Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia [PDF]
Neurobiology of Disease, 2017 FD is a rare neurodegenerative disorder caused by a mutation of the IKBKAP gene, which induces low expression levels of the Elongator subunit IKAP/hELP1 protein.
Mylène Hervé, El Chérif Ibrahim
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Application of continuous care based on IKAP theory in patients with diabetic macular edema [PDF]
Scientific ReportsThis study aimed to explore the effect of continuous care based on the information-knowledge-attitude-practice (IKAP) theory in patients with diabetic macular edema (DME).
Hongcai Wang +4 more
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AIP AdvancesObjective: This study aims to evaluate the effectiveness of a continuous nursing model based on the information-knowledge-attitude-practice (IKAP) theory for patients after radical prostatectomy. Methods: Data were collected from July 2022 to August 2023,
Lixia Wang +4 more
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Impact of continuous nursing care based on IKAP theory in patients undergoing cardiopulmonary bypass surgery: a cohort study [PDF]
Journal of Cardiothoracic SurgeryBackground This prospective study intends to investigate the effect of the Information–Knowledge–Attitude–Practice (IKAP) theory combined with continuous nursing care on patients undergoing cardiopulmonary bypass (CPB) surgery.
Xiaoyan Chen +7 more
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Prime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutation [PDF]
Orphanet Journal of Rare DiseasesFamilial Dysautonomia (FD, OMIM #223900) is a rare, life-threatening autosomal recessive neuropathy caused in 99.8% of patients by the c.2204 + 6T > C intronic mutation in the ELP1/IKAP gene. This substitution induces exon 20 skipping, leading to reduced
Laura Peretto +2 more
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Evaluating the health promotion effects of the IKAP care model in older adults with periodontitis [PDF]
Medicine (United States)This study assessed the impact of the information–knowledge–attitude–practice (IKAP) care model on health promotion among elderly patients diagnosed with periodontitis. Using a retrospective case-control design, 131 patients aged 60 years or older, treated between June 2022 and June 2024, were categorized into 2 groups: the IKAP care group (n = 68) and
Yeqian Zhu +4 more
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Effect of Continuous Nursing Based on IKAP Theory on Periodontal Indicators and Self-Management Ability of Patients With Periodontal Disease [PDF]
International Dental JournalPeriodontitis, a chronic inflammatory disease affecting over a billion people globally, requires effective long-term self-management for successful outcomes.
Xiaojie Yao, Ziqing Cheng
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MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia [PDF]
Disease Models & Mechanisms, 2016 Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C), leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ...
Mylène Hervé, El Chérif Ibrahim
doaj +5 more sources
Combined IKAP-Based Continuity Care and Bundle Care in Patients Undergoing Cerebrovascular Interventional Surgery: A Retrospective Study [PDF]
Patient Preference and AdherenceLiuyan Shen,1,* Weigui Jia,2,* Xue Mei,3 Jing Lyu4 1Department of Neurosurgery, The 904th Hospital of the Joint Logistics Support Force of Chinese People’s Liberation Army, National Advanced Stroke Center, Wuxi, People’s Republic of China;
Shen L, Jia W, Mei X, Lyu J
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Familial Dysautonomia Is Caused by Mutations of the IKAP Gene [PDF]
The American Journal of Human Genetics, 2001 The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome 9q31, has eluded identification. We identified and characterized the RNAs encoded by this region of chromosome 9 in cell lines derived from individuals homozygous for the major FD haplotype, and we observed that the RNA ...
Anderson, Sylvia L. +7 more
openaire +4 more sources