“…It would also help establish personalized medicine for heart failure and usher in the long-awaited treatment for intractable severe heart failure using ventricular muscle supplementation.…”
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“…Sixty two had had a clinical diagnosis of retinitis pigmentosa (RP) or Usher syndrome with normal visual acuity. Others included a case of Leber congenital amaurosis and genetically confirmed cases of cone or cone-rod dystrophy (GUCA1A, RPGR, RIMS1), “cone dystrophy with supernormal rod ERG” (KCNV2) and X-linked retinoschisis (RS1). …”
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“…METHODOLOGY/PRINCIPAL FINDINGS: In this study, we determined the components of SurA required for chaperone activity using in vivo phenotypes relevant to disease causation by uropathogenic E. coli (UPEC), namely membrane resistance to permeation by antimicrobials and maturation of the type 1 pilus usher FimD. FimD is a SurA-dependent, integral outer membrane protein through which heteropolymeric type 1 pili, which confer bladder epithelial binding and invasion capacity upon uropathogenic E. coli, are assembled and extruded. …”
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“…Most notably, gene ontology analysis of the Ashkenazi Jewish genetic signature revealed an enrichment of genes functioning in transepithelial chloride transport, such as CFTR, and in equilibrioception, potentially shedding light on cystic fibrosis, Usher syndrome and other diseases over-represented in the Ashkenazi Jewish population. …”
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“…OA and OE together have the power to revolutionize scientific publishing and usher in a new culture of transparency, constructive criticism, and collaboration.…”
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“…While other USH1C mutations usually cause Usher type I (including RP, vestibular dysfunction and congenital deafness), audiometric screening of 10 patients who are homozygous for c.1220delG revealed that patients under 40 years of age had normal hearing while older patients showed mild to severe high tone sensorineural hearing loss. …”
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“…These include dominant and recessive non-syndromic hearing loss and syndromic conditions such as Usher syndrome. Mouse models of deafness allow us to investigate functional pathways involved in normal and abnormal hearing processes. …”
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“…The formation of biofilms by K. pneumoniae requires the expression of type 3 fimbriae: elongate proteinaceous filaments extruded by a chaperone-usher system in the bacterial outer membrane. The expression of the mrkABCDF cluster that encodes this fimbrial system is strongly positively regulated by MrkH, a transcriptional activator that responds to the second messenger, c-di-GMP. …”
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“…Further, we propose that the yeast TRAPPII complex and its mammalian counterpart are evolutionarily related to the bacterial periplasmic trafficking chaperone PapD of the usher pili assembly machinery.…”
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“…The waltzer (v) mouse mutant harbors a mutation in Cadherin 23 (Cdh23) and is a model for Usher syndrome type 1D, which is characterized by congenital deafness, vestibular dysfunction, and prepubertal onset of progressive retinitis pigmentosa. …”
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“…Deployment of regenerative principles into practice is poised to usher in a new era in health care, driving radical innovation in patient management to address the needs of an aging population challenged by escalating chronic diseases. …”
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“…This CKK binding motif (CBM) is adjacent to the domain that interacts with harmonin, a binding partner of CDH23 implicated in deafness. Because the human Usher Syndrome 1D-associated mutation, CDH23 R3175H, maps to the CBM, we created a matched mutation in mouse CDH23-C at R55H. …”
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“…Clinical diagnoses included Retinitis Pigmentosa (RP), Leber Congenital Amaurosis (LCA), Stargardt Disease (STGD), Best Macular Dystrophy (BMD), Usher Syndrome (USH), and other IRDs with undefined clinical diagnosis. …”
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“…We speculate that A1S_2811 regulates surface motility and biofilm formation, not by regulating type IV pili‐associated genes expression, but by regulating the chaperone/usher pili‐associated csuA/ABCDE operon and the AbaI‐dependent quorum‐sensing pathway‐associated A1S_0112‐0119 operon instead.…”
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“…Benefits of cochlear implantation for children with autism spectrum disorder, developmental delay, CHARGE syndrome, cerebral palsy, learning disorders, Usher syndrome, Waardenburg syndrome, and attention deficit/hyperactivity disorder are reviewed. …”
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“…Usher syndrome type 1 (USH1) is a major cause of inherited deafness and blindness in humans. …”
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“…I argue that in order to usher in this renewal, the concept of ambiguity should take on a guiding role in medical practice, both scientific and clinical. …”
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“…Lateral olfactory tract usher substance (LOTUS), a NgR antagonist, suppresses these pathological conditions. …”
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“…Lastly, we describe cutting-edge translations of basic anhedonia research into treatment and discuss how different conceptualizations of anhedonia, guided by recent theoretical and methodological advances, have begun to usher in a science of anhedonia that is consistent with increasingly personalized assessment and treatment. …”
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“…Further exploration of spontaneous databases with more extensive analyses could usher in a new era of “precision pharmacovigilance.”…”
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