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Microfluidic Systems: Recent Advances in Chronic Disease Diagnosis and Their Therapeutic Management
Microfluidics has advanced the area of diagnostics during the past ten years by offering fresh approaches that weren’t achievable with traditional...
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Drug Discovery and Development for Rare Genetic Disorders
A rare disease is any condition that has an extremely low prevalence on an individual basis, and most rare diseases are genetic disorders. Owing to... -
PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families
Childhood-onset osteoporosis is a rare but clinically significant condition. Studies have shown pathogenic variants in more than 20 different genes...
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Aptamer-functionalized MOFs and AI-driven strategies for early cancer diagnosis and therapeutics
Metal–Organic Frameworks (MOFs) have exceptional inherent properties that make them highly suitable for diverse applications, such as catalysis,...
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Detection and Diagnosis of Important Soil-Borne Pathogens
The agricultural industry has serious economic concerns globally because soil-borne plant diseases can result in catastrophic losses in crop yields,... -
Looking for a systemic concept and physiological diagnosis of a plant stress state
Plant stress state is defined here as an endogenous physiological condition associated with homeostasis disruption involving irreversible or...
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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease
BackgroundX-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing...
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Do CRISPR-based disease diagnosis methods qualify as point-of-care diagnostics for plant diseases?
Effective plant disease management calls for a rapid, precise, and a convenient field-deployable method for early diagnosis of phytopathogens,...
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Interfering factors in the diagnosis of Senecavirus A
BackgroundSenecavirus A (SV-A) is an RNA virus that belongs to the genus Senecavirus within the family Picornaviridae. This study aimed to analyze...
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From genetic correlations of Alzheimer’s disease to classification with artificial neural network models
Sporadic Alzheimer’s disease (AD) is a complex neurological disorder characterized by many risk loci with potential associations with different...
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Epigenetics in the Diagnosis, Prognosis, and Therapy of Cancer
As cancer is the leading cause of death worldwide, there is an urgent necessity to discover novel diagnostic and prognostic biomarkers as well as... -
Editing Genetic Material
In the preceding sections we have become acquainted with cases in which genetic diagnostics led to a reduction of hereditary diseases in population... -
Different Methods of Microscopic and Bacteriological Diagnosis of Tuberculosis
Tuberculosis (TB) remains one of the largest preventable causes of death worldwide with an estimated 1.6 million deaths and ten million infections... -
Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations
Large-scale copy number variants (CNVs) are structural alterations in the genome that involve the duplication or deletion of DNA segments,...
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Imaging Techniques and Biochemical Biomarkers: New Insights into Diagnosis of Pancreatic Cancer
Pancreatic cancer (PaC) incidence is increasing, but our current screening and diagnostic strategies are not very effective. However, screening could...
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Prominent genetic variants and epigenetic changes in post-traumatic stress disorder among combat veterans
Post-traumatic stress disorder (PTSD) is one of the most widespread and disabling psychiatric disorders among combat veterans. Substantial...
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Genetic Testing in Pregnancy to Assess the Risk of Preterm Birth
Preterm birth (PTB) is one of the leading causes of infant and child mortality under 5 years of age. PTB infants have long-term health consequences... -
Understanding the Genetic Basis of Celiac Disease: A Comprehensive Review
Celiac disease is an immune-mediated enteropathy with typical symptoms of weight loss, abdominal bloating, diarrhea, vomiting, or constipation. Many...
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A survey of awareness of diagnosis and treatment of rare diseases among healthcare professionals and researchers in India
Rare diseases (RDs) are those that affect a small fraction of the total population. In India, where resources are scarce, the healthcare...
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Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein
Intellectual developmental disorder, X-linked 104 (XLID104), caused by the FRMPD4 gene variant, is a rare X-linked genetic disease that primarily...