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Page 1
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Aller E, Jaijo T, Millán JM, García-García G. Fuster-García C, et al. Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723. Int J Mol Sci. 2021. PMID: 34201633 Free PMC article. Review.
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. ...In this paper, we review the genetics of Usher syndrome and the spectrum of …
Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pig …
Ciliopathy: Usher Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:167-170. doi: 10.1007/978-3-319-95046-4_32. Adv Exp Med Biol. 2018. PMID: 30578505 Review.
Most patients retain central vision of about 20/40 until about age 40. Usher Syndrome 1 (USH1): Profound congenital sensorineural hearing loss on audiometry, absent vestibular function, and typical RP (onset by 10 years of age); accounts for about 70% of all …
Most patients retain central vision of about 20/40 until about age 40. Usher Syndrome 1 (USH1): Profound congenital sen …
Redefining critical illness.
Maslove DM, Tang B, Shankar-Hari M, Lawler PR, Angus DC, Baillie JK, Baron RM, Bauer M, Buchman TG, Calfee CS, Dos Santos CC, Giamarellos-Bourboulis EJ, Gordon AC, Kellum JA, Knight JC, Leligdowicz A, McAuley DF, McLean AS, Menon DK, Meyer NJ, Moldawer LL, Reddy K, Reilly JP, Russell JA, Sevransky JE, Seymour CW, Shapiro NI, Singer M, Summers C, Sweeney TE, Thompson BT, van der Poll T, Venkatesh B, Walley KR, Walsh TS, Ware LB, Wong HR, Zador ZE, Marshall JC. Maslove DM, et al. Nat Med. 2022 Jun;28(6):1141-1148. doi: 10.1038/s41591-022-01843-x. Epub 2022 Jun 17. Nat Med. 2022. PMID: 35715504 Review.
Research and practice in critical care medicine have long been defined by syndromes, which, despite being clinically recognizable entities, are, in fact, loose amalgams of heterogeneous states that may respond differently to therapy. Mounting translational evidence-support …
Research and practice in critical care medicine have long been defined by syndromes, which, despite being clinically recognizable ent …
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 …
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S, El-Amraoui A. Delmaghani S, et al. Hum Genet. 2022 Apr;141(3-4):709-735. doi: 10.1007/s00439-022-02448-7. Epub 2022 Mar 30. Hum Genet. 2022. PMID: 35353227 Free PMC article. Review.
Usher syndrome (USH) is the most common cause of deaf-blindness in humans, with a prevalence of about 1/10,000 (~ 400,000 people worldwide). ...The advent of precision medicine calls for a clear and more precise diagnosis of Usher syndrome, expl …
Usher syndrome (USH) is the most common cause of deaf-blindness in humans, with a prevalence of about 1/10,000 (~ 400,0 …
The central role of inflammatory signaling in the pathogenesis of myelodysplastic syndromes.
Sallman DA, List A. Sallman DA, et al. Blood. 2019 Mar 7;133(10):1039-1048. doi: 10.1182/blood-2018-10-844654. Epub 2019 Jan 22. Blood. 2019. PMID: 30670444 Free PMC article. Review.
In the past decade, aberrant innate immune activation and proinflammatory signaling within the malignant clone and the bone marrow (BM) microenvironment were identified as key pathogenic drivers of myelodysplastic syndromes (MDS). In particular, S100A9-mediated NOD-like re …
In the past decade, aberrant innate immune activation and proinflammatory signaling within the malignant clone and the bone marrow (BM) micr …
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I, Morín M, Domínguez-Ruiz M, Moreno-Pelayo MA. Del Castillo I, et al. Hum Genet. 2022 Apr;141(3-4):683-696. doi: 10.1007/s00439-021-02425-6. Epub 2022 Jan 19. Hum Genet. 2022. PMID: 35044523 Review.
Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.
Mathur P, Yang J. Mathur P, et al. Biochim Biophys Acta. 2015 Mar;1852(3):406-20. doi: 10.1016/j.bbadis.2014.11.020. Epub 2014 Dec 4. Biochim Biophys Acta. 2015. PMID: 25481835 Free PMC article. Review.
Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic cause of combined hearing and vision loss. ...
Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic cause of combined hearing and vision lo …
New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome.
Major L, McClements ME, MacLaren RE. Major L, et al. Int J Mol Sci. 2022 Oct 1;23(19):11669. doi: 10.3390/ijms231911669. Int J Mol Sci. 2022. PMID: 36232969 Free PMC article. Review.
The USH2A gene at ~15.7 kb for instance is too large for AAV delivery: a safe and effective vehicle capable of transducing photoreceptor cells for gene replacement therapy. Usher Syndrome is a clinically and genetically heterogenous deaf-blindness syndrome wi …
The USH2A gene at ~15.7 kb for instance is too large for AAV delivery: a safe and effective vehicle capable of transducing photoreceptor cel …
Pathogenesis and Treatment of Usher Syndrome Type IIA.
Zaw K, Carvalho LS, Aung-Htut MT, Fletcher S, Wilton SD, Chen FK, McLenachan S. Zaw K, et al. Asia Pac J Ophthalmol (Phila). 2022 Jul-Aug 01;11(4):369-379. doi: 10.1097/APO.0000000000000546. Epub 2022 Aug 17. Asia Pac J Ophthalmol (Phila). 2022. PMID: 36041150 Review.
Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per 100,000 people worldwide. The most common form of USH is type IIA (USH2A), which is caused by homozygous or compound heterozygous mutations in the …
Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per 100,000 people …
112 results