date:  2002-07-25       Impact factor: 11.205

Review 9.  Cell biology of normal and abnormal ciliogenesis in the ciliated epithelium.

Authors:  Haruo Hagiwara; Nobuo Ohwada; Kuniaki Takata
Journal:  Int Rev Cytol       Date:  2004

10.  Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia.

Authors:  Mark A Chilvers; Andrew Rutman; Christopher O'Callaghan
Journal:  J Allergy Clin Immunol       Date:  2003-09       Impact factor: 10.793

View more
  3 in total

Review 1.  The primary cilia of secretory cells in the human oviduct mucosa.

Authors:  Haruo Hagiwara; Nobuo Ohwada; Takeo Aoki; Takeshi Suzuki; Kuniaki Takata
Journal:  Med Mol Morphol       Date:  2008-12-24       Impact factor: 2.309

Review 2.  The development and functions of multiciliated epithelia.

Authors:  Nathalie Spassky; Alice Meunier
Journal:  Nat Rev Mol Cell Biol       Date:  2017-04-12       Impact factor: 94.444

3.  Scoliosis convexity and organ anatomy are related.

Authors:  Tom P C Schlösser; Tom Semple; Siobhán B Carr; Simon Padley; Michael R Loebinger; Claire Hogg; René M Castelein
Journal:  Eur Spine J       Date:  2017-02-08       Impact factor: 3.134

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.