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  • 1
    Electronic Resource
    Electronic Resource
    Human hexokinase II: localization of the polymorphic gene to chromosome 2 (1993)
    Springer
    Diabetologia 36 (1993), S. 1299-1302 
    Details
    ISSN: 1432-0428
    Keywords: Genetics ; DNA polymorphism ; glucose ; phosphorylation ; glycolysis ; chromosome 2 ; insulin resistance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Type 2 (non-insulin-dependent) diabetes mellitus is characterized by decreased levels of glucose 6-phosphate in skeletal muscle. It has been suggested that the lower concentrations of glucose 6-phosphate contribute to the defect in glucose metabolism noted in muscle tissue of subjects with Type 2 diabetes or subjects at increased risk of developing Type 2 diabetes. Lower levels of glucose 6-phosphate could be due to a defect in glucose uptake, or phosphorylation, or both. Hexokinase II is the isozyme of hexokinase that is expressed in skeletal muscle and is responsible for catalysing the phosphorylation of glucose in this tissue. The recent demonstration that mutations in another member of this family of glucose phosphorylating enzymes, glucokinase, can lead to the development of Type 2 diabetes prompted us to begin to examine the possible role of hexokinase II in the development of this genetically heterogeneous disorder. As a first step, we have cloned the human hexokinase II gene (HK2) and mapped it to human chromosome 2, band p13.1, by fluorescence in situ hybridization to metaphase chromosomes. In addition, we have identified and characterized a simple tandem repeat DNA polymorphism in HK2 and used this DNA polymorphism to localize this gene within the genetic linkage map of chromosome 2.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00400809
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    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase (1995)
    Springer
    Diabetologia 38 (1995), S. 1055-1060 
    Details
    ISSN: 1432-0428
    Keywords: Key words Maturity-onset diabetes of the young ; glucokinase ; adenosine deaminase ; pituitary adenylate cyclase-activation polypeptide receptor ; hexokinase II ; glucagon-like peptide-1 receptor ; polymerase chain reaction ; linkage analysis.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Maturity-onset diabetes of the young (MODY) is a form of non-insulin-dependent diabetes mellitus characterised by an early age of onset and an autosomal dominant mode of inheritance. Only a proportion of cases are due to mutations in the glucokinase gene. We have studied five Caucasian MODY families, including the first MODY family to be described, with five candidate genes implicated in regulation of insulin secretion. The affected subjects showed more marked hyperglycaemia than that found in subjects with glucokinase mutations. We assessed polymorphic markers close to the genes for glucokinase, hexokinase II, adenosine deaminase, pituitary adenylate cyclase-activating polypeptide receptor, and glucagon-like peptide-1 receptor. Linkage analysis with diabetes gave cumulative log of the odds (LOD) scores of less than –3, implying that mutations in these genes are unlikely to provide a major genetic contribution to this form of MODY. [Diabetologia (1995) 38: 1055–1060]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00402175
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Human insulin receptor substrate-1 gene (IRS1): chromosomal localization to 2q35-q36.1 and identification of a simple tandem repeat DNA polymorphism (1993)
    Springer
    Diabetologia 36 (1993), S. 335-337 
    Details
    ISSN: 1432-0428
    Keywords: DNA polymorphism ; genetics ; chromosome 2
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The protein designated as insulin receptor substrate-1 (IRS-1) is a major substrate for the insulin receptor tyrosine kinase. Since post-receptor defects in the insulin signalling pathway are a common feature of Type 2 (non-insulin-dependent) diabetes mellitus, we have cloned the human IRS-1 gene in order to study the role of genetic variation in this gene in the pathogenesis of diabetes mellitus. As a first step in these studies, we have mapped the IRS-1 gene to chromosome 2, bands q35–q36.1 and identified a simple tandem repeat DNA polymorphism in this gene that will be useful for genetic studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00400237
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Non-linkage of the glucagon-like peptide 1 receptor gene with maturity onset diabetes of the young (1994)
    Springer
    Diabetologia 37 (1994), S. 721-724 
    Details
    ISSN: 1432-0428
    Keywords: Glucagon-like peptide-1 receptor ; non-insulin-dependent diabetes mellitus ; maturity onset diabetes of the young ; polymerase chain reaction ; linkage analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Glucagon-like peptide-1 (GLP-1) is a hormone derived from the preproglucagon molecule that is secreted by intestinal L cells and stimulates insulin secretion from betacells. The GLP-1 receptor is a candidate gene for diabetes mellitus, as mutations may induce the impaired insulin response that is a characteristic feature of NIDDM. To study the relationship between the GLP-1 receptor gene and NIDDM, linkage of a microsatellite polymorphism flanking the GLP-1 receptor gene with diabetes was investigated in three Caucasian families with MODY and in the nuclear families of 12 NIDDM probands. A cumulative LOD score −8.50 excludes linkage in these MODY pedigrees. A LOD score of −1.24 in the NIDDM nuclear pedigrees makes linkage improbable. Mutations in or near the GLP-1 receptor gene are unlikely to be the major cause of the inherited predisposition to NIDDM in Caucasian pedigrees, but we cannot exclude a role for this locus in a polygenic model or a major role in some pedigrees.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00417698
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Characterization of a third simple tandem repeat polymorphism in the human glucokinase gene (1993)
    Springer
    Diabetologia 36 (1993), S. 170-171 
    Details
    ISSN: 1432-0428
    Keywords: DNA polymorphism ; genetics ; chromosome 7
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Recent studies have implicated mutations in the glucokinase gene as a cause of early-onset Type 2 (non-insulin-dependent) diabetes mellitus. Two simple tandem repeat DNA polymorphisms have been identified in this gene and used for genetic studies. However, their heterozygosity is relatively low and not all families are informative for linkage with these markers. Here we report the characterization of a third simple tandem repeat polymorphism that can be used for genetic studies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00400700
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    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Human pancreatic Beta-cell glucokinase: cDNA sequence and localization of the polymorphic gene to chromosome 7, band p 13 (1992)
    Springer
    Diabetologia 35 (1992), S. 743-747 
    Details
    ISSN: 1432-0428
    Keywords: Glucokinase ; polymerase chain reaction ; micro satellite DNA polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The glucose phosphorylating enzyme glucokinase plays an important role in the regulation of glucose homeostasis. Studies in rodents indicate that pancreatic Beta cells and hepatocytes express different isoforms of this protein as a consequence of the presence of tissue-specific promoters and exon 1 sequences which are spliced to a shared group of nine exons which encode most of the mRNA and protein. Here, we report the isolation and characterization of cDNA clones encoding human Beta-cell glucokinase. The sequence of human Beta-cell glucokinase shows 97% amino acid identity with that of the cognate rat protein. We also mapped the human glucokinase gene to the short arm of chromosome 7 by analysing its segregation in a panel of reduced human mouse somatic cell hybrids. In situ hybridization to metaphase chromosomes confirmed the localization of the human glucokinase gene to chromosome 7 and indicated that it was in band p 13. A microsatellite DNA polymorphism that can be typed using the polymerase chain reaction was identified upstream of exon 1 a, the Beta-cell specific first exon. The glucokinase cDNA clone and highly informative DNA polymorphism will be useful for examining the role of this gene in the pathogenesis of diabetes mellitus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00429094
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    Paper (German National Licenses)
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  • 7
    Electronic Resource
    Electronic Resource
    Non-linkage of the glucagon-like peptide 1 receptor gene with maturity onset diabetes of the young (1994)
    Springer
    Diabetologia 37 (1994), S. 721-724 
    Details
    ISSN: 1432-0428
    Keywords: Key words Glucagon-like peptide-1 receptor, non-insulin-dependent diabetes mellitus, maturity onset diabetes of the young, polymerase chain reaction, linkage analysis.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Glucagon-like peptide-1 (GLP-1) is a hormone derived from the preproglucagon molecule that is secreted by intestinal L cells and stimulates insulin secretion from betacells. The GLP-1 receptor is a candidate gene for diabetes mellitus, as mutations may induce the impaired insulin response that is a characteristic feature of NIDDM. To study the relationship between the GLP-1 receptor gene and NIDDM, linkage of a microsatellite polymorphism flanking the GLP-1 receptor gene with diabetes was investigated in three Caucasian families with MODY and in the nuclear families of 12 NIDDM probands. A cumulative LOD score −8.50 excludes linkage in these MODY pedigrees. A LOD score of −1.24 in the NIDDM nuclear pedigrees makes linkage improbable. Mutations in or near the GLP-1 receptor gene are unlikely to be the major cause of the inherited predisposition to NIDDM in Caucasian pedigrees, but we cannot exclude a role for this locus in a polygenic model or a major role in some pedigrees. [Diabetologia (1994) 37: 721–724]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00417698
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 8
    Electronic Resource
    Electronic Resource
    Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase (1995)
    Springer
    Diabetologia 38 (1995), S. 1055-1060 
    Details
    ISSN: 1432-0428
    Keywords: Maturity-onset diabetes of the young ; glucokinase ; adenosine deaminase ; pituitary adenylate cyclase-activation polypeptide receptor ; hexokinase II ; glucagon-like peptide-1 receptor ; polymerase chain reaction ; linkage analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Maturity-onset diabetes of the young (MODY) is a form of non-insulin-dependent diabetes mellitus characterised by an early age of onset and an autosomal dominant mode of inheritance. Only a proportion of cases are due to mutations in the glucokinase gene. We have studied five Caucasian MODY families, including the first MODY family to be described, with five candidate genes implicated in regulation of insulin secretion. The affected subjects showed more marked hyperglycaemia than that found in subjects with glucokinase mutations. We assessed polymorphic markers close to the genes for glucokinase, hexokinase II, adenosine deaminase, pituitary adenylate cyclase-activating polypeptide receptor, and glucagon-like peptide-1 receptor. Linkage analysis with diabetes gave cumulative log of the odds (LOD) scores of less than -3, implying that mutations in these genes are unlikely to provide a major genetic contribution to this form of MODY.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00402175
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
  • 9
    Electronic Resource
    Electronic Resource
    The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 113-115 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The gene encoding the human mitochondrial citrate transporter designated SLC20A3 was mapped to chromosome 22 by analyzing its segregation in a panel of human-hamster somatic cell hybrids. This assignment was confirmed by fluorescence in situ hybridization to metaphase chromosomes, and the gene was further localized to band 22q11.21. The gene is located in a critical region associated with allelic losses in a variety of clinical syndromes, including DiGeorge syndrome, velo-cardio-facial syndrome and a subtype of schizophrenia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050169
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    Paper (German National Licenses)
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  • 10
    Electronic Resource
    Electronic Resource
    Human Type I Pituitary Adenylate Cyclase Activating Polypeptide Receptor (ADCYAP1R): Localization to Chromosome Band 7p14 and Integration into the Cytogenetic, Physical, and Genetic Map of Chromosome 7
    Amsterdam : Elsevier
    Genomics 23 (1994), S. 697-699 
    Details
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1006/geno.1994.1560
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    Paper (German National Licenses)
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