-
1
-
-
0032544280
-
A closer look at SNPs suggests difficulties
-
Pennisi E. A closer look at SNPs suggests difficulties. Science 1998, 281:1787-1789.
-
(1998)
Science
, vol.281
, pp. 1787-1789
-
-
Pennisi, E.1
-
2
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
Consortium T.I.H. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007, 449:851-861.
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Consortium, T.I.H.1
-
3
-
-
33645999355
-
S-Adenosylmethionine: jack of all trades and master of everything?
-
Loenen W.A. S-Adenosylmethionine: jack of all trades and master of everything?. Biochem. Soc. Trans. 2006, 34:330-333.
-
(2006)
Biochem. Soc. Trans.
, vol.34
, pp. 330-333
-
-
Loenen, W.A.1
-
4
-
-
1542314855
-
Human catechol O-methyltransferase genetic variation: gene resequencing and functional characterization of variant allozymes
-
Shield A.J., et al. Human catechol O-methyltransferase genetic variation: gene resequencing and functional characterization of variant allozymes. Mol. Psychiatry 2004, 9:151-160.
-
(2004)
Mol. Psychiatry
, vol.9
, pp. 151-160
-
-
Shield, A.J.1
-
5
-
-
0031969375
-
Human histamine N-methyltransferase pharmacogenetics: common genetic polymorphisms that alter activity
-
Preuss C.V., et al. Human histamine N-methyltransferase pharmacogenetics: common genetic polymorphisms that alter activity. Mol. Pharmacol. 1998, 53:708-717.
-
(1998)
Mol. Pharmacol.
, vol.53
, pp. 708-717
-
-
Preuss, C.V.1
-
6
-
-
0031572828
-
Human erythrocyte protein l-isoaspartyl methyltransferase: heritability of basal activity and genetic polymorphism for thermal stability
-
David C.L., et al. Human erythrocyte protein l-isoaspartyl methyltransferase: heritability of basal activity and genetic polymorphism for thermal stability. Arch. Biochem. Biophys. 1997, 346:277-286.
-
(1997)
Arch. Biochem. Biophys.
, vol.346
, pp. 277-286
-
-
David, C.L.1
-
7
-
-
27444443859
-
Thiopurine S-methyltransferase pharmacogenetics: variant allele functional and comparative genomics
-
Salavaggione O.E., et al. Thiopurine S-methyltransferase pharmacogenetics: variant allele functional and comparative genomics. Pharmacogenet. Genomics 2005, 15:801-815.
-
(2005)
Pharmacogenet. Genomics
, vol.15
, pp. 801-815
-
-
Salavaggione, O.E.1
-
8
-
-
0036461162
-
Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism
-
Luka Z., et al. Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. Hum. Genet. 2002, 110:68-74.
-
(2002)
Hum. Genet.
, vol.110
, pp. 68-74
-
-
Luka, Z.1
-
9
-
-
0345171090
-
Effect of naturally occurring mutations in human glycine N-methyltransferase on activity and conformation
-
Luka Z., Wagner C. Effect of naturally occurring mutations in human glycine N-methyltransferase on activity and conformation. Biochem. Biophys. Res. Commun. 2003, 312:1067-1072.
-
(2003)
Biochem. Biophys. Res. Commun.
, vol.312
, pp. 1067-1072
-
-
Luka, Z.1
Wagner, C.2
-
10
-
-
4444319288
-
Characterization of seven novel mutations in seven patients with GAMT deficiency
-
Item C.B., et al. Characterization of seven novel mutations in seven patients with GAMT deficiency. Hum. Mutat. 2004, 23:524.
-
(2004)
Hum. Mutat.
, vol.23
, pp. 524
-
-
Item, C.B.1
-
11
-
-
29144481765
-
Human phenylethanolamine N-methyltransferase pharmacogenomics: gene re-sequencing and functional genomics
-
Ji Y., et al. Human phenylethanolamine N-methyltransferase pharmacogenomics: gene re-sequencing and functional genomics. J. Neurochem. 2005, 95:1766-1776.
-
(2005)
J. Neurochem.
, vol.95
, pp. 1766-1776
-
-
Ji, Y.1
-
12
-
-
33746504112
-
Common genetic polymorphisms affect the human requirement for the nutrient choline
-
da Costa K.A., et al. Common genetic polymorphisms affect the human requirement for the nutrient choline. FASEB J. 2006, 20:1336-1344.
-
(2006)
FASEB J.
, vol.20
, pp. 1336-1344
-
-
da Costa, K.A.1
-
13
-
-
33646365629
-
Human arsenic methyltransferase (AS3MT) pharmacogenetics: gene resequencing and functional genomics studies
-
Wood T.C., et al. Human arsenic methyltransferase (AS3MT) pharmacogenetics: gene resequencing and functional genomics studies. J. Biol. Chem. 2006, 281:7364-7373.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 7364-7373
-
-
Wood, T.C.1
-
14
-
-
0019775115
-
Genetics of red cell COMT activity: analysis of thermal stability and family data
-
Spielman R.S., Weinshilboum R.M. Genetics of red cell COMT activity: analysis of thermal stability and family data. Am. J. Med. Genet. 1981, 10:279-290.
-
(1981)
Am. J. Med. Genet.
, vol.10
, pp. 279-290
-
-
Spielman, R.S.1
Weinshilboum, R.M.2
-
15
-
-
0030004521
-
Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders
-
Lachman H.M., et al. Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 1996, 6:243-250.
-
(1996)
Pharmacogenetics
, vol.6
, pp. 243-250
-
-
Lachman, H.M.1
-
16
-
-
6344265879
-
Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain
-
Chen J., et al. Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. Am. J. Hum. Genet. 2004, 75:807-821.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 807-821
-
-
Chen, J.1
-
17
-
-
0037717169
-
Catechol-O-methyltransferase gene polymorphism and post-menopausal breast cancer risk
-
Wedren S., et al. Catechol-O-methyltransferase gene polymorphism and post-menopausal breast cancer risk. Carcinogenesis 2003, 24:681-687.
-
(2003)
Carcinogenesis
, vol.24
, pp. 681-687
-
-
Wedren, S.1
-
18
-
-
0033135862
-
Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder
-
Karayiorgou M., et al. Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder. Biol. Psychiatry 1999, 45:1178-1189.
-
(1999)
Biol. Psychiatry
, vol.45
, pp. 1178-1189
-
-
Karayiorgou, M.1
-
19
-
-
33645119580
-
Thiopurine S-methyltransferase pharmacogenetics: insights, challenges and future directions
-
Wang L., Weinshilboum R. Thiopurine S-methyltransferase pharmacogenetics: insights, challenges and future directions. Oncogene 2006, 25:1629-1638.
-
(2006)
Oncogene
, vol.25
, pp. 1629-1638
-
-
Wang, L.1
Weinshilboum, R.2
-
20
-
-
0034812118
-
Two polymorphic forms of human histamine methyltransferase: structural, thermal, and kinetic comparisons
-
Horton J.R., et al. Two polymorphic forms of human histamine methyltransferase: structural, thermal, and kinetic comparisons. Structure 2001, 9:837-849.
-
(2001)
Structure
, vol.9
, pp. 837-849
-
-
Horton, J.R.1
-
21
-
-
44649191697
-
Crystal structures of human 108V and 108M catechol O-methyltransferase
-
Rutherford K., et al. Crystal structures of human 108V and 108M catechol O-methyltransferase. J. Mol. Biol. 2008, 380:120-130.
-
(2008)
J. Mol. Biol.
, vol.380
, pp. 120-130
-
-
Rutherford, K.1
-
22
-
-
0032859445
-
Polymorphic forms of the protein l-isoaspartate (d-aspartate) O-methyltransferase involved in the repair of age-damaged proteins
-
DeVry C.G., Clarke S. Polymorphic forms of the protein l-isoaspartate (d-aspartate) O-methyltransferase involved in the repair of age-damaged proteins. J. Hum. Genet. 1999, 44:275-288.
-
(1999)
J. Hum. Genet.
, vol.44
, pp. 275-288
-
-
DeVry, C.G.1
Clarke, S.2
-
24
-
-
21544457479
-
Human thiopurine S-methyltransferase pharmacogenetics: variant allozyme misfolding and aggresome formation
-
Wang L.,et al. Human thiopurine S-methyltransferase pharmacogenetics: variant allozyme misfolding and aggresome formation. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:9394-9399.
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 9394-9399
-
-
Wang, L.1
-
25
-
-
52449135481
-
The V108M mutation decreases the structural stability of catechol O-methyltransferase
-
Rutherford K., et al. The V108M mutation decreases the structural stability of catechol O-methyltransferase. Biochim. Biophys. Acta 2008, 1784:1098-1105.
-
(2008)
Biochim. Biophys. Acta
, vol.1784
, pp. 1098-1105
-
-
Rutherford, K.1
-
26
-
-
38349189694
-
The histamine N-methyltransferase T105I polymorphism affects active site structure and dynamics
-
Rutherford K., et al. The histamine N-methyltransferase T105I polymorphism affects active site structure and dynamics. Biochemistry 2008, 47:893-901.
-
(2008)
Biochemistry
, vol.47
, pp. 893-901
-
-
Rutherford, K.1
-
27
-
-
67650045643
-
A hotspot of inactivation: The A22S and V108M polymorphisms individually destabilize the active site structure of catechol O-methyltransferase
-
Rutherford K., Daggett V. A hotspot of inactivation: The A22S and V108M polymorphisms individually destabilize the active site structure of catechol O-methyltransferase. Biochemistry 2009, 48:6450-6460.
-
(2009)
Biochemistry
, vol.48
, pp. 6450-6460
-
-
Rutherford, K.1
Daggett, V.2
-
28
-
-
36749103757
-
Catechol-O-methyltransferase: effects of the Val108Met polymorphism on protein turnover in human cells
-
Doyle A.E., Yager J.D. Catechol-O-methyltransferase: effects of the Val108Met polymorphism on protein turnover in human cells. Biochim. Biophys. Acta 2008, 1780:27-33.
-
(2008)
Biochim. Biophys. Acta
, vol.1780
, pp. 27-33
-
-
Doyle, A.E.1
Yager, J.D.2
-
29
-
-
72649084172
-
The V119I polymorphism in protein l-isoaspartate O-methyltransferase alters the substrate-binding interface
-
Rutherford K., Daggett V. The V119I polymorphism in protein l-isoaspartate O-methyltransferase alters the substrate-binding interface. Protein Eng. Des. Sel. 2009, 22:713-721.
-
(2009)
Protein Eng. Des. Sel.
, vol.22
, pp. 713-721
-
-
Rutherford, K.1
Daggett, V.2
-
30
-
-
0030986251
-
*2): mechanisms for the genetic polymorphism of TPMT activity
-
*2): mechanisms for the genetic polymorphism of TPMT activity. Proc. Natl. Acad. Sci. U. S. A. 1997, 94:6444-6449.
-
(1997)
Proc. Natl. Acad. Sci. U. S. A.
, vol.94
, pp. 6444-6449
-
-
Tai, H.L.1
-
31
-
-
44149113487
-
Four human thiopurine S-methyltransferase alleles severely affect protein structure and dynamics
-
Rutherford K., Daggett V. Four human thiopurine S-methyltransferase alleles severely affect protein structure and dynamics. J. Mol. Biol. 2008, 379:803-814.
-
(2008)
J. Mol. Biol.
, vol.379
, pp. 803-814
-
-
Rutherford, K.1
Daggett, V.2
-
32
-
-
17844368319
-
Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype
-
Meyer-Lindenberg A., et al. Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype. Nat. Neurosci. 2005, 8:594-596.
-
(2005)
Nat. Neurosci.
, vol.8
, pp. 594-596
-
-
Meyer-Lindenberg, A.1
-
33
-
-
25144443484
-
Structural basis for inhibition of histamine N-methyltransferase by diverse drugs
-
Horton J.R., et al. Structural basis for inhibition of histamine N-methyltransferase by diverse drugs. J. Mol. Biol. 2005, 353:334-344.
-
(2005)
J. Mol. Biol.
, vol.353
, pp. 334-344
-
-
Horton, J.R.1
-
34
-
-
0032546420
-
Structure, function and physiological role of glycine N-methyltransferase
-
Ogawa H., et al. Structure, function and physiological role of glycine N-methyltransferase. Int. J. Biochem. Cell Biol. 1998, 30:13-26.
-
(1998)
Int. J. Biochem. Cell Biol.
, vol.30
, pp. 13-26
-
-
Ogawa, H.1
-
35
-
-
0034827802
-
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia
-
Mudd S.H., et al. Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia. J. Inherit. Metab. Dis. 2001, 24:448-464.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 448-464
-
-
Mudd, S.H.1
-
36
-
-
0942298956
-
Glycine N -methyltransferase deficiency: a new patient with a novel mutation
-
Augoustides-Savvopoulou P., et al. Glycine N -methyltransferase deficiency: a new patient with a novel mutation. J. Inherit. Metab. Dis. 2003, 26:745-759.
-
(2003)
J. Inherit. Metab. Dis.
, vol.26
, pp. 745-759
-
-
Augoustides-Savvopoulou, P.1
-
37
-
-
34548435697
-
Destabilization of human glycine N-methyltransferase by H176N mutation
-
Luka Z., et al. Destabilization of human glycine N-methyltransferase by H176N mutation. Protein Sci. 2007, 16:1957-1964.
-
(2007)
Protein Sci.
, vol.16
, pp. 1957-1964
-
-
Luka, Z.1
-
38
-
-
0000850303
-
Purification and properties of phenylethanolamine-N-methyl transferase
-
Axelrod J. Purification and properties of phenylethanolamine-N-methyl transferase. J. Biol. Chem. 1962, 237:1657-1660.
-
(1962)
J. Biol. Chem.
, vol.237
, pp. 1657-1660
-
-
Axelrod, J.1
-
39
-
-
0020565496
-
Inhibitors of phenylethanolamine N-methyltransferase and epinephrine biosynthesis: a potential source of new drugs
-
Bondinell W.E., et al. Inhibitors of phenylethanolamine N-methyltransferase and epinephrine biosynthesis: a potential source of new drugs. Drug Metab. Rev. 1983, 14:709-721.
-
(1983)
Drug Metab. Rev.
, vol.14
, pp. 709-721
-
-
Bondinell, W.E.1
-
40
-
-
0034843228
-
Identification of 197 genetic variations in six human methyltransferase genes in the Japanese population
-
Saito S., et al. Identification of 197 genetic variations in six human methyltransferase genes in the Japanese population. J. Hum. Genet. 2001, 46:529-537.
-
(2001)
J. Hum. Genet.
, vol.46
, pp. 529-537
-
-
Saito, S.1
-
41
-
-
0141674743
-
Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites
-
Cui J., et al. Association of polymorphisms in the promoter region of the PNMT gene with essential hypertension in African Americans but not in whites. Am. J. Hypertens. 2003, 16:859-863.
-
(2003)
Am. J. Hypertens.
, vol.16
, pp. 859-863
-
-
Cui, J.1
-
42
-
-
0035826537
-
Phenylethanolamine N-methyltransferase (PNMT) gene and early-onset Alzheimer disease
-
Mann M.B., et al. Phenylethanolamine N-methyltransferase (PNMT) gene and early-onset Alzheimer disease. Am. J. Med. Genet. 2001, 105:312-316.
-
(2001)
Am. J. Med. Genet.
, vol.105
, pp. 312-316
-
-
Mann, M.B.1
-
43
-
-
0036193614
-
Association between the phenylethanolamine N-methyltransferase gene and multiple sclerosis
-
Mann M.B., et al. Association between the phenylethanolamine N-methyltransferase gene and multiple sclerosis. J. Neuroimmunol. 2002, 124:101-105.
-
(2002)
J. Neuroimmunol.
, vol.124
, pp. 101-105
-
-
Mann, M.B.1
-
44
-
-
0016722112
-
Labile methyl balances for normal humans on various dietary regimens
-
Mudd S.H., Poole J.R. Labile methyl balances for normal humans on various dietary regimens. Metabolism 1975, 24:721-735.
-
(1975)
Metabolism
, vol.24
, pp. 721-735
-
-
Mudd, S.H.1
Poole, J.R.2
-
45
-
-
29344449683
-
A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme
-
Leuzzi V., et al. A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme. Mol. Genet. Metab. 2006, 87:88-90.
-
(2006)
Mol. Genet. Metab.
, vol.87
, pp. 88-90
-
-
Leuzzi, V.1
-
46
-
-
37149003369
-
Role of the Met(287)Thr polymorphism in the AS3MT gene on the metabolic arsenic profile
-
Hernandez A., et al. Role of the Met(287)Thr polymorphism in the AS3MT gene on the metabolic arsenic profile. Mutat. Res. 2008, 637:80-92.
-
(2008)
Mutat. Res.
, vol.637
, pp. 80-92
-
-
Hernandez, A.1
-
47
-
-
34047116836
-
The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population
-
Dong H., et al. The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population. J. Hepatol. 2007, 46:915-920.
-
(2007)
J. Hepatol.
, vol.46
, pp. 915-920
-
-
Dong, H.1
-
48
-
-
4444221565
-
UCSF Chimera-a visualization system for exploratory research and analysis
-
Pettersen E.F., et al. UCSF Chimera-a visualization system for exploratory research and analysis. J. Comput. Chem. 2004, 25:1605-1612.
-
(2004)
J. Comput. Chem.
, vol.25
, pp. 1605-1612
-
-
Pettersen, E.F.1
-
49
-
-
0036176909
-
Crystal structure of human l-isoaspartyl-O-methyl-transferase with S-adenosyl homocysteine at 1.6-Å resolution and modeling of an isoaspartyl-containing peptide at the active site
-
Smith C.D., et al. Crystal structure of human l-isoaspartyl-O-methyl-transferase with S-adenosyl homocysteine at 1.6-Å resolution and modeling of an isoaspartyl-containing peptide at the active site. Protein Sci. 2002, 11:625-635.
-
(2002)
Protein Sci.
, vol.11
, pp. 625-635
-
-
Smith, C.D.1
-
50
-
-
33847360477
-
Structural basis of allele variation of human thiopurine-S-methyltransferase
-
Wu H., et al. Structural basis of allele variation of human thiopurine-S-methyltransferase. Proteins: Struct. Funct. Bioinformatics 2007, 67:198-208.
-
(2007)
Proteins: Struct. Funct. Bioinformatics
, vol.67
, pp. 198-208
-
-
Wu, H.1
-
51
-
-
0034696755
-
Mechanisms for auto-inhibition and forced product release in glycine N-methyltransferase: crystal structures of wild-type, mutant R175K and S-adenosylhomocysteine-bound R175K enzymes
-
Huang Y., et al. Mechanisms for auto-inhibition and forced product release in glycine N-methyltransferase: crystal structures of wild-type, mutant R175K and S-adenosylhomocysteine-bound R175K enzymes. J. Mol. Biol. 2000, 298:149-162.
-
(2000)
J. Mol. Biol.
, vol.298
, pp. 149-162
-
-
Huang, Y.1
-
52
-
-
0242438047
-
Human glycine N-methyltransferase is unfolded by urea through a compact monomer state
-
Luka Z., Wagner C. Human glycine N-methyltransferase is unfolded by urea through a compact monomer state. Arch. Biochem. Biophys. 2003, 420:153-160.
-
(2003)
Arch. Biochem. Biophys.
, vol.420
, pp. 153-160
-
-
Luka, Z.1
Wagner, C.2
-
53
-
-
4544339401
-
Glycine N-methyltransferases: a comparison of the crystal structures and kinetic properties of recombinant human, mouse and rat enzymes
-
Pakhomova S., et al. Glycine N-methyltransferases: a comparison of the crystal structures and kinetic properties of recombinant human, mouse and rat enzymes. Proteins: Struct. Funct. Bioinformatics 2004, 57:331-337.
-
(2004)
Proteins: Struct. Funct. Bioinformatics
, vol.57
, pp. 331-337
-
-
Pakhomova, S.1
|