Literature DB >> 35320418

Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.

Azmi Marouf1, Benjamin Johnson1, Kumar N Alagramam2,3,4.   

Abstract

Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive pigmentary retinopathy, and vestibular dysfunction. The degree and onset of hearing loss vary among subtypes I, II, and III, while blindness often occurs in the second to fourth decades of life. Usher type III (USH3), characterized by postlingual progressive sensorineural hearing loss, varying levels of vestibular dysfunction, and varying degrees of visual impairment, typically manifests in the first to second decades of life. While USH3 is rare, it is highly prevalent in certain populations. RP61, USH3, and USH3A symbolize the same disorder, with the latter symbol used more frequently in recent literature. This review focuses on the clinical features, epidemiology, molecular genetics, treatment, and research advances for sensory deficits in USH3A.
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

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Year:  2022        PMID: 35320418     DOI: 10.1007/s00439-022-02446-9

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  92 in total

1.  The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity.

Authors:  Jamie A Abbott; Ethan Guth; Cindy Kim; Cathy Regan; Victoria M Siu; C Anthony Rupar; Borries Demeler; Christopher S Francklyn; Susan M Robey-Bond
Journal:  Biochemistry       Date:  2017-07-07       Impact factor: 3.162

2.  A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.

Authors:  Elie Akoury; Elie El Zir; Ahmad Mansour; André Mégarbané; Jacek Majewski; Rima Slim
Journal:  Ophthalmic Genet       Date:  2011-06-15       Impact factor: 1.803

3.  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

4.  Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms.

Authors:  L Chen; D M Chetkovich; R S Petralia; N T Sweeney; Y Kawasaki; R J Wenthold; D S Bredt; R A Nicoll
Journal:  Nature       Date:  2000 Dec 21-28       Impact factor: 49.962

5.  Randomized, prospective, three-arm study to confirm the auditory safety and efficacy of artemether-lumefantrine in Colombian patients with uncomplicated Plasmodium falciparum malaria.

Authors:  Gabriel Carrasquilla; Clemencia Barón; Edwin M Monsell; Marc Cousin; Verena Walter; Gilbert Lefèvre; Oliver Sander; Laurel M Fisher
Journal:  Am J Trop Med Hyg       Date:  2012-01       Impact factor: 2.345

6.  Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.

Authors:  E Aller; T Jaijo; S Oltra; J Alió; F Galán; C Nájera; M Beneyto; J M Millán
Journal:  Clin Genet       Date:  2004-12       Impact factor: 4.438

7.  USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.

Authors:  Avital Adato; Sarah Vreugde; Tarja Joensuu; Nili Avidan; Riikka Hamalainen; Olga Belenkiy; Tsviya Olender; Batsheva Bonne-Tamir; Edna Ben-Asher; Carmen Espinos; José M Millán; Anna-Elina Lehesjoki; John G Flannery; Karen B Avraham; Shmuel Pietrokovski; Eeva-Marja Sankila; Jacques S Beckmann; Doron Lancet
Journal:  Eur J Hum Genet       Date:  2002-06       Impact factor: 4.246

8.  Auditory assessment of patients with acute uncomplicated Plasmodium falciparum malaria treated with three-day mefloquine-artesunate on the north-western border of Thailand.

Authors:  Verena I Carrara; Aung P Phyo; Paw Nwee; Ma Soe; Hsar Htoo; Jaruwan Arunkamomkiri; Pratap Singhasivanon; François Nosten
Journal:  Malar J       Date:  2008-11-06       Impact factor: 2.979

9.  Amodiaquine-artesunate vs artemether-lumefantrine for uncomplicated malaria in Ghanaian children: a randomized efficacy and safety trial with one year follow-up.

Authors:  George O Adjei; Jorgen A L Kurtzhals; Onike P Rodrigues; Michael Alifrangis; Lotte C G Hoegberg; Emmanuel D Kitcher; Ebenezer V Badoe; Roberta Lamptey; Bamenla Q Goka
Journal:  Malar J       Date:  2008-07-11       Impact factor: 2.979

10.  A small molecule mitigates hearing loss in a mouse model of Usher syndrome III.

Authors:  Kumar N Alagramam; Suhasini R Gopal; Ruishuang Geng; Daniel H-C Chen; Ina Nemet; Richard Lee; Guilian Tian; Masaru Miyagi; Karine F Malagu; Christopher J Lock; William R K Esmieu; Andrew P Owens; Nicola A Lindsay; Krista Ouwehand; Faywell Albertus; David F Fischer; Roland W Bürli; Angus M MacLeod; William E Harte; Krzysztof Palczewski; Yoshikazu Imanishi
Journal:  Nat Chem Biol       Date:  2016-04-25       Impact factor: 15.040

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  1 in total

Review 1.  The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.

Authors:  Sedigheh Delmaghani; Aziz El-Amraoui
Journal:  Hum Genet       Date:  2022-03-30       Impact factor: 5.881

  1 in total

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