scholarly journals Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.

1993 ◽  
Vol 101 (1) ◽  
pp. 68-74 ◽  
Author(s):  
K Burkhart-Schultz ◽  
C B Thomas ◽  
C L Thompson ◽  
C L Strout ◽  
E Brinson ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
Control Population ◽  
Hypoxanthine Phosphoribosyltransferase ◽  
Human Control

scholarly journals A high-fidelity method for genomic sequencing of single somatic cells reveals a very high mutational burden

2017 ◽  
Vol 242 (13) ◽  
pp. 1318-1324 ◽  
Author(s):  
Jan Vijg ◽  
Xiao Dong ◽  
Lei Zhang
Keyword(s):  
Single Cell ◽  
Somatic Mutations ◽  
Somatic Cells ◽  
Whole Genome ◽  
Tissue Samples ◽  
Amplification System ◽  
Functional Consequences ◽  
Postzygotic Mutations

Postzygotic mutations in somatic cells lead to genome mosaicism and can be the cause of cancer, possibly other human diseases and aging. Somatic mutations are difficult to detect in bulk tissue samples. Here, we review the available assays for measuring somatic mutations, with a focus on recent single-cell, whole genome sequencing methods. Impact statement Somatic mutations cause cancer, possibly other diseases and aging. Yet, very little is known about the frequency of such mutations in vivo, their distribution across the genome, and their possible functional consequences other than cancer. Even in cancer, we do not know the heterogeneity of mutations within a tumor and if seemingly normal cells in its surroundings already have elevated mutation frequencies. Here, we review a new, whole genome amplification system that allows accurate quantification and characterization of single-cell mutational landscapes in human cells and tissues in relation to disease.

scholarly journals Molecular characterization of 15 rearrangements among 90 human in vivo somatic mutants shows that deletions predominate.

1987 ◽  
Vol 7 (2) ◽  
pp. 956-960 ◽  
Author(s):  
W E Bradley ◽  
J L Gareau ◽  
A M Seifert ◽  
K Messing
Keyword(s):  
Ionizing Radiation ◽  
Molecular Characterization ◽  
Southern Analysis ◽  
Hypoxanthine Phosphoribosyltransferase ◽  
Low Doses

Ninety hypoxanthine phosphoribosyltransferase-deficient mutants were isolated from lymphocytes of 31 individuals drawn from both control populations and populations exposed to low doses of ionizing radiation. Southern analysis of the DNA revealed altered hybridization patterns in 15 mutants. Of these, 14 changes consisted of deletions of 2 to 40 kilobases or more.

Molecular characterization of 15 rearrangements among 90 human in vivo somatic mutants shows that deletions predominate

1987 ◽  
Vol 7 (2) ◽  
pp. 956-960
Author(s):  
W E Bradley ◽  
J L Gareau ◽  
A M Seifert ◽  
K Messing
Keyword(s):  
Ionizing Radiation ◽  
Molecular Characterization ◽  
Southern Analysis ◽  
Hypoxanthine Phosphoribosyltransferase ◽  
Low Doses

Ninety hypoxanthine phosphoribosyltransferase-deficient mutants were isolated from lymphocytes of 31 individuals drawn from both control populations and populations exposed to low doses of ionizing radiation. Southern analysis of the DNA revealed altered hybridization patterns in 15 mutants. Of these, 14 changes consisted of deletions of 2 to 40 kilobases or more.

Functional characterization of human brown adipose tissue metabolism

2020 ◽  
Vol 477 (7) ◽  
pp. 1261-1286 ◽  
Author(s):  
Marie Anne Richard ◽  
Hannah Pallubinsky ◽  
Denis P. Blondin
Keyword(s):  
Adipose Tissue ◽  
Brown Adipose Tissue ◽  
Functional Characterization ◽  
Human Infants ◽  
Positron Emission ◽  
Brown Adipose ◽  
Treatment Of Obesity ◽  
And Function

Brown adipose tissue (BAT) has long been described according to its histological features as a multilocular, lipid-containing tissue, light brown in color, that is also responsive to the cold and found especially in hibernating mammals and human infants. Its presence in both hibernators and human infants, combined with its function as a heat-generating organ, raised many questions about its role in humans. Early characterizations of the tissue in humans focused on its progressive atrophy with age and its apparent importance for cold-exposed workers. However, the use of positron emission tomography (PET) with the glucose tracer [18F]fluorodeoxyglucose ([18F]FDG) made it possible to begin characterizing the possible function of BAT in adult humans, and whether it could play a role in the prevention or treatment of obesity and type 2 diabetes (T2D). This review focuses on the in vivo functional characterization of human BAT, the methodological approaches applied to examine these features and addresses critical gaps that remain in moving the field forward. Specifically, we describe the anatomical and biomolecular features of human BAT, the modalities and applications of non-invasive tools such as PET and magnetic resonance imaging coupled with spectroscopy (MRI/MRS) to study BAT morphology and function in vivo, and finally describe the functional characteristics of human BAT that have only been possible through the development and application of such tools.

Comparison of Immunological and Functional Assays for Measurement of Soluble Fibrin

1995 ◽  
Vol 74 (02) ◽  
pp. 673-679 ◽  
Author(s):  
C E Dempfle ◽  
S A Pfitzner ◽  
M Dollman ◽  
K Huck ◽  
G Stehle ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Low Grade ◽  
Plasma Samples ◽  
Normal Range ◽  
Soluble Fibrin ◽  
Discriminating Power ◽  
Fibrin Monomer ◽  
Cerebral Ischemic

SummaryVarious assays have been developed for quantitation of soluble fibrin or fibrin monomer in clinical plasma samples, since this parameter directly reflects in vivo thrombin action on fibrinogen. Using plasma samples from healthy blood donors, patients with cerebral ischemic insult, patients with septicemia, and patients with venous thrombosis, we compared two immunologic tests using monoclonal antibodies against fibrin-specific neo-epitopes, and two functional tests based on the cofactor activity of soluble fibrin complexes in tPA-induced plasminogen activation. Test A (Enzymun®-Test FM) showed the best discriminating power among normal range and pathological samples. Test B (Fibrinostika® soluble fibrin) clearly separated normal range from pathological samples, but failed to discriminate among samples from patients with low grade coagulation activation in septicemia, and massive activation in venous thrombosis. Functional test C (Fibrin monomer test Behring) displayed good discriminating power between normal and pathological range samples, and correlated with test A (r = 0.61), whereas assay D (Coa-Set® Fibrin monomer) showed little discriminating power at values below 10 μg/ml and little correlation with other assays. Standardization of assays will require further characterization of analytes detected.

Insulinomimetic properties of trace elements and characterization of their in vivo mode of action

Diabetes ◽  
1990 ◽  
Vol 39 (10) ◽  
pp. 1243-1250 ◽  
Author(s):  
L. Rossetti ◽  
A. Giaccari ◽  
E. Klein-Robbenhaar ◽  
L. R. Vogel
Keyword(s):  
Trace Elements ◽  
Mode Of Action
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