![](images/graphics/blank.gif)
Human genetic diseases
-
This book is a reference guide for scientists working in food ingredients, food product research and development, functional foods and nutraceuticals, crop breeding and genetics, human nutrition, post-harvest treatment and processing of cereal grains and pulses. It will enable them to effect value-added food innovation for health promotion and disease risk reduction.
319p
vimeyers
29-05-2024
3
2
Download
-
Ebook "Stem cells in modeling human genetic diseases" examples of the use of iPS cell technology, a recent Nobel Prize-winning scientific breakthrough, to obtain patient-specific pluripotent cells from which many types of specialized cells involved in a particular disease can be generated, including psychiatric and neurodegenerative disorders, muscular dystrophies, laminopathies, among others.
157p
ladongphongthanh1008
22-04-2024
6
2
Download
-
Ebook "Systems biology of RNA binding proteins" provides case studies of RNA binding proteins that regulate aspects of RNA processing that are important for fundamental understanding of diseases and development. Chapters include systems-level perspectives, mechanistic insights into RNA processing and RNA Binding proteins in genetic variation, development and disease. The content focuses on systems biology and genomics of RNA Binding proteins and their relation to human diseases.
474p
ladongphongthanh1008
22-04-2024
5
1
Download
-
Avian influenza A viruses (AIVs) pose a threat to global health because of their sporadic zoonotic transmission and potential to cause pandemics. Genomic surveillance of AIVs has become a powerful, costeffective approach for studying virus transmission, evolution, and dissemination, and has the potential to inform outbreak control efforts and policies.
4p
vibransone
28-03-2024
2
2
Download
-
International guidelines for variant interpretation in Mendelian disease set stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive rate over test sensitivity and diagnostic yield.
18p
vibransone
28-03-2024
2
2
Download
-
Next-generation sequencing has allowed for the identification of different genetic variations, which are known to contribute to diseases. Of these, insertions and deletions are the second most abundant type of variations in the genome, but their biological importance or disease association is not well-studied, especially for deletions of intermediate sizes.
15p
vibransone
28-03-2024
2
2
Download
-
Humans and viruses have co-evolved for millennia resulting in a complex host genetic architecture. Understanding the genetic mechanisms of immune response to viral infection provides insight into disease etiology and therapeutic opportunities.
18p
vibransone
28-03-2024
2
2
Download
-
Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP). The use of in silico algorithms to predict whether amino acid substitutions result in human disease is inconsistent across clinical laboratories.
3p
vioraclene
31-03-2024
3
2
Download
-
Genome-wide association studies (GWAS) have identified hundreds of genetic variants associated with complex traits and diseases. However, elucidating the causal genes underlying GWAS hits remains challenging.
6p
vioraclene
31-03-2024
4
2
Download
-
Genomic analysis of the molecular neuropathology of tuberous sclerosis using a human stem cell model
Tuberous sclerosis complex (TSC) is a genetic disease characterized by benign tumor growths in multiple organs and neurological symptoms induced by mTOR hyperfunction. Because the molecular pathology is highly complex and the etiology poorly understood, we employed a defined human neuronal model with a single mTOR activating mutation to dissect the disease-relevant molecular responses driving the neuropathology and suggest new targets for treatment.
14p
vioraclene
31-03-2024
2
1
Download
-
Obesity and type 2 diabetes (T2D) are linked both with host genetics and with environmental factors, including dysbioses of the gut microbiota. However, it is unclear whether these microbial changes precede disease onset.
14p
vioraclene
31-03-2024
4
2
Download
-
Splicing of genomic exons into mRNAs is a critical prerequisite for the accurate synthesis of human proteins. Genetic variants impacting splicing underlie a substantial proportion of genetic disease, but are challenging to identify beyond those occurring at donor and acceptor dinucleotides.
12p
vibransone
28-03-2024
3
2
Download
-
Genome-wide association studies (GWAS) have uncovered thousands of genetic variants that influence risk for human diseases and traits. Yet understanding the mechanisms by which these genetic variants, mainly noncoding, have an impact on associated diseases and traits remains a significant hurdle.
20p
vibransone
28-03-2024
2
2
Download
-
Mutations in the DMD gene encoding dystrophin—a critical structural element in muscle cells— cause Duchenne muscular dystrophy (DMD), which is the most common fatal genetic disease. Clustered regularly interspaced short palindromic repeat (CRISPR)-mediated gene editing is a promising strategy for permanently curing DMD.
19p
vibransone
28-03-2024
5
2
Download
-
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses
The interleukin (IL)-1 pathway is primarily associated with innate immunological defense and plays a major role in the induction and regulation of inflammation. Both common and rare genetic variation in this pathway underlies various inflammation-mediated diseases, but the role of rare variants relative to common variants in immune response variability in healthy individuals remains unclear.
17p
vibransone
28-03-2024
2
2
Download
-
Non-coding regulatory elements (NCREs), such as enhancers, play a crucial role in gene regulation, and genetic aberrations in NCREs can lead to human disease, including brain disorders. The human brain is a complex organ that is susceptible to numerous disorders.
27p
vibransone
28-03-2024
7
2
Download
-
Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible comprehensive curation tools necessary for analyzing an individual patient genome and interpreting genetic variants to inform healthcare management have been lacking.
12p
vibransone
28-03-2024
2
2
Download
-
Identification of causal genes for polygenic human diseases has been extremely challenging, and our understanding of how physiological and pharmacological stimuli modulate genetic risk at disease-associated loci is limited.
16p
viellison
28-03-2024
7
2
Download
-
The genetic underpinning of sexual dimorphism is very poorly understood. The prevalence of many diseases differs between men and women, which could be in part caused by sex-specific genetic efects. Nevertheless, only a few published genome-wide association studies (GWAS) were performed separately in each sex.
13p
viellison
28-03-2024
2
2
Download
-
Next-generation sequencing (NGS) based population screening holds great promise for disease prevention and earlier diagnosis, but the costs associated with screening millions of humans remain prohibitive. New methods for population genetic testing that lower the costs of NGS without compromising diagnostic power are needed.
12p
vicwell
29-02-2024
5
1
Download
CHỦ ĐỀ BẠN MUỐN TÌM
![](images/graphics/blank.gif)