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Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
Stemerdink M, García-Bohórquez B, Schellens R, Garcia-Garcia G, Van Wijk E, Millan JM. Stemerdink M, et al. Hum Genet. 2022 Apr;141(3-4):737-758. doi: 10.1007/s00439-021-02324-w. Epub 2021 Jul 30. Hum Genet. 2022. PMID: 34331125 Review.
Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a combination of sensorineural hearing loss and a progressive loss of vision resulting from retinitis pigmentosa (RP), occasionally accompanied by an altered vestibular function. . …
Usher syndrome (USH) is a rare, autosomal recessively inherited disorder resulting in a combination of sensorineural hearing l …
USH2A-retinopathy: From genetics to therapeutics.
Toualbi L, Toms M, Moosajee M. Toualbi L, et al. Exp Eye Res. 2020 Dec;201:108330. doi: 10.1016/j.exer.2020.108330. Epub 2020 Oct 27. Exp Eye Res. 2020. PMID: 33121974 Free PMC article. Review.
Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod photoreceptor loss resulting in nyctalopia and a constricted visual field, f …
Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic retinitis pigmentosa. In …
Towards a Cure for HARS Disease.
Wilhelm SDP, Kenana R, Qiu Y, O'Donoghue P, Heinemann IU. Wilhelm SDP, et al. Genes (Basel). 2023 Jan 18;14(2):254. doi: 10.3390/genes14020254. Genes (Basel). 2023. PMID: 36833180 Free PMC article. Review.
Histidyl-tRNA synthetase (HARS) ligates histidine to its cognate transfer RNA (tRNA(His)). Mutations in HARS cause the human genetic disorders Usher syndrome type 3B (USH3B) and Charcot-Marie-Tooth syndrome type 2W (CMT2W). ...
Histidyl-tRNA synthetase (HARS) ligates histidine to its cognate transfer RNA (tRNA(His)). Mutations in HARS cause the human genetic disorde …
Ethnicity and Metabolic Syndrome: Implications for Assessment, Management and Prevention.
Lear SA, Gasevic D. Lear SA, et al. Nutrients. 2019 Dec 19;12(1):15. doi: 10.3390/nu12010015. Nutrients. 2019. PMID: 31861719 Free PMC article. Review.
The metabolic syndrome (MetS) is a constellation of cardiometabolic risk factors that identifies people at increased risk for type 2 diabetes and cardiovascular disease. ...
The metabolic syndrome (MetS) is a constellation of cardiometabolic risk factors that identifies people at increased risk for type …
Bardet-Biedl syndrome and Usher syndrome.
Koenig R. Koenig R. Dev Ophthalmol. 2003;37:126-40. doi: 10.1159/000072043. Dev Ophthalmol. 2003. PMID: 12876834 Review.
Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. ...Each of the three clinical types is genetically heterogeneous: 7 loci …
Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP …
Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.
Mathur PD, Yang J. Mathur PD, et al. Hear Res. 2019 Apr;375:14-24. doi: 10.1016/j.heares.2019.02.007. Epub 2019 Feb 22. Hear Res. 2019. PMID: 30831381 Free PMC article. Review.
Usher syndrome (USH) is the leading cause of inherited combined vision and hearing loss. ...The molecular mechanisms underlying the variable disease manifestations associated with USH gene mutations are unclear. This review focuses on an USH type 2 (US …
Usher syndrome (USH) is the leading cause of inherited combined vision and hearing loss. ...The molecular mechanisms underlyin …
Advances in genetic hearing loss: CIB2 gene.
Jacoszek A, Pollak A, Płoski R, Ołdak M. Jacoszek A, et al. Eur Arch Otorhinolaryngol. 2017 Apr;274(4):1791-1795. doi: 10.1007/s00405-016-4330-9. Epub 2016 Oct 22. Eur Arch Otorhinolaryngol. 2017. PMID: 27771768 Free PMC article. Review.
It can be caused by genetic or environmental factors or both of them. Calcium- and integrin-binding protein 2 (CIB2) is one of the recently identified genes, involved in HI pathogenesis. ...To date, mutations detected in CIB2 are causative for nonsyndromic hearing loss (DF …
It can be caused by genetic or environmental factors or both of them. Calcium- and integrin-binding protein 2 (CIB2) is one of the re …
Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.
Sorusch N, Wunderlich K, Bauss K, Nagel-Wolfrum K, Wolfrum U. Sorusch N, et al. Adv Exp Med Biol. 2014;801:527-33. doi: 10.1007/978-1-4614-3209-8_67. Adv Exp Med Biol. 2014. PMID: 24664740 Review.
The human Usher syndrome (USH) is the most frequent cause of combined hereditary deaf-blindness. ...The analysis of USH protein networks revealed molecular links of USH to other ciliopathies, including non-syndromic inner ear defects and isolated retinal dystrophies …
The human Usher syndrome (USH) is the most frequent cause of combined hereditary deaf-blindness. ...The analysis of USH protei …
Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy.
Williams DS. Williams DS. Vision Res. 2008 Feb;48(3):433-41. doi: 10.1016/j.visres.2007.08.015. Epub 2007 Oct 23. Vision Res. 2008. PMID: 17936325 Free PMC article. Review.
Three clinical subtypes of Usher syndrome have been identified, with mutations in any one of six different genes giving rise to type 1, in any one of three different genes to type 2, and in one identified gene causing Usher type 3. …
Three clinical subtypes of Usher syndrome have been identified, with mutations in any one of six different genes giving rise t …
Toward an Improved Classification of Type 2 Diabetes: Lessons From Research into the Heterogeneity of a Complex Disease.
Redondo MJ, Balasubramanyam A. Redondo MJ, et al. J Clin Endocrinol Metab. 2021 Nov 19;106(12):e4822-e4833. doi: 10.1210/clinem/dgab545. J Clin Endocrinol Metab. 2021. PMID: 34291809 Free PMC article. Review.
CONTEXT: Accumulating evidence indicates that type 2 diabetes (T2D) is phenotypically heterogeneous. Defining and classifying variant forms of T2D are priorities to better understand its pathophysiology and usher clinical practice into an era of "precision di …
CONTEXT: Accumulating evidence indicates that type 2 diabetes (T2D) is phenotypically heterogeneous. Defining and classifying …
24 results