نتایج جستجو برای: biochemical genetics

تعداد نتایج: 208150  

2013
JOSEPH L. GOLDSTEIN BARBARA K. CAMPBELL STANLEY M. GARTLER

cytes as a readily available source of this enzyme, its activity has been compared in 48 control subjects, seven homozygotes affected with homocystinuria, and 17 obligate heterozygotes. PHA-induced enzyme levels were highest in controls (mean ±SEM, 666.9±170.2 pmol cystathionine formed/mg protein per 4 h), intermediate in heterozygotes (114.4±27.3), and absent to severely deficient in homozygot...

Journal: :Plant physiology 2001
D DellaPenna

Metabolic engineering is generally defined as the redirection of one or more enzymatic reactions to produce new compounds in an organism, improve the production of existing compounds, or mediate the degradation of compounds. In highlighting progress in plant metabolic engineering over the past 25 years, it is first important to stress that it is in fact quite a young science in plants. Our know...

Journal: :The Journal of pharmacology and experimental therapeutics 2012
G Patrick Hussmann Kenneth J Kellar

We have developed a new radioligand binding assay method to measure the concentration of nonradiolabeled drugs in the brain ex vivo. This new method fuses the concepts of standard competition and saturation binding assays and uses a transformed version of the Cheng-Prusoff equation (Biochem Pharmacol 22:3099-3108, 1973) to calculate the drug concentration. After testing the validity of this met...

Journal: :Molecular biology and evolution 2007
Simon Y W Ho Tim H Heupink Andrew Rambaut Beth Shapiro

DNA extracted from archaeological and paleontological remains is usually damaged by biochemical processes postmortem. Some of these processes lead to changes in the structure of the DNA molecule, which can result in the incorporation of incorrect nucleotides during polymerase chain reaction. These base misincorporations, or miscoding lesions, can lead to the inclusion of spurious additional mut...

Journal: :Nutrients 2023

Hypoglycemia is due to defects in the metabolic systems involved transition from fed fasting state or hormone control of these systems. In children, hypoglycemia considered a metabolic-endocrine emergency, because it may lead brain injury, permanent neurological sequelae and, rare cases, death. Symptoms are nonspecific, particularly infants and young children. Diagnosis based on laboratory inve...

Journal: :Genetika 2022

PPARGC1A is involved in many metabolic processes including normal mitochondrial biogenesis, oxidation of glucose and lipids transport into skeletal muscles. Previous researches linked this polymorphism with the higher risk developing type 2 diabetes, syndrome obesity. The aim study was to investigate association Gly482Ser body mass index (BMI), fasting levels lipid profile Serbian adolescents. ...

Journal: :The Yale Journal of Biology and Medicine 1980
Margretta R. Seashore

This book is part of a series called Fundamental and Clinical Aspects of Internal Medicine, a series of volumes for a postgraduate course. Short chapters cover the subjects of cytogenetics, mendelian genetics, genetic markers, multifactorial inheritance, biochemical genetics, genetics of cancer, and treatment of genetic disease. It attempts to be a fairly comprehensive resource for clinicians w...

Journal: :The Yale Journal of Biology and Medicine 1980
Duncan K. Fischer

This book is part of a series called Fundamental and Clinical Aspects of Internal Medicine, a series of volumes for a postgraduate course. Short chapters cover the subjects of cytogenetics, mendelian genetics, genetic markers, multifactorial inheritance, biochemical genetics, genetics of cancer, and treatment of genetic disease. It attempts to be a fairly comprehensive resource for clinicians w...

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