Literature DB >> 8474110

Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.

D Bonneau1, F Raymond, C Kremer, J M Klossek, J Kaplan, F Patte.   

Abstract

Usher syndrome type I is an autosomal recessive disease characterised by congenital sensorineural deafness, involvement of the vestibular system, and progressive visual loss owing to retinitis pigmentosa. Here we report the association of this disease with bronchiectasis, chronic sinusitis, and reduced nasal mucociliary clearance in two sibs and we suggest Usher syndrome type I could be a primary ciliary disorder.

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Year:  1993        PMID： 8474110      PMCID： PMC1016312          DOI： 10.1136/jmg.30.3.253

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Kartagener's syndrome with familial eye changes.

Authors:  P SEGAL; M KIKIELA; S MRZYGLOD; I ZEROMSKA-ZBIERSKA
Journal:  Am J Ophthalmol       Date:  1963-05       Impact factor: 5.258

2.  Histopathology of the inner ear in Usher's syndrome as observed by light and electron microscopy.

Authors:  H Shinkawa; J B Nadol
Journal:  Ann Otol Rhinol Laryngol       Date:  1986 May-Jun       Impact factor: 1.547

3.  Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa.

Authors:  G B Arden; B Fox
Journal:  Nature       Date:  1979-06-07       Impact factor: 49.962

4.  Kartagener's syndrome and deaf-mutism: an unusual association.

Authors:  K Lake; O P Sharma
Journal:  Chest       Date:  1973-11       Impact factor: 9.410

5.  Comparison of three methods for measuring nasal mucociliary clearance in man.

Authors:  E Puchelle; F Aug; Q T Pham; A Bertrand
Journal:  Acta Otolaryngol       Date:  1981 Mar-Apr       Impact factor: 1.494

6.  Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity.

Authors:  G A Fishman; A Kumar; M E Joseph; N Torok; R J Anderson
Journal:  Arch Ophthalmol       Date:  1983-09

7.  Usher syndrome: definition and estimate of prevalence from two high-risk populations.

Authors:  J A Boughman; M Vernon; K A Shaver
Journal:  J Chronic Dis       Date:  1983
  7 in total
  17 in total

1.  Nasal ciliary beat frequency and beat pattern in retinal ciliopathies.

Authors:  Miguel Armengot; David Salom; Manuel Diaz-Llopis; Jose M Millan; Javier Milara; Manuel Mata; Julio Cortijo
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-04-24       Impact factor: 4.799

Review 2.  Cilia dysfunction in lung disease.

Authors:  Ann E Tilley; Matthew S Walters; Renat Shaykhiev; Ronald G Crystal
Journal:  Annu Rev Physiol       Date:  2014-10-29       Impact factor: 19.318

Review 3.  Primary ciliary dyskinesia and associated sensory ciliopathies.

Authors:  Amjad Horani; Thomas W Ferkol
Journal:  Expert Rev Respir Med       Date:  2016-03-28       Impact factor: 3.772

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.  Primary ciliary dyskinesia: current state of the art.

Authors:  Andrew Bush; Rahul Chodhari; Nicola Collins; Fiona Copeland; Pippa Hall; Jonny Harcourt; Mohamed Hariri; Claire Hogg; Jane Lucas; Hannah M Mitchison; Christopher O'Callaghan; Gill Phillips
Journal:  Arch Dis Child       Date:  2007-07-18       Impact factor: 3.791

6.  Sequencing of the olfactory marker protein gene in normal and shaker-1 mutant mice.

Authors:  K A Brown; M J Sutcliffe; K P Steel; S D Brown
Journal:  Mamm Genome       Date:  1994-01       Impact factor: 2.957

Review 7.  Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy.

Authors:  David S Williams
Journal:  Vision Res       Date:  2007-10-23       Impact factor: 1.886

8.  Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B.

Authors:  T Hasson; M B Heintzelman; J Santos-Sacchi; D P Corey; M S Mooseker
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-10       Impact factor: 11.205

Review 9.  Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.

Authors:  M Stemerdink; B García-Bohórquez; R Schellens; G Garcia-Garcia; E Van Wijk; J M Millan
Journal:  Hum Genet       Date:  2021-07-30       Impact factor: 4.132

Review 10.  Usher Syndrome: Genetics of a Human Ciliopathy.

Authors:  Carla Fuster-García; Belén García-Bohórquez; Ana Rodríguez-Muñoz; Elena Aller; Teresa Jaijo; José M Millán; Gema García-García
Journal:  Int J Mol Sci       Date:  2021-06-23       Impact factor: 5.923
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