Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2000-5-23
pubmed:abstractText
The luteinizing, follicle-stimulating, and thyroid-stimulating hormone receptors belong to the huge family of G-protein-coupled receptors. Identification of either activating or inactivating mutations of these receptors has led to a fundamental improvement in our understanding of glycoprotein hormone/receptor interaction. Furthermore, clinical phenotypes such as precocious puberty, follicle-stimulating hormone (FSH) insensitivity syndrome, and congenital hypthyroidism are now being explained by mutated glycoprotein hormone receptors. Since there is an ongoing worldwide search for certain clinical phenotypes that might be caused by mutations of these receptors, there is a demand for strategies and techniques that can be used to screen patients in a effective and reliable way. This article focuses, therefore, on patient selection and techniques for the detection of mutations of glycoprotein hormone receptors, and compiles useful laboratory protocols to conduct such studies.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1046-2023
pubmed:author
pubmed:copyrightInfo
Copyright 2000 Academic Press.
pubmed:issnType
Print
pubmed:volume
21
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
83-97
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:10764609-Alleles, pubmed-meshheading:10764609-Animals, pubmed-meshheading:10764609-COS Cells, pubmed-meshheading:10764609-Chromosomes, Human, Pair 14, pubmed-meshheading:10764609-Cyclic AMP, pubmed-meshheading:10764609-DNA Mutational Analysis, pubmed-meshheading:10764609-Dose-Response Relationship, Drug, pubmed-meshheading:10764609-Germ-Line Mutation, pubmed-meshheading:10764609-Humans, pubmed-meshheading:10764609-Mutation, pubmed-meshheading:10764609-Polymorphism, Restriction Fragment Length, pubmed-meshheading:10764609-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:10764609-Protein Structure, Tertiary, pubmed-meshheading:10764609-Receptors, FSH, pubmed-meshheading:10764609-Receptors, LH, pubmed-meshheading:10764609-Receptors, Thyrotropin, pubmed-meshheading:10764609-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:10764609-Signal Transduction
pubmed:year
2000
pubmed:articleTitle
Detection of mutations in glycoprotein hormone receptors.
pubmed:affiliation
Institute of Reproductive Medicine, University of Münster, Domagkstrasse 11, Münster, D-48129, Germany. gromolj@uni-muenster.de
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't