-
1
-
-
84975742481
-
Genomics meets glycomics-The first GWAS study of human N-Glycome identifies HNF1a as a master regulator of plasma protein fucosylation
-
Lauc G, Essafi A, Huffman JE, et al. Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1a as a master regulator of plasma protein fucosylation. PLoS Genet 2010;6:e1001256
-
(2010)
PLoS Genet
, vol.6
-
-
Lauc, G.1
Essafi, A.2
Huffman, J.E.3
-
2
-
-
0032754473
-
On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database
-
Apweiler R, Hermjakob H, Sharon N. On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database. Biochim Biophys Acta 1999;1473:4-8
-
(1999)
Biochim Biophys Acta
, vol.1473
, pp. 4-8
-
-
Apweiler, R.1
Hermjakob, H.2
Sharon, N.3
-
3
-
-
70349326274
-
The repertoire of glycan determinants in the human glycome
-
Cummings RD. The repertoire of glycan determinants in the human glycome. Mol Biosyst 2009;5:1087-1104
-
(2009)
Mol Biosyst
, vol.5
, pp. 1087-1104
-
-
Cummings, R.D.1
-
4
-
-
78650241976
-
The biosynthesis of the selectin-ligand sialyl Lewis x in colorectal cancer tissues is regulated by fucosyltransferase VI and can be inhibited by an RNA interference-based approach
-
Trinchera M, Malagolini N, Chiricolo M, et al. The biosynthesis of the selectin-ligand sialyl Lewis x in colorectal cancer tissues is regulated by fucosyltransferase VI and can be inhibited by an RNA interference-based approach. Int J Biochem Cell Biol 2011;43:130-139
-
(2011)
Int J Biochem Cell Biol
, vol.43
, pp. 130-139
-
-
Trinchera, M.1
Malagolini, N.2
Chiricolo, M.3
-
5
-
-
84858996746
-
Diagnosis and management of maturity onset diabetes of the young (MODY)
-
Thanabalasingham G, Owen KR. Diagnosis and management of maturity onset diabetes of the young (MODY). BMJ 2011;343:d6044
-
(2011)
BMJ
, vol.343
-
-
Thanabalasingham, G.1
Owen, K.R.2
-
6
-
-
41149139275
-
European Molecular Genetics Quality Network (EMQN) MODY group. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
-
Ellard S, Bellanné-Chantelot C, Hattersley AT; European Molecular Genetics Quality Network (EMQN) MODY group. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008;51:546-553
-
(2008)
Diabetologia
, vol.51
, pp. 546-553
-
-
Ellard, S.1
Bellanné-Chantelot, C.2
Hattersley, A.T.3
-
7
-
-
78649322855
-
Maturity-onset diabetes of the young (MODY): How many cases are we missing?
-
Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S. Maturity-onset diabetes of the young (MODY): how many cases are we missing? Diabetologia 2010;53:2504-2508
-
(2010)
Diabetologia
, vol.53
, pp. 2504-2508
-
-
Shields, B.M.1
Hicks, S.2
Shepherd, M.H.3
Colclough, K.4
Hattersley, A.T.5
Ellard, S.6
-
8
-
-
0142186278
-
Genetic cause of hyperglycaemia and response to treatment in diabetes
-
Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet 2003;362:1275-1281
-
(2003)
Lancet
, vol.362
, pp. 1275-1281
-
-
Pearson, E.R.1
Starkey, B.J.2
Powell, R.J.3
Gribble, F.M.4
Clark, P.M.5
Hattersley, A.T.6
-
9
-
-
64249170094
-
A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients
-
Shepherd M, Shields B, Ellard S, Rubio-Cabezas O, Hattersley AT. A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med 2009;26: 437-441
-
(2009)
Diabet Med
, vol.26
, pp. 437-441
-
-
Shepherd, M.1
Shields, B.2
Ellard, S.3
Rubio-Cabezas, O.4
Hattersley, A.T.5
-
10
-
-
71049118068
-
Stability of N-glycan profiles in human plasma
-
Gornik O, Wagner J, Pucic M, Knezevic A, Redzic I, Lauc G. Stability of N-glycan profiles in human plasma. Glycobiology 2009;19:1547-1553
-
(2009)
Glycobiology
, vol.19
, pp. 1547-1553
-
-
Gornik, O.1
Wagner, J.2
Pucic, M.3
Knezevic, A.4
Redzic, I.5
Lauc, G.6
-
11
-
-
61849180382
-
Variability, heritability and environmental determinants of human plasma N-glycome
-
Knezevic A, Polasek O, Gornik O, et al. Variability, heritability and environmental determinants of human plasma N-glycome. J Proteome Res 2009;8:694-701
-
(2009)
J Proteome Res
, vol.8
, pp. 694-701
-
-
Knezevic, A.1
Polasek, O.2
Gornik, O.3
-
12
-
-
41449087577
-
HPLC-based analysis of serum N-glycans on a 96-well plate platform with dedicated database software
-
Royle L, Campbell MP, Radcliffe CM, et al. HPLC-based analysis of serum N-glycans on a 96-well plate platform with dedicated database software. Anal Biochem 2008;376:1-12
-
(2008)
Anal Biochem
, vol.376
, pp. 1-12
-
-
Royle, L.1
Campbell, M.P.2
Radcliffe, C.M.3
-
13
-
-
84861333315
-
Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young
-
Thanabalasingham G, Pal A, Selwood MP, et al. Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care 2012;35:1206-1212
-
(2012)
Diabetes Care
, vol.35
, pp. 1206-1212
-
-
Thanabalasingham, G.1
Pal, A.2
Selwood, M.P.3
-
14
-
-
33745597077
-
Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes
-
Harries LW, Ellard S, Stride A, Morgan NG, Hattersley AT. Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet 2006;15:2216-2224
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2216-2224
-
-
Harries, L.W.1
Ellard, S.2
Stride, A.3
Morgan, N.G.4
Hattersley, A.T.5
-
15
-
-
40749151157
-
The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3
-
Bellanné-Chantelot C, Carette C, Riveline JP, et al. The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. Diabetes 2008;57: 503-508
-
(2008)
Diabetes
, vol.57
, pp. 503-508
-
-
Bellanné-Chantelot, C.1
Carette, C.2
Riveline, J.P.3
-
16
-
-
79953715693
-
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
-
González-Pérez A, López-Bigas N. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet 2011;88:440-449
-
(2011)
Am J Hum Genet
, vol.88
, pp. 440-449
-
-
González-Pérez, A.1
López-Bigas, N.2
-
17
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-1081
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
18
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-249
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
19
-
-
80053189298
-
Predicting the functional impact of protein mutations: Application to cancer genomics
-
Reva B, Antipin Y, Sander C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res 2011;39:e118
-
(2011)
Nucleic Acids Res
, vol.39
-
-
Reva, B.1
Antipin, Y.2
Sander, C.3
-
20
-
-
68549091059
-
Proposal for a standard system for drawing structural diagrams of N-and O-linked carbohydrates and related compounds
-
Harvey DJ, Merry AH, Royle L, Campbell MP, Dwek RA, Rudd PM. Proposal for a standard system for drawing structural diagrams of N-and O-linked carbohydrates and related compounds. Proteomics 2009;9:3796-3801
-
(2009)
Proteomics
, vol.9
, pp. 3796-3801
-
-
Harvey, D.J.1
Merry, A.H.2
Royle, L.3
Campbell, M.P.4
Dwek, R.A.5
Rudd, P.M.6
-
21
-
-
78649810544
-
Assessment of highsensitivity C-reactive protein levels as diagnostic discriminator of maturityonset diabetes of the young due to HNF1A mutations
-
Owen KR, Thanabalasingham G, James TJ, et al. Assessment of highsensitivity C-reactive protein levels as diagnostic discriminator of maturityonset diabetes of the young due to HNF1A mutations. Diabetes Care 2010; 33:1919-1924
-
(2010)
Diabetes Care
, vol.33
, pp. 1919-1924
-
-
Owen, K.R.1
Thanabalasingham, G.2
James, T.J.3
-
22
-
-
80054692207
-
A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes
-
Thanabalasingham G, Shah N, Vaxillaire M, et al. A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. Diabetologia 2011;54:2801-2810
-
(2011)
Diabetologia
, vol.54
, pp. 2801-2810
-
-
Thanabalasingham, G.1
Shah, N.2
Vaxillaire, M.3
-
23
-
-
33748357551
-
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young
-
Ellard S, Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat 2006;27:854-869
-
(2006)
Hum Mutat
, vol.27
, pp. 854-869
-
-
Ellard, S.1
Colclough, K.2
-
24
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium
-
1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010;467:1061-1073
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
-
25
-
-
84875409501
-
-
National Heart, Lung, and Blood Institute. NHLBI Exome Sequencing Project (ESP. Exome Variant Server [Internet]. Seattle, WA, NESPE. Available from. Accessed June 2012
-
National Heart, Lung, and Blood Institute. NHLBI Exome Sequencing Project (ESP. Exome Variant Server [Internet]. Seattle, WA, NESPE. Available from http://evs.gs.washington.edu/EVS/. Accessed June 2012
-
-
-
-
26
-
-
0035458854
-
The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria
-
Bingham C, Ellard S, Nicholls AJ, et al. The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. Diabetes 2001;50:2047-2052
-
(2001)
Diabetes
, vol.50
, pp. 2047-2052
-
-
Bingham, C.1
Ellard, S.2
Nicholls, A.J.3
-
27
-
-
3843061389
-
Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene
-
Stride A, Pearson ER, Brown A, Gooding K, Castleden HA, Hattersley AT. Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene. Diabet Med 2004;21:928-930
-
(2004)
Diabet Med
, vol.21
, pp. 928-930
-
-
Stride, A.1
Pearson, E.R.2
Brown, A.3
Gooding, K.4
Castleden, H.A.5
Hattersley, A.T.6
-
28
-
-
75749155017
-
An investigation of serum concentration of apoM as a potential MODY3 marker using a novel ELISA
-
Cervin C, Axler O, Holmkvist J, et al. An investigation of serum concentration of apoM as a potential MODY3 marker using a novel ELISA. J Intern Med 2010;267:316-321
-
(2010)
J Intern Med
, vol.267
, pp. 316-321
-
-
Cervin, C.1
Axler, O.2
Holmkvist, J.3
-
29
-
-
75149183712
-
Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes
-
Pal A, Farmer AJ, Dudley C, et al. Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes. Diabetes Care 2010;33:252-257
-
(2010)
Diabetes Care
, vol.33
, pp. 252-257
-
-
Pal, A.1
Farmer, A.J.2
Dudley, C.3
-
30
-
-
0344412888
-
Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: Haploinsufficiency is associated with reduced serum apolipoprotein M levels
-
Richter S, Shih DQ, Pearson ER, et al. Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels. Diabetes 2003;52:2989-2995
-
(2003)
Diabetes
, vol.52
, pp. 2989-2995
-
-
Richter, S.1
Shih, D.Q.2
Pearson, E.R.3
-
31
-
-
49649099316
-
Clinical application of 1,5-anhydroglucitol measurements in patients with hepatocyte nuclear factor-1alpha maturity-onset diabetes of the young
-
Skupien J, Gorczynska-Kosiorz S, Klupa T, et al. Clinical application of 1,5-anhydroglucitol measurements in patients with hepatocyte nuclear factor-1alpha maturity-onset diabetes of the young. Diabetes Care 2008;31:1496-1501
-
(2008)
Diabetes Care
, vol.31
, pp. 1496-1501
-
-
Skupien, J.1
Gorczynska-Kosiorz, S.2
Klupa, T.3
-
32
-
-
55849089906
-
Evaluation of Apolipoprotein M Serum Concentration as a Biomarker of HNF-1alpha MODY
-
Skupien J, Kepka G, Gorczynska-Kosiorz S, et al. Evaluation of Apolipoprotein M Serum Concentration as a Biomarker of HNF-1alpha MODY. Rev Diabet Stud 2007;4:231-235
-
(2007)
Rev Diabet Stud
, vol.4
, pp. 231-235
-
-
Skupien, J.1
Kepka, G.2
Gorczynska-Kosiorz, S.3
-
33
-
-
80054845457
-
High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes
-
McDonald TJ, Shields BM, Lawry J, et al. High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes. Diabetes Care 2011; 34:1860-1862
-
(2011)
Diabetes Care
, vol.34
, pp. 1860-1862
-
-
McDonald, T.J.1
Shields, B.M.2
Lawry, J.3
-
34
-
-
36249003396
-
Changes of serum glycans during sepsis and acute pancreatitis
-
Gornik O, Royle L, Harvey DJ, et al. Changes of serum glycans during sepsis and acute pancreatitis. Glycobiology 2007;17:1321-1332
-
(2007)
Glycobiology
, vol.17
, pp. 1321-1332
-
-
Gornik, O.1
Royle, L.2
Harvey, D.J.3
-
35
-
-
79951709597
-
Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-alpha/hepatocyte nuclear factor 4-alpha maturity-onset diabetes of the young from long-duration type 1 diabetes
-
Besser RE, Shepherd MH, McDonald TJ, et al. Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-alpha/hepatocyte nuclear factor 4-alpha maturity-onset diabetes of the young from long-duration type 1 diabetes. Diabetes Care 2011;34:286-291
-
(2011)
Diabetes Care
, vol.34
, pp. 286-291
-
-
Besser, R.E.1
Shepherd, M.H.2
McDonald, T.J.3
-
36
-
-
77954518174
-
Effects of aging, body mass index, plasma lipid profiles, and smoking on human plasma N-glycans
-
Knezevic A, Gornik O, Polasek O, et al. Effects of aging, body mass index, plasma lipid profiles, and smoking on human plasma N-glycans. Glycobiology 2010;20:959-969
-
(2010)
Glycobiology
, vol.20
, pp. 959-969
-
-
Knezevic, A.1
Gornik, O.2
Polasek, O.3
-
37
-
-
80051653635
-
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes
-
McDonald TJ, Colclough K, Brown R, et al. Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med 2011;28:1028-1033
-
(2011)
Diabet Med
, vol.28
, pp. 1028-1033
-
-
McDonald, T.J.1
Colclough, K.2
Brown, R.3
-
38
-
-
0043137112
-
Overestimation of the receiver operating characteristic curve for logistic regression
-
Copas JB. Overestimation of the receiver operating characteristic curve for logistic regression. Biometrika 2002;89:315-331
-
(2002)
Biometrika
, vol.89
, pp. 315-331
-
-
Copas, J.B.1
-
39
-
-
0033544962
-
Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations
-
Vaxillaire M, Abderrahmani A, Boutin P, et al. Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations. J Biol Chem 1999; 274:35639-35646
-
(1999)
J Biol Chem
, vol.274
, pp. 35639-35646
-
-
Vaxillaire, M.1
Abderrahmani, A.2
Boutin, P.3
-
40
-
-
0032967401
-
Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: Clinical features and functional characterization
-
Yoshiuchi I, Yamagata K, Yang Q, et al. Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization. Diabetologia 1999;42:621-626
-
(1999)
Diabetologia
, vol.42
, pp. 621-626
-
-
Yoshiuchi, I.1
Yamagata, K.2
Yang, Q.3
|