scholarly journals Evolutional and clinical implications of the epigenetic regulation of protein glycosylation

2011 ◽  
Vol 2 (2) ◽  
pp. 425-432 ◽  
Author(s):  
Tomislav Horvat ◽  
Vlatka Zoldoš ◽  
Gordan Lauc
Oral Oncology ◽  
2015 ◽  
Vol 51 (12) ◽  
pp. 1061-1068 ◽  
Author(s):  
Wendy D’Souza ◽  
Dhananjaya Saranath

2010 ◽  
Vol 53 (3) ◽  
pp. 568-577 ◽  
Author(s):  
J.U. Marquardt ◽  
V.M. Factor ◽  
S.S. Thorgeirsson

2010 ◽  
Vol 1 (3-4) ◽  
pp. 253-261 ◽  
Author(s):  
Vlatka Zoldoš ◽  
Srđana Grgurević ◽  
Gordan Lauc

AbstractProtein N-glycosylation is an ancient metabolic pathway that still exists in all three domains of life (Archaea, Bacteria and Eukarya). The covalent addition of one or more complex oligosaccharides (glycans) to protein backbones greatly diversifies their structures and makes the glycoproteome several orders of magnitude more complex than the proteome itself. Contrary to polypeptides, which are defined by a sequence of nucleotides in the corresponding genes, the glycan part of glycoproteins are encoded in a complex dynamic network of hundreds of proteins, whereby activity is defined by both genetic sequence and the regulation of gene expression. Owing to the complex nature of their biosynthesis, glycans are particularly versatile and apparently a large part of human variation derives from differences in protein glycosylation. Composition of the individual glycome appears to be rather stable, and thus differences in the pattern of glycan synthesis between individuals could originate either from genetic polymorphisms or from stable epigenetic regulation of gene expression in different individuals. Studies of epigenetic modification of genes involved in protein glycosylation are still scarce, but their results indicate that this process might be very important for the regulation of protein glycosylation.


1984 ◽  
Vol 15 (1) ◽  
pp. 44-50 ◽  
Author(s):  
Michael P. Rastatter ◽  
Melvin Hyman

A group of sophisticated listeners judged the nasal resonance characteristics of normal children versus children evidencing selected rhinologic disorders under three speaking conditions. Results showed that perceptions of denasality are influenced by both speakers and speaking tasks. That is, children with allergic rhinitis and edemic adenoids were perceived as being denasal when they produced VCV utterances and recited sentences. However, their resonance characteristics were deemed normal for vowel productions. Interestingly, children with severely deviated septums were judged to have normal nasal resonance under all speaking conditions. Clinical implications are discussed.


2019 ◽  
Vol 4 (6) ◽  
pp. 1311-1315
Author(s):  
Sergey M. Kondrashov ◽  
John A. Tetnowski

Purpose The purpose of this study was to assess the perceptions of stuttering of school-age children who stutter and those of adults who stutter through the use of the same tools that could be commonly used by clinicians. Method Twenty-three participants across various ages and stuttering severity were administered both the Stuttering Severity Instrument–Fourth Edition (SSI-4; Riley, 2009 ) and the Wright & Ayre Stuttering Self-Rating Profile ( Wright & Ayre, 2000 ). Comparisons were made between severity of behavioral measures of stuttering made by the SSI-4 and by age (child/adult). Results Significant differences were obtained for the age comparison but not for the severity comparison. Results are explained in terms of the correlation between severity equivalents of the SSI-4 and the Wright & Ayre Stuttering Self-Rating Profile scores, with clinical implications justifying multi-aspect assessment. Conclusions Clinical implications indicate that self-perception and impact of stuttering must not be assumed and should be evaluated for individual participants. Research implications include further study with a larger subject pool and various levels of stuttering severity.


2020 ◽  
Vol 5 (6) ◽  
pp. 1767-1775
Author(s):  
Martha S. Burns

Purpose Adolescence is a period of substantial neurophysiological and behavioral growth, representing a second sensitive period of brain development. It is a psychological and social transition period between childhood and adulthood with many beneficial changes occurring, especially with respect to potential responsiveness to clinical intervention. However, adolescent behavioral complexities introduce clinical challenges as well. The purpose of this review article is to review the current neuroimaging research on neurophysiological changes observed during adolescence and the cognitive and social behavioral counterparts, with specific attention to the clinical implications. The review article will then summarize currently available intervention tools that can be utilized by speech-language pathologists working with this population. It will conclude with available evidence-based social-communication approaches that may be applicable as well as available evidence-based supplemental technological cognitive interventions that may be useful in working with adolescents who exhibit language and communication issues. Conclusion As a transition period between childhood and adulthood, adolescence represents a second sensitive period during which there is opportunity for clinically derived beneficial cognitive and communication growth.


2020 ◽  
Vol 5 (2) ◽  
pp. 439-456
Author(s):  
Jenny L. Pierce

Purpose This review article provides an overview of autoimmune diseases and their effects on voice and laryngeal function. Method A literature review was conducted in PubMed. Combinations of the following keywords were used: “autoimmune disease and upper airway,” “larynx,” “cough,” “voice,” “dysphonia,” and “dyspnea.” Precedence was given to articles published in the past 10 years due to recent advances in this area and to review articles. Ultimately, 115 articles were included for review. Results Approximately 81 autoimmune diseases exist, with 18 of those highlighted in the literature as having laryngeal involvement. The general and laryngeal manifestations of these 18 are discussed in detail, in addition to the clinical implications for a laryngeal expert. Conclusions Voice, breathing, and cough symptoms may be an indication of underlying autoimmune disease. However, these symptoms are often similar to those in the general population. Appropriate differential diagnosis and timely referral practices maximize patient outcomes. Guidelines are provided to facilitate correct diagnosis when an autoimmune disease is suspected.


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