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Heritable diseases
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Ebook "Tight junctions" highlight the importance of understanding TJ physiology in order to develop effective strategies for the treatment of pathological conditions such as cancer and autoimmune diseases. The first chapter of this book describes the evolution of the transporting epithelium from primitive metazoans to mammalian epithelia. Then, Chapters 2, 3, 4, 5, 6 and 7 review the characteristics and functionality of difi^erent proteins of theTJ studied in cell culture models, natural epithelia, mutant mice and heritable human diseases.
235p
ladongphongthanh1008
22-04-2024
4
2
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Systems immunology has the potential to offer invaluable insights into the development of the immune system. Two recent studies offer an in-depth view of both the dynamics of immune system development and the heritability of the levels of key immune modulators at birth.
3p
vibransone
28-03-2024
6
2
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Macular telangiectasia type 2 (MacTel) is a rare, heritable and largely untreatable retinal disorder, often comorbid with diabetes. Genetic risk loci subtend retinal vascular calibre and glycine/serine/threonine metabolism genes.
11p
vibransone
28-03-2024
9
2
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Associations of low lung function with features of poor cardio-metabolic health have been reported. It is, however, unclear whether these co-morbidities reflect causal associations, shared genetic heritability or are confounded by environmental factors.
13p
vibransone
28-03-2024
5
2
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Coronary artery disease (CAD) remains the leading cause of mortality worldwide despite enormous efforts devoted to its prevention and treatment. While many genetic loci have been identified to associate with CAD, the intermediate causal risk factors and etiology have not been fully understood. This study assesses the causal effects of 37 heritable clinical factors on CAD in East Asian and European populations.
15p
viellison
28-03-2024
5
2
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Fibrodysplasia ossifcans progressiva (FOP) as a rare and heritable disorder with the infrequent genetic transmission of the condition is a catastrophic disorder of heterotopic ossifcation (HO) and a cause of extraskeletal bone formation in humans. Given the lack of effective treatment for this disease, the important point is to avoid aggravating factors such as bone biopsy, surgery, and intramuscular injection.
4p
vitiki
30-01-2024
2
2
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Part 2 book "Breed predispositions to dental and oral disease in dogs" includes content: Other heritable conditions, anesthetic management of toy and small breed dogs, brachycephalic breeds and anesthesia, periodontal therapy in small and toy breed dogs, the unique challenges of extractions in small and toy breed dogs.
96p
oursky09
12-11-2023
8
4
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Part 1 book "Breed predispositions to dental and oral disease in dogs" includes content: Conditions common in small and toy breed dogs, conditions seen in both small and brachycephalic breeds therefore small brachycephalic breeds (pug, lhasa apso, shih tzu, etc.) are even more significantly affected, the welfare concerns of heritable dental diseases, conditions commonly seen in brachycephalic breeds, brachycephalic airway disease, the unique welfare challenges of brachycephalism.
114p
oursky09
12-11-2023
3
2
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Part 2 book "Cardiac electrophysiology, from cell to bedside" includes content: Mechanisms in heritable sodium channel diseases, inheritable potassium channel disease, genetics and cellular mechanisms of the j wave syndromes, pharmacologic bases of antiarrhythmic therapy, pharmacogenomics of cardiac arrhythmias, optogenetic control of heart muscle,... and other contents.
440p
oursky06
13-10-2023
7
1
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The genetic variants identified by Genome-wide association study (GWAS) can only account for a small proportion of the total heritability for complex disease. The existence of gene-gene joint effects which contains the main effects and their co-association is one of the possible explanations for the “missing heritability” problems.
8p
vinarcissa
21-03-2023
2
1
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Over the past decades, the prevalence of type 2 diabetes mellitus (T2D) has been steadily increasing around the world. Despite large efforts devoted to better understand the genetic basis of the disease, the identified susceptibility loci can only account for a small portion of the T2D heritability.
12p
vinarcissa
21-03-2023
4
1
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The significant social and economic loss as a result of bovine tuberculosis (bTB) presents a continuous challenge to cattle industries in the UK and worldwide. However, host genetic variation in cattle susceptibility to bTB provides an opportunity to select for resistant animals and further understand the genetic mechanisms underlying disease dynamics.
10p
vinarcissa
21-03-2023
3
1
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Bipolar affective disorder (BP) is a common, highly heritable psychiatric disorder characterized by periods of depression and mania. Using dense SNP genotype data, we characterized CNVs in 388 members of an Old Order Amish Pedigree with bipolar disorder.
16p
vinarcissa
21-03-2023
3
1
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Deciphering the genetic architecture of complex traits is still a major challenge for human genetics. In most cases, genome-wide association studies have only partially explained the heritability of traits and diseases.
13p
vinarcissa
21-03-2023
3
1
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Genome-wide Association Studies (GWAS) are typically designed to identify phenotype-associated single nucleotide polymorphisms (SNPs) individually using univariate analysis methods. Though providing valuable insights into genetic risks of common diseases, the genetic variants identified by GWAS generally account for only a small proportion of the total heritability for complex diseases.
11p
vinarcissa
21-03-2023
3
1
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Hyperuricemia is associated with multiple diseases, including gout, cardiovascular disease, and renal disease. Serum urate is highly heritable, yet association studies of single nucleotide polymorphisms (SNPs) and serum uric acid explain a small fraction of the heritability.
13p
vinarcissa
21-03-2023
2
1
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Obesity is heritable. It predisposes to many diseases. The objectives of this study were to create a compendium of genes relevant to feeding behavior (FB) and/or body weight (BW) regulation; to construct and to analyze networks formed by associations between genes/proteins; and to identify the most significant genes, biological processes/pathways, and tissues/organs involved in BW regulation.
28p
vinarcissa
21-03-2023
4
1
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Levels of sex hormone-binding globulin (SHBG) and the androgen testosterone have been associated with risk of diseases throughout the lifecourse. Although both SHBG and testosterone have been shown to be highly heritable, only a fraction of that heritability has been explained by genetic studies.
11p
vihagrid
30-01-2023
11
3
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There are large individual differences in physical activity (PA) behavior as well as trainability of physical capacity. Heritability studies have shown that genes may have as much impact on exercise participation behavior as environmental factors.
11p
vihagrid
30-01-2023
7
4
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Canine elbow dysplasia (CED) is a complex developmental skeletal disorder associated with a number of pathological conditions within the cubital joint. Because CED is a heritable disease, it is important to identify and remove the affected animals from breeding.
12p
vidarwin
23-02-2022
4
1
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