Graeme Bell to Humans
This is a "connection" page, showing publications Graeme Bell has written about Humans.
Connection Strength
0.767
-
Three Strikes and You're Cured. Sci Transl Med. 2012 May 09; 4(133):133fs12.
Score: 0.014
-
Intrapancreatic delivery of human umbilical cord blood aldehyde dehydrogenase-producing cells promotes islet regeneration. Diabetologia. 2012 Jun; 55(6):1755-60.
Score: 0.014
-
Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. Curr Diab Rep. 2011 Dec; 11(6):519-32.
Score: 0.014
-
MODY: history, genetics, pathophysiology, and clinical decision making. Diabetes Care. 2011 Aug; 34(8):1878-84.
Score: 0.013
-
Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted. Biochem Biophys Res Commun. 2010 Jan 15; 391(3):1449-54.
Score: 0.012
-
Sustained expression of hepatocyte nuclear factor-6 leads to loss of pancreatic beta-cells by apoptosis. Exp Clin Endocrinol Diabetes. 2007 Nov; 115(10):654-61.
Score: 0.010
-
Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A). Diabetologia. 2007 Dec; 50(12):2600-1.
Score: 0.010
-
Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetologia. 2006 May; 49(5):1106-8.
Score: 0.009
-
Subcellular recruitment by TSG118 and TSPYL implicates a role for zinc finger protein 106 in a novel developmental pathway. Int J Biochem Cell Biol. 2005 Jul; 37(7):1421-37.
Score: 0.009
-
Gene symbol: IPF1. Disease: MODY 4. Hum Genet. 2005 May; 116(6):538.
Score: 0.009
-
Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population. J Hum Genet. 2005; 50(2):92-98.
Score: 0.009
-
Dual promoter structure of ZFP106: regulation by myogenin and nuclear respiratory factor-1. Gene. 2005 Jan 03; 344:143-59.
Score: 0.008
-
Remifentanil vs fentanyl/morphine for pain and stress control during pediatric cardiac surgery. Paediatr Anaesth. 2004 Oct; 14(10):856-60.
Score: 0.008
-
Linkage of calpain 10 to type 2 diabetes: the biological rationale. Diabetes. 2004 Feb; 53 Suppl 1:S19-25.
Score: 0.008
-
Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family. J Clin Endocrinol Metab. 2004 Feb; 89(2):971-8.
Score: 0.008
-
Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2002 Sep; 87(9):4297-300.
Score: 0.007
-
Diabetes mellitus and genetically programmed defects in beta-cell function. Nature. 2001 Dec 13; 414(6865):788-91.
Score: 0.007
-
In celebration of a century with insulin - Update of insulin gene mutations in diabetes. Mol Metab. 2021 10; 52:101280.
Score: 0.007
-
Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects. Diabetes. 2001 Mar; 50(3):694-6.
Score: 0.007
-
Identification of three missense mutations in the peroxisome proliferator-activated receptor alpha gene in Japanese subjects with maturity-onset diabetes of the young. J Hum Genet. 2001; 46(5):285-8.
Score: 0.006
-
beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY. Diabetes. 2000 Nov; 49(11):1955-7.
Score: 0.006
-
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet. 2000 Oct; 26(2):163-75.
Score: 0.006
-
No diabetes-associated mutations in the coding region of the hepatocyte nuclear factor-4gamma gene (HNF4G) in Japanese patients with MODY. Diabetologia. 2000 Aug; 43(8):1064-9.
Score: 0.006
-
A simple test for the high-frequency P291fsinsC mutation in the HNF1 alpha/MODY3 gene. Diabetologia. 2000 Jun; 43(6):818-9.
Score: 0.006
-
Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3beta gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young. Diabetes. 2000 Feb; 49(2):302-5.
Score: 0.006
-
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature. 2019 06; 570(7759):71-76.
Score: 0.006
-
Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Hum Mol Genet. 2019 04 01; 28(7):1212-1224.
Score: 0.006
-
A One Health investigation of Salmonella enterica serovar Wangata in north-eastern New South Wales, Australia, 2016-2017. Epidemiol Infect. 2019 01; 147:e150.
Score: 0.006
-
Deep tubewell microbial water quality and access in arsenic mitigation programs in rural Bangladesh. Sci Total Environ. 2019 Apr 01; 659:1577-1584.
Score: 0.006
-
Femtosecond laser desorption ionization mass spectrometry imaging and multivariate analysis of lipids in pancreatic tissue. Biointerphases. 2018 04 02; 13(3):03B416.
Score: 0.005
-
Multiethnic Meta-Analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea-related Quantitative Trait Locus in Men. Am J Respir Cell Mol Biol. 2018 03; 58(3):391-401.
Score: 0.005
-
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees. Proc Natl Acad Sci U S A. 2018 01 09; 115(2):379-384.
Score: 0.005
-
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data. 2017 12 19; 4:170179.
Score: 0.005
-
Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene. J Clin Invest. 1997 Sep 15; 100(6):1400-5.
Score: 0.005
-
Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes. 1997 Sep; 46(9):1504-8.
Score: 0.005
-
A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes. Diabetes. 2017 11; 66(11):2903-2914.
Score: 0.005
-
In vivo measurement and biological characterisation of the diabetes-associated mutant insulin p.R46Q (GlnB22-insulin). Diabetologia. 2017 08; 60(8):1423-1431.
Score: 0.005
-
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes. 2017 07; 66(7):2019-2032.
Score: 0.005
-
Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes. 1997 Mar; 46(3):528-35.
Score: 0.005
-
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) Nature. 1996 Dec 05; 384(6608):455-8.
Score: 0.005
-
Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) Nature. 1996 Dec 05; 384(6608):458-60.
Score: 0.005
-
Sequence of human hexokinase III cDNA and assignment of the human hexokinase III gene (HK3) to chromosome band 5q35.2 by fluorescence in situ hybridization. Genomics. 1996 Aug 15; 36(1):206-9.
Score: 0.005
-
The genetic architecture of type 2 diabetes. Nature. 2016 08 04; 536(7614):41-47.
Score: 0.005
-
Beyond type 2 diabetes, obesity and hypertension: an axis including sleep apnea, left ventricular hypertrophy, endothelial dysfunction, and aortic stiffness among Mexican Americans in Starr County, Texas. Cardiovasc Diabetol. 2016 Jun 08; 15:86.
Score: 0.005
-
Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle. Diabetologia. 1996 Jun; 39(6):725-30.
Score: 0.005
-
A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene. Proc Natl Acad Sci U S A. 1996 Apr 30; 93(9):3937-41.
Score: 0.005
-
Seminars in Medicine of the Beth Israel Hospital, Boston. Non-insulin-dependent diabetes mellitus - a genetically programmed failure of the beta cell to compensate for insulin resistance. N Engl J Med. 1996 Mar 21; 334(12):777-83.
Score: 0.005
-
Evolution of simple sequence repeats. Comput Chem. 1996 Mar; 20(1):41-8.
Score: 0.005
-
Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms. Hum Mol Genet. 2016 05 15; 25(10):2070-2081.
Score: 0.005
-
Resting beta-cells - A functional reserve? Diabetes Metab. 2016 Jun; 42(3):157-61.
Score: 0.005
-
Glucokinase mutations, insulin secretion, and diabetes mellitus. Annu Rev Physiol. 1996; 58:171-86.
Score: 0.005
-
Genome-Wide Association Study of Staphylococcus aureus Carriage in a Community-Based Sample of Mexican-Americans in Starr County, Texas. PLoS One. 2015; 10(11):e0142130.
Score: 0.005
-
Chromosomal assignment and tissue distribution of novel expressed sequence tags from a human pancreatic islet cDNA library. Genomics. 1995 Sep 01; 29(1):276-81.
Score: 0.004
-
Assignment of the gastric inhibitory polypeptide receptor gene (GIPR) to chromosome bands 19q13.2-q13.3 by fluorescence in situ hybridization. Genomics. 1995 Aug 10; 28(3):607-9.
Score: 0.004
-
Molecular biology of somatostatin receptors. Endocr Rev. 1995 Aug; 16(4):427-42.
Score: 0.004
-
Localization of human homeodomain transcription factor insulin promoter factor 1 (IPF1) to chromosome band 13q12.1. Genomics. 1995 Jul 01; 28(1):125-6.
Score: 0.004
-
Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism. J Med Genet. 2015 Sep; 52(9):612-6.
Score: 0.004
-
Cloning of rat and mouse P2Y purinoceptors. Biochem Biophys Res Commun. 1995 Jun 06; 211(1):211-8.
Score: 0.004
-
Localization of human somatostatin receptor 5 gene (SSTR5) to chromosome band 16p13.3 by fluorescence in situ hybridization. Genomics. 1995 Apr 10; 26(3):638-9.
Score: 0.004
-
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus. PLoS Genet. 2015 Jan; 11(1):e1004876.
Score: 0.004
-
Molecular biology of somatostatin receptors. Ciba Found Symp. 1995; 190:65-79; discussion 80-8.
Score: 0.004
-
The population association of glucokinase gene with type 2 (noninsulin-dependent) diabetes mellitus in Chinese. Chin Med J (Engl). 1995 Jan; 108(1):5-9.
Score: 0.004
-
Localization of the genes encoding two transcription factors, LMX1 and CDX3, regulating insulin gene expression to human chromosomes 1 and 13. Genomics. 1994 Nov 15; 24(2):403-4.
Score: 0.004
-
Evidence of non-pancreatic beta cell-dependent roles of Tcf7l2 in the regulation of glucose metabolism in mice. Hum Mol Genet. 2015 Mar 15; 24(6):1646-54.
Score: 0.004
-
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. Genomics. 1994 Oct; 23(3):697-9.
Score: 0.004
-
Glucokinase: structural analysis of a protein involved in susceptibility to diabetes. J Biol Chem. 1994 Sep 02; 269(35):21925-8.
Score: 0.004
-
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population. JAMA. 2014 Jun 11; 311(22):2305-14.
Score: 0.004
-
Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism. Genomics. 1994 May 01; 21(1):254-6.
Score: 0.004
-
Localization of the glucagon receptor gene to human chromosome band 17q25. Genomics. 1994 Mar 15; 20(2):327-8.
Score: 0.004
-
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet. 2014 Mar; 46(3):234-44.
Score: 0.004
-
Dinucleotide repeat polymorphism at D9S328E (EST hbc220). Hum Mol Genet. 1994 Feb; 3(2):387.
Score: 0.004
-
Localization of the kappa opioid receptor gene to human chromosome band 8q11.2. Genomics. 1994 Feb; 19(3):596-7.
Score: 0.004
-
Molecular biology of opioid receptors. Trends Neurosci. 1993 Dec; 16(12):506-10.
Score: 0.004
-
Human hexokinase II: localization of the polymorphic gene to chromosome 2. Diabetologia. 1993 Dec; 36(12):1299-302.
Score: 0.004
-
Genetic complexity in a Drosophila model of diabetes-associated misfolded human proinsulin. Genetics. 2014 Feb; 196(2):539-55.
Score: 0.004
-
Effect of genetic variation in a Drosophila model of diabetes-associated misfolded human proinsulin. Genetics. 2014 Feb; 196(2):557-67.
Score: 0.004
-
A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones. Hum Mol Genet. 1993 Nov; 2(11):1793-8.
Score: 0.004
-
Dinucleotide repeat polymorphism in the NEC2 gene. Hum Mol Genet. 1993 Nov; 2(11):1983.
Score: 0.004
-
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. Pediatr Diabetes. 2014 May; 15(3):252-6.
Score: 0.004
-
Structure and function of mammalian facilitative sugar transporters. J Biol Chem. 1993 Sep 15; 268(26):19161-4.
Score: 0.004
-
Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications. Diabetes Care. 2014; 37(1):202-9.
Score: 0.004
-
Human somatostatin receptor genes: localization of SSTR5 to human chromosome 20p11.2. Genomics. 1993 Sep; 17(3):785-6.
Score: 0.004
-
Human glucagon-like peptide-1 receptor gene. Localization to chromosome band 6p21 by fluorescence in situ hybridization and linkage of a highly polymorphic simple tandem repeat DNA polymorphism to other markers on chromosome 6. Diabetes. 1993 Aug; 42(8):1215-8.
Score: 0.004
-
Identification of a simple tandem repeat DNA polymorphism in the human glycogen synthase gene and linkage to five markers on chromosome 19q. Diabetes. 1993 Jun; 42(6):930-2.
Score: 0.004
-
Organization of the human GLUT2 (pancreatic beta-cell and hepatocyte) glucose transporter gene. Diabetes. 1993 May; 42(5):773-7.
Score: 0.004
-
Human insulin receptor substrate-1 gene (IRS1): chromosomal localization to 2q35-q36.1 and identification of a simple tandem repeat DNA polymorphism. Diabetologia. 1993 Apr; 36(4):335-7.
Score: 0.004
-
Human somatostatin receptor genes: localization to human chromosomes 14, 17, and 22 and identification of simple tandem repeat polymorphisms. Genomics. 1993 Feb; 15(2):449-52.
Score: 0.004
-
Assignment of the gene encoding glycogen synthase (GYS) to human chromosome 19, band q13.3. Genomics. 1993 Feb; 15(2):460-1.
Score: 0.004
-
Assignment of human potassium channel gene KCNA4 (Kv1.4, PCN2) to chromosome 11q13.4-->q14.1. Genomics. 1993 Feb; 15(2):463-4.
Score: 0.004
-
Characterization of a third simple tandem repeat polymorphism in the human glucokinase gene. Diabetologia. 1993 Feb; 36(2):170-1.
Score: 0.004
-
Molecular biology of somatostatin receptors. Trends Neurosci. 1993 Jan; 16(1):34-8.
Score: 0.004
-
cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young. Hum Mol Genet. 1993 Jan; 2(1):1-4.
Score: 0.004
-
Dinucleotide repeat polymorphism at the human ribophorin II locus (RPN2) on chromosome 20q. Hum Mol Genet. 1992 Nov; 1(8):656.
Score: 0.004
-
Human GLUT4/muscle-fat glucose-transporter gene. Characterization and genetic variation. Diabetes. 1992 Nov; 41(11):1436-45.
Score: 0.004
-
Mammalian facilitative glucose transporters: evidence for similar substrate recognition sites in functionally monomeric proteins. Biochemistry. 1992 Oct 27; 31(42):10414-20.
Score: 0.004
-
In vitro scan for enhancers at the TCF7L2 locus. Diabetologia. 2013 Jan; 56(1):121-5.
Score: 0.004
-
Human Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissues. Nucleic Acids Res. 1992 Sep 11; 20(17):4613-20.
Score: 0.004
-
Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3. Genomics. 1992 Aug; 13(4):1375-7.
Score: 0.004
-
Exome sequencing and genetic testing for MODY. PLoS One. 2012; 7(5):e38050.
Score: 0.004
-
Mapping diabetes-susceptibility genes. Lessons learned from search for DNA marker for maturity-onset diabetes of the young. Diabetes. 1992 Apr; 41(4):401-7.
Score: 0.004
-
Microsatellite polymorphism in the human platelet glycoprotein IIIa gene (GP3A) on chromosome 17. Nucleic Acids Res. 1992 Mar 11; 20(5):1172.
Score: 0.003
-
Association of the KCNJ11 variant E23K with type 2 diabetes in Indo-Trinidadians. West Indian Med J. 2011 Dec; 60(6):604-7.
Score: 0.003
-
Alterations in TCF7L2 expression define its role as a key regulator of glucose metabolism. Genome Res. 2011 Sep; 21(9):1417-25.
Score: 0.003
-
Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals. Diabetologia. 2011 Aug; 54(8):2047-55.
Score: 0.003
-
Onset features and subsequent clinical evolution of childhood diabetes over several years. Pediatr Diabetes. 2011 Jun; 12(4 Pt 1):326-34.
Score: 0.003
-
HLA-DQ haplotypes differ by ethnicity in patients with childhood-onset diabetes. Pediatr Diabetes. 2011 Jun; 12(4 Pt 2):388-95.
Score: 0.003
-
The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes. Diabetes Care. 2011 Mar; 34(3):622-7.
Score: 0.003
-
Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. Rev Endocr Metab Disord. 2010 Sep; 11(3):205-15.
Score: 0.003
-
Neonatal diabetes mellitus: a model for personalized medicine. Trends Endocrinol Metab. 2010 Aug; 21(8):464-72.
Score: 0.003
-
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. Transl Res. 2010 Jul; 156(1):7-14.
Score: 0.003
-
Update in neonatal diabetes. Curr Opin Endocrinol Diabetes Obes. 2010 Feb; 17(1):13-9.
Score: 0.003
-
In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes. Am J Physiol Endocrinol Metab. 2010 Mar; 298(3):E403-10.
Score: 0.003
-
TCF7L2 variant rs7903146 affects the risk of type 2 diabetes by modulating incretin action. Diabetes. 2010 Feb; 59(2):479-85.
Score: 0.003
-
A brief perspective on insulin production. Diabetes Obes Metab. 2009 Nov; 11 Suppl 4:189-96.
Score: 0.003
-
Impaired insulin secretion in transgenic mice over-expressing calpastatin in pancreatic ß-cells. Islets. 2009 Nov-Dec; 1(3):242-8.
Score: 0.003
-
Variation in the perilipin gene (PLIN) affects glucose and lipid metabolism in non-Hispanic white women with and without polycystic ovary syndrome. Diabetes Res Clin Pract. 2009 Dec; 86(3):186-92.
Score: 0.003
-
Kir6.2 variant E23K increases ATP-sensitive K+ channel activity and is associated with impaired insulin release and enhanced insulin sensitivity in adults with normal glucose tolerance. Diabetes. 2009 Aug; 58(8):1869-78.
Score: 0.003
-
Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes. 2008 Oct; 9(5):450-9.
Score: 0.003
-
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 2008 Apr; 57(4):1131-5.
Score: 0.003
-
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes. 2008 Apr; 57(4):1034-42.
Score: 0.003
-
Calpain-10 gene and protein expression in human skeletal muscle: effect of acute lipid-induced insulin resistance and type 2 diabetes. J Clin Endocrinol Metab. 2008 Mar; 93(3):992-8.
Score: 0.003
-
Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007 Sep 18; 104(38):15040-4.
Score: 0.003
-
Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies. Diabetes. 2007 Dec; 56(12):3033-44.
Score: 0.003
-
Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses. Mol Genet Metab. 2006 Sep-Oct; 89(1-2):174-84.
Score: 0.002
-
From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. Diabetes. 2006 Jun; 55(6):1713-22.
Score: 0.002
-
Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. Diabetes Care. 2006 Jun; 29(6):1458.
Score: 0.002
-
Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes. Diabetologia. 2006 Jul; 49(7):1560-6.
Score: 0.002
-
Core transcriptional regulatory circuitry in human hepatocytes. Mol Syst Biol. 2006; 2:2006.0017.
Score: 0.002
-
Patterns of linkage disequilibrium in the type 2 diabetes gene calpain-10. Diabetes. 2005 Dec; 54(12):3573-6.
Score: 0.002
-
The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population. Diabetologia. 2005 Oct; 48(10):2018-24.
Score: 0.002
-
Genome-wide scan for metabolic syndrome and related quantitative traits in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21-q25. Diabetes. 2004 Oct; 53(10):2676-83.
Score: 0.002
-
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes. 2004 Oct; 53(10):2713-8.
Score: 0.002
-
Epilepsy in the United Kingdom: seizure frequency and severity, anti-epileptic drug utilization and impact on life in 1652 people with epilepsy. Seizure. 2004 Sep; 13(6):425-33.
Score: 0.002
-
Genome-wide scan for type 2 diabetes loci in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21-q25. Diabetes. 2004 Jun; 53(6):1609-13.
Score: 0.002
-
Association of the (AU)AT-rich element polymorphism in PPP1R3 with hormonal and metabolic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2004 Jun; 89(6):2973-6.
Score: 0.002
-
RyR2 and calpain-10 delineate a novel apoptosis pathway in pancreatic islets. J Biol Chem. 2004 Jun 04; 279(23):24794-802.
Score: 0.002
-
Calpain system regulates muscle mass and glucose transporter GLUT4 turnover. J Biol Chem. 2004 May 14; 279(20):20915-20.
Score: 0.002
-
Control of pancreas and liver gene expression by HNF transcription factors. Science. 2004 Feb 27; 303(5662):1378-81.
Score: 0.002
-
Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population. Mol Genet Metab. 2004 Feb; 81(2):122-6.
Score: 0.002
-
Persistence of two genotypes of Neisseria gonorrhoeae during transmission. J Clin Microbiol. 2003 Dec; 41(12):5609-14.
Score: 0.002
-
Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am J Hum Genet. 2003 Nov; 73(5):1208-12.
Score: 0.002
-
Genetic variants of hepatocyte nuclear factor-1beta in Chinese young-onset diabetic patients with nephropathy. J Diabetes Complications. 2003 Nov-Dec; 17(6):369-73.
Score: 0.002
-
Confirmed locus on chromosome 11p and candidate loci on 6q and 8p for the triglyceride and cholesterol traits of combined hyperlipidemia. Arterioscler Thromb Vasc Biol. 2003 Nov 01; 23(11):2070-7.
Score: 0.002
-
Locus on chromosome 6p linked to elevated HDL cholesterol serum levels and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia. Circ Res. 2003 Mar 21; 92(5):569-76.
Score: 0.002
-
Mapping genes influencing type 2 diabetes risk and BMI in Japanese subjects. Diabetes. 2003 Jan; 52(1):209-13.
Score: 0.002
-
Variants within the calpain-10 gene on chromosome 2q37 (NIDDM1) and relationships to type 2 diabetes, insulin resistance, and impaired acute insulin secretion among Scandinavian Caucasians. Diabetes. 2002 Dec; 51(12):3561-7.
Score: 0.002
-
Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. J Clin Endocrinol Metab. 2002 Jun; 87(6):2606-10.
Score: 0.002
-
Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2002 Apr; 87(4):1669-73.
Score: 0.002
-
Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am J Hum Genet. 2002 May; 70(5):1096-106.
Score: 0.002
-
Improved glucose tolerance and insulin sensitivity after electrical stimulation-assisted cycling in people with spinal cord injury. Spinal Cord. 2002 Mar; 40(3):110-7.
Score: 0.002
-
Structure and transcription of the human m3 muscarinic receptor gene. Am J Respir Cell Mol Biol. 2002 Mar; 26(3):298-305.
Score: 0.002
-
Variation in the calpain-10 gene affects blood glucose levels in the British population. Diabetes. 2002 Jan; 51(1):247-50.
Score: 0.002
-
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001 Sep 27; 345(13):971-80.
Score: 0.002
-
Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet. 2001 Sep; 69(3):544-52.
Score: 0.002
-
Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med. 2001 May 24; 344(21):1588-92.
Score: 0.002
-
Reduced skeletal muscle calpain-10 transcript level is due to a cumulative decrease in major isoforms. Mol Genet Metab. 2001 May; 73(1):111-3.
Score: 0.002
-
Evidence that insulin is imprinted in the human yolk sac. Diabetes. 2001 Jan; 50(1):199-203.
Score: 0.002
-
Patients' perspectives on services for epilepsy: a survey of patient satisfaction, preferences and information provision in 2394 people with epilepsy. Seizure. 2000 Dec; 9(8):551-8.
Score: 0.002
-
NHS services for epilepsy from the patient's perspective: a survey of primary, secondary and tertiary care access throughout the UK. Seizure. 2000 Dec; 9(8):559-65.
Score: 0.002
-
A prospective social and molecular investigation of gonococcal transmission. Lancet. 2000 Nov 25; 356(9244):1812-7.
Score: 0.002
-
A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance. J Clin Invest. 2000 Oct; 106(7):R69-73.
Score: 0.002
-
Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1. FEBS Lett. 2000 Aug 11; 479(1-2):41-5.
Score: 0.002
-
Reduced pancreatic polypeptide response to hypoglycemia and amylin response to arginine in subjects with a mutation in the HNF-4alpha/MODY1 gene. Diabetes. 2000 Jun; 49(6):961-8.
Score: 0.002
-
Nature or nurture: an insightful illustration from a Chinese family with hepatocyte nuclear factor-1 alpha diabetes (MODY3) Diabetologia. 2000 Jun; 43(6):816-8.
Score: 0.002
-
Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report. Prenat Diagn. 2000 May; 20(5):417-21.
Score: 0.002
-
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int. 2000 Mar; 57(3):898-907.
Score: 0.002
-
Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH. Eur J Hum Genet. 2000 Mar; 8(3):223-8.
Score: 0.002
-
Diabetes, dependence, asymptotics, selection and significance. Nat Genet. 1997 Oct; 17(2):148.
Score: 0.001
-
Activation of human somatostatin receptor type 2 causes inhibition of cell growth in transfected HEK293 but not in transfected CHO cells. J Surg Res. 1997 Jul 15; 71(1):13-8.
Score: 0.001
-
The 31-cM region of chromosome 11 including the obesity gene tubby and ATP-sensitive potassium channel genes, SUR1 and Kir6.2, does not contain a major susceptibility locus for NIDDM in 127 non-Hispanic white affected sibships. Diabetes. 1997 Jul; 46(7):1227-9.
Score: 0.001
-
Cloning and characterization of exodus, a novel beta-chemokine. Blood. 1997 May 01; 89(9):3315-22.
Score: 0.001
-
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes. 1997 Apr; 46(4):720-5.
Score: 0.001
-
Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation. Diabetes. 1997 Apr; 46(4):726-30.
Score: 0.001
-
Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). Hum Mol Genet. 1997 Apr; 6(4):583-6.
Score: 0.001
-
Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM. Diabetologia. 1997 Apr; 40(4):473-5.
Score: 0.001
-
Skeletal muscle fibre type transformation following spinal cord injury. Spinal Cord. 1997 Feb; 35(2):86-91.
Score: 0.001
-
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia. 1997 Feb; 40(2):217-24.
Score: 0.001
-
Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. Am J Hum Genet. 1996 Dec; 59(6):1288-96.
Score: 0.001
-
Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption. J Clin Invest. 1996 Nov 15; 98(10):2398-402.
Score: 0.001
-
Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes. 1996 Nov; 45(11):1503-10.
Score: 0.001
-
Sexual partner networks in the transmission of sexually transmitted diseases. An analysis of gonorrhea cases in Sheffield, UK. Sex Transm Dis. 1996 Nov-Dec; 23(6):498-503.
Score: 0.001
-
Maturity onset diabetes of the young (MODY). Diabet Med. 1996 Sep; 13(9 Suppl 6):S90-5.
Score: 0.001
-
Genetic contribution of polymorphism of the GLUT1 and GLUT4 genes to the susceptibility to type 2 (non-insulin-dependent) diabetes mellitus in different populations. Acta Diabetol. 1996 Sep; 33(3):193-7.
Score: 0.001
-
A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet. 1996 Jun; 13(2):161-6.
Score: 0.001
-
Rat inwardly rectifying potassium channel Kir6.2: cloning electrophysiological characterization, and decreased expression in pancreatic islets of male Zucker diabetic fatty rats. Biochem Biophys Res Commun. 1996 Mar 27; 220(3):532-8.
Score: 0.001
-
An approach for identifying simple sequence repeat DNA polymorphisms near cloned cDNAs and genes. Linkage studies of the islet amyloid polypeptide/amylin and liver glycogen synthase genes and NIDDM. Diabetes. 1996 Mar; 45(3):291-4.
Score: 0.001
-
Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese. Diabetes. 1996 Feb; 45(2):267-9.
Score: 0.001
-
Human hexokinase II gene: exon-intron organization, mutation screening in NIDDM, and its relationship to muscle hexokinase activity. Diabetologia. 1995 Dec; 38(12):1466-74.
Score: 0.001
-
Linkage studies in NIDDM with markers near the sulphonylurea receptor gene. Diabetologia. 1995 Dec; 38(12):1479-81.
Score: 0.001
-
Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase. Diabetologia. 1995 Sep; 38(9):1055-60.
Score: 0.001
-
Identification of microsatellite markers near the human ob gene and linkage studies in NIDDM-affected sib pairs. Diabetes. 1995 Aug; 44(8):999-1001.
Score: 0.001
-
Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency. Genomics. 1995 Jun 10; 27(3):520-5.
Score: 0.001
-
Linkage and association between insulin-dependent diabetes mellitus (IDDM) susceptibility and markers near the glucokinase gene on chromosome 7. Nat Genet. 1995 Jun; 10(2):240-2.
Score: 0.001
-
Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. Diabetes. 1995 Jun; 44(6):699-704.
Score: 0.001
-
No evidence for mutations in a putative beta-cell ATP-sensitive K+ channel subunit in MODY, NIDDM, or GDM. Diabetes. 1995 May; 44(5):597-600.
Score: 0.001
-
Inositol 1,4,5-trisphosphate receptors, secretory granules and secretion in endocrine and neuroendocrine cells. Trends Neurosci. 1995 Apr; 18(4):157-61.
Score: 0.001
-
Characterization of Japanese families with early-onset type 2 (non-insulin dependent) diabetes mellitus and screening for mutations in the glucokinase and mitochondrial tRNA(Leu(UUR)) genes. Acta Diabetol. 1995 Mar; 32(1):17-22.
Score: 0.001
-
Clinical characteristics of subjects with a missense mutation in glucokinase. Diabet Med. 1995 Mar; 12(3):209-17.
Score: 0.001
-
Identification of two novel amino acid polymorphisms in beta-cell/liver (GLUT2) glucose transporter in Japanese subjects. Diabetologia. 1995 Feb; 38(2):211-5.
Score: 0.001
-
Structure and function of ASP, the human homolog of the mouse agouti gene. Hum Mol Genet. 1995 Feb; 4(2):223-30.
Score: 0.001
-
Assignment of SLC6A9 to human chromosome band 1p33 by in situ hybridization. Cytogenet Cell Genet. 1995; 71(3):211.
Score: 0.001
-
Linkage and association studies in insulin-dependent diabetes with a new dinucleotide repeat polymorphism at the GAD65 locus. Autoimmunity. 1995; 21(2):127-30.
Score: 0.001
-
Localization of the gene encoding a neutral amino acid transporter-like protein to human chromosome band 19q13.3 and characterization of a simple sequence repeat DNA polymorphism. Genomics. 1994 Sep 15; 23(2):490-1.
Score: 0.001
-
Immunological detection of isoforms of the somatostatin receptor subtype, SSTR2. J Neurochem. 1994 Aug; 63(2):447-55.
Score: 0.001
-
Regulation of expression of the human fructose transporter (GLUT5) by cyclic AMP. Biochem J. 1994 Jul 01; 301 ( Pt 1):169-75.
Score: 0.001
-
Molecular model of human beta-cell glucokinase built by analogy to the crystal structure of yeast hexokinase B. Diabetes. 1994 Jun; 43(6):784-91.
Score: 0.001
-
Compensation in pancreatic beta-cell function in subjects with glucokinase mutations. Diabetes. 1994 May; 43(5):718-23.
Score: 0.001
-
Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA. Mol Pharmacol. 1994 May; 45(5):854-60.
Score: 0.001
-
Gi alpha 1 selectively couples somatostatin receptor subtype 3 to adenylyl cyclase: identification of the functional domains of this alpha subunit necessary for mediating the inhibition by somatostatin of cAMP formation. Mol Pharmacol. 1994 Apr; 45(4):587-90.
Score: 0.001
-
Stimulation of tyrosine phosphatase and inhibition of cell proliferation by somatostatin analogues: mediation by human somatostatin receptor subtypes SSTR1 and SSTR2. Proc Natl Acad Sci U S A. 1994 Mar 15; 91(6):2315-9.
Score: 0.001
-
Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J Clin Invest. 1994 Mar; 93(3):1120-30.
Score: 0.001
-
Mutations in the glucokinase gene are not a major cause of late-onset type 2 (non-insulin-dependent) diabetes mellitus in Japanese subjects. Diabet Med. 1994 Mar; 11(2):193-7.
Score: 0.001
-
Maturity-onset diabetes of the young. Life Sci. 1994; 55(6):413-22.
Score: 0.001
-
Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of MODY in the RW pedigree. Diabetes. 1994 Jan; 43(1):40-6.
Score: 0.001
-
Molecular genetics of myeloid leukemia: identification of the commonly deleted segment of chromosome 20. Blood. 1993 Dec 01; 82(11):3424-9.
Score: 0.001
-
Characterization of cloned somatostatin receptors SSTR4 and SSTR5. Mol Pharmacol. 1993 Aug; 44(2):385-92.
Score: 0.001
-
Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation. Mol Endocrinol. 1993 Aug; 7(8):1049-60.
Score: 0.001
-
Hormonal/metabolic regulation of the human GLUT4/muscle-fat facilitative glucose transporter gene in transgenic mice. J Biol Chem. 1993 May 05; 268(13):9839-46.
Score: 0.001
-
Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family. Diabetologia. 1993 May; 36(5):433-7.
Score: 0.001
-
Somatostatin receptors, an expanding gene family: cloning and functional characterization of human SSTR3, a protein coupled to adenylyl cyclase. Mol Endocrinol. 1992 Dec; 6(12):2136-42.
Score: 0.001
-
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nat Genet. 1992 Oct; 2(2):153-6.
Score: 0.001
-
Dinucleotide repeat polymorphism in the human thyroid hormone receptor alpha gene (THRA1) on chromosome 17. Hum Mol Genet. 1992 Oct; 1(7):553.
Score: 0.001
-
Detection of a polymorphism within the pepsinogen C gene with PCR: construction of a linkage map around PGC from 6p11-6p21.3. Genomics. 1992 Oct; 14(2):398-402.
Score: 0.001
-
Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet. 1992 Sep; 2(1):46-9.
Score: 0.001
-
Human pancreatic beta-cell glucokinase: cDNA sequence and localization of the polymorphic gene to chromosome 7, band p 13. Diabetologia. 1992 Aug; 35(8):743-7.
Score: 0.001
-
Linkage analysis of maturity-onset diabetes of the young with microsatellite polymorphisms. No linkage to ADA or GLUT2 genes in two families. Diabetes. 1992 Aug; 41(8):962-7.
Score: 0.001
-
Repression of the insulin-like growth factor II gene by the Wilms tumor suppressor WT1. Science. 1992 Jul 31; 257(5070):674-8.
Score: 0.001
-
Fructose transporter in human spermatozoa and small intestine is GLUT5. J Biol Chem. 1992 Jul 25; 267(21):14523-6.
Score: 0.001
-
The aggregation of the 5' insulin gene polymorphism in insulin dependent (type I) diabetes mellitus families. J Med Genet. 1992 Jul; 29(7):447-50.
Score: 0.001
-
Expression and regulation of the human GLUT4/muscle-fat facilitative glucose transporter gene in transgenic mice. J Biol Chem. 1992 Jun 15; 267(17):11673-6.
Score: 0.001
-
Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature. 1992 Apr 23; 356(6371):721-2.
Score: 0.001
-
MODY: a model for the study of the molecular genetics of NIDDM. J Lab Clin Med. 1992 Mar; 119(3):206-10.
Score: 0.001