scholarly journals An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection

1997 ◽  
Vol 6 (9) ◽  
pp. 1473-1481 ◽  
Author(s):  
T. Watnick
Keyword(s):  
Mutation Detection ◽  
Unusual Pattern ◽  
Novel Strategy

Abstract 5264: A novel strategy for accuurate and unambiguous mutation detection of the highly homologous PMS2 gene

2015 ◽  
Author(s):  
Jianli Li ◽  
Hongzheng Dai ◽  
Yangming Feng ◽  
Jia Tang ◽  
Stella Chen ◽  
...  
Keyword(s):  
Mutation Detection ◽  
Novel Strategy ◽  
Pms2 Gene

The Collaborative Network Approach: a model for advancing patient-centric research for Castleman disease and other rare diseases

2019 ◽  
Vol 3 (1) ◽  
pp. 97-105
Author(s):  
Mary Zuccato ◽  
Dustin Shilling ◽  
David C. Fajgenbaum
Keyword(s):  
Rare Diseases ◽  
Treatment Options ◽  
Castleman Disease ◽  
High Impact ◽  
Collaborative Network ◽  
Network Approach ◽  
Grant Applications ◽  
Research Questions ◽  
Novel Strategy ◽  
Patient Centric

Abstract There are ∼7000 rare diseases affecting 30 000 000 individuals in the U.S.A. 95% of these rare diseases do not have a single Food and Drug Administration-approved therapy. Relatively, limited progress has been made to develop new or repurpose existing therapies for these disorders, in part because traditional funding models are not as effective when applied to rare diseases. Due to the suboptimal research infrastructure and treatment options for Castleman disease, the Castleman Disease Collaborative Network (CDCN), founded in 2012, spearheaded a novel strategy for advancing biomedical research, the ‘Collaborative Network Approach’. At its heart, the Collaborative Network Approach leverages and integrates the entire community of stakeholders — patients, physicians and researchers — to identify and prioritize high-impact research questions. It then recruits the most qualified researchers to conduct these studies. In parallel, patients are empowered to fight back by supporting research through fundraising and providing their biospecimens and clinical data. This approach democratizes research, allowing the entire community to identify the most clinically relevant and pressing questions; any idea can be translated into a study rather than limiting research to the ideas proposed by researchers in grant applications. Preliminary results from the CDCN and other organizations that have followed its Collaborative Network Approach suggest that this model is generalizable across rare diseases.

Design and Optimization of a Novel Strategy for the Local Treatment of Helicobacter pylori Infections

2020 ◽  
Author(s):  
Taddese Mekonnen Ambay ◽  
Philipp Schick ◽  
Michael Grimm ◽  
Maximilian Sager ◽  
Felix Schneider ◽  
...  
Keyword(s):  
Helicobacter Pylori ◽  
Local Treatment ◽  
Design And Optimization ◽  
Novel Strategy

L cell stimulation: a novel strategy for oral peptide delivery in incretin-based diabetes treatment

2020 ◽  
Author(s):  
Ana Beloqui ◽  
Francesco Suriano ◽  
Matthias Hul ◽  
Yining Xu ◽  
Véronique Préat ◽  
...  
Keyword(s):  
Peptide Delivery ◽  
Diabetes Treatment ◽  
Cell Stimulation ◽  
Oral Peptide Delivery ◽  
L Cell ◽  
Novel Strategy

Unusual Pattern of Lymphocytic Alveolitis with CD4+Predominance

2005 ◽  
Vol 17 (02) ◽  
pp. 66-67
Author(s):  
André Moreira ◽  
Josefina Rodrigues ◽  
Luís Delgado ◽  
António Morais ◽  
Maria Palmares ◽  
...  
Keyword(s):  
Unusual Pattern

Melatonin: a novel strategy for prevention of obesity and fat accumulation in peripheral organs through the improvements of circadian rhythms and antioxidative capacity

2020 ◽  
Vol 3 (1) ◽  
pp. 58-76 ◽  
Author(s):  
Bohan Rong ◽  
Qiong Wu ◽  
Chao Sun
Keyword(s):  
Oxidative Stress ◽  
Skeletal Muscle ◽  
Circadian Rhythms ◽  
Regulatory Mechanisms ◽  
Antioxidative Capacity ◽  
Unicellular Alga ◽  
Peripheral Tissues ◽  
Peripheral Organs ◽  
Regulatory Effects ◽  
Novel Strategy

Melatonin is a well-known molecule for its involvement in circadian rhythm regulation and its contribution to protection against oxidative stress in organisms including unicellular alga, animals and plants. Currently, the bio-regulatory effects of melatonin on the physiology of various peripheral tissues have drawn a great attention of scientists. Although melatonin was previously defined as a neurohormone secreted from pineal gland, recently it has been identified that virtually, every cell has the capacity to synthesize melatonin and the locally generated melatonin has multiple pathophysiological functions, including regulations of obesity and metabolic syndromes. Herein, we focus on the effects of melatonin on fat deposition in various peripheral organs/tissues. The two important regulatory mechanisms related to the topic, i.e., the improvements of circadian rhythms and antioxidative capacity will be thoroughly discussed since they are linked to several biomarkers involved in obesity and energy imbalance, including metabolism and immunity. Furthermore, several other functions of melatonin which may serve to prevent or promote obesity and energy dysmetabolism-induced pathological states are also addressed. The organs of special interest include liver, pancreas, skeletal muscle, adipose tissue and the gut microbiota.

Sign in / Sign up

Export Citation Format

Share Document