The GNAS Locus in Human Disease: Lessons from the Clinical and Genetic Variability of Pseudo-Hypoparathyroidism

2012 ◽  
Vol 44 (10) ◽  
Author(s):  
O Hiort
Keyword(s):  
Genetic Variability ◽  
Human Disease

scholarly journals Yeast as a Tool to Understand the Significance of Human Disease-Associated Gene Variants

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1303
Author(s):  
Tiziana Cervelli ◽  
Alvaro Galli
Keyword(s):  
Saccharomyces Cerevisiae ◽  
Genetic Variability ◽  
Human Disease ◽  
Human Genetics ◽  
Model Organism ◽  
Model Organisms ◽  
Gene Variants ◽  
Yeast Saccharomyces Cerevisiae ◽  
Next Generation Dna Sequencing ◽  
Sequencing Technologies

At present, the great challenge in human genetics is to provide significance to the growing amount of human disease-associated gene variants identified by next generation DNA sequencing technologies. Increasing evidences suggest that model organisms are of pivotal importance to addressing this issue. Due to its genetic tractability, the yeast Saccharomyces cerevisiae represents a valuable model organism for understanding human genetic variability. In the present review, we show how S. cerevisiae has been used to study variants of genes involved in different diseases and in different pathways, highlighting the versatility of this model organism.

Use of Protein a Conjugated to Peroxidase to Localize Immunoglobulin G in SSPE Ferret Brain

1982 ◽  
Vol 40 ◽  
pp. 350-351
Author(s):  
Hannah R. Brown ◽  
Anthony F. Nostro ◽  
Halldor Thormar
Keyword(s):  
Immunoglobulin G ◽  
Human Disease ◽  
Measles Virus ◽  
Subacute Sclerosing Panencephalitis ◽  
Protein A ◽  
Inflammatory Lesions ◽  
Sspe Virus ◽  
Specific Immunoglobulin ◽  
Antibody Titers ◽  
The Brain

Subacute sclerosing panencephalitis (SSPE) is a slowly progressing disease of the CNS in children which is caused by measles virus. Ferrets immunized with measles virus prior to inoculation with the cell associated, syncytiogenic D.R. strain of SSPE virus exhibit characteristics very similar to the human disease. Measles virus nucleocapsids are present, high measles antibody titers are found in the sera and inflammatory lesions are prominent in the brains. Measles virus specific immunoglobulin G (IgG) is present in the brain,and IgG/ albumin ratios indicate that the antibodies are synthesized within the CNS.

Spectroscopic imaging of human disease

1996 ◽  
Vol 54 ◽  
pp. 884-885
Author(s):  
D.J. Meyerhoff
Keyword(s):  
Magnetic Field ◽  
Magnetic Resonance ◽  
Field Gradient ◽  
Human Disease ◽  
Morphological Changes ◽  
Magnetic Field Gradient ◽  
Spectroscopic Imaging ◽  
Resonance Spectroscopy ◽  
Tissue Water

Magnetic Resonance Imaging (MRI) observes tissue water in the presence of a magnetic field gradient to study morphological changes such as tissue volume loss and signal hyperintensities in human disease. These changes are mostly non-specific and do not appear to be correlated with the range of severity of a certain disease. In contrast, Magnetic Resonance Spectroscopy (MRS), which measures many different chemicals and tissue metabolites in the millimolar concentration range in the absence of a magnetic field gradient, has been shown to reveal characteristic metabolite patterns which are often correlated with the severity of a disease. In-vivo MRS studies are performed on widely available MRI scanners without any “sample preparation” or invasive procedures and are therefore widely used in clinical research. Hydrogen (H) MRS and MR Spectroscopic Imaging (MRSI, conceptionally a combination of MRI and MRS) measure N-acetylaspartate (a putative marker of neurons), creatine-containing metabolites (involved in energy processes in the cell), choline-containing metabolites (involved in membrane metabolism and, possibly, inflammatory processes),

Role of genetic variability in the renin-angiotensin system in diabetic and nondiabetic renal disease

2001 ◽  
Vol 21 (6) ◽  
pp. 580-592 ◽  
Author(s):  
Arnold Boonstra ◽  
Dick de Zeeuw ◽  
Paul E. de Jong ◽  
Gerjan Navis
Keyword(s):  
Genetic Variability ◽  
Renal Disease ◽  
Renin Angiotensin System ◽  
Angiotensin System ◽  
Renin Angiotensin

Alpha-dystroglycanopathies: Clinical and genetic variability

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
H Trippe ◽  
S Lutz ◽  
A Della Marina ◽  
U Hehr ◽  
W Kress ◽  
...  
Keyword(s):  
Genetic Variability

Model Characterization of Pulmonary Arterial Hypertension: Analysis of Lung Pathology with Respect to Human Disease

2020 ◽  
Author(s):  
◽  
Eptisam lambu
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Human Disease ◽  
Vascular Remodeling ◽  
Vascular Wall ◽  
Lung Pathology ◽  
Pulmonary Arterial ◽  
Lung Pathogenesis ◽  
Arterial Endothelial Cells

Pulmonary arterial hypertension (PAH) is a rare multifactorial disease characterized by abnormal high blood pressure in the pulmonary artery, or increased pulmonary vascular resistance (PVR), caused by obstruction in the small arteries of the lung. Increased PVR is also thought to be caused by abnormal vascular remodeling, due to thickening of the pulmonary vascular wall resulting from significant hypertrophy of pulmonary arterial smooth-muscle cells (PASMCs) and increased proliferation/impaired apoptosis of pulmonary arterial endothelial cells (PAECs). Herein, we investigated the mechanisms and explored molecular pathways mediating the lung pathogenesis in two PAH rat models: Monocrotaline (MCT) and Sugen5416/Hypoxia (SuHx). We analyzed these disease models to determine where the vasculature shows the most severe PAH pathology and which model best recapitulates the human disease. We investigated the role vascular remodeling, hypoxia, cell proliferation, apoptosis, DNA damage and inflammation play in the pathogenesis of PAH. Neither model recapitulated all features of the human disease, however each model presented with some of the pathology seen in PAH patients.

PROFILING OF GUAVA GENOTYPES GROWN IN VIDARBHA CONDITIONS ON THE BASIS OF MORPHOLOGICAL TRAITS

2017 ◽  
Vol 23 (1) ◽  
Author(s):  
R.A. PATIL ◽  
S.G. BHARAD ◽  
S.N. SAWANT
Keyword(s):  
Genetic Diversity ◽  
Genetic Variability ◽  
Morphological Traits ◽  
Considerable Extent ◽  
Fruit Traits ◽  
Breeding Programmes ◽  
Tree Leaf ◽  
Qualitative Characteristics ◽  
Intrapopulation Diversity

Assessment of genetic diversity in the available germplasm is the prerequisite for development of improved genotypes through planned breeding programmes. In the view of this Forty-eight genotypes of seedling origin guava along with 1 check (L-49/Sardar) collected and conserved at germplasm block, Main Garden, Department of Horticulture, Dr. P. D. A. University, Akola were evaluated for genetic variability and diversity based on the qualitative characteristics. The genotypes were evaluated for sixteen morphological traitsviz. tree, leaf, floral and fruit traits. Results Show considerable extent of variability amongst the 49 genotypes in each traits. A sizeable amount of intrapopulation diversity recorded can be used to identify diverse parents which can be utilized in hybridization programmes.

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