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Results: 1-25 | 26-35
Results: 1-25/35
MUTATIONAL ANALYSIS OF THE CYSTATHIONINE-BETA-SYNTHASE GENE - A SPLICING MUTATION, 2 MISSENSE MUTATIONS AND AN INSERTION IN PATIENTS WITH HOMOCYSTINURIA
Authors: GORDON RB COX AJ DAWSON PA EMMERSON BT KRAUS JP DUDMAN NPB
Citation: Rb. Gordon et al., MUTATIONAL ANALYSIS OF THE CYSTATHIONINE-BETA-SYNTHASE GENE - A SPLICING MUTATION, 2 MISSENSE MUTATIONS AND AN INSERTION IN PATIENTS WITH HOMOCYSTINURIA, Human mutation, 11(4), 1998, pp. 332-332
THE HUMAN CYSTATHIONINE BETA-SYNTHASE (CBS) GENE - COMPLETE SEQUENCE,ALTERNATIVE SPLICING, AND POLYMORPHISMS
Authors: KRAUS JP OLIVERIUSOVA J SOKOLOVA J KRAUS E VLCEK C DEFRANCHIS R MACLEAN KN BAO LM BUKOVSKA G PATTERSON D PACES V ANSORGE W KOZICH V
Citation: Jp. Kraus et al., THE HUMAN CYSTATHIONINE BETA-SYNTHASE (CBS) GENE - COMPLETE SEQUENCE,ALTERNATIVE SPLICING, AND POLYMORPHISMS, Genomics (San Diego, Calif.), 52(3), 1998, pp. 312-324
DETECTION OF A NOVEL DELETION IN THE CYSTATHIONINE BETA-SYNTHASE (CBS) GENE USING AN IMPROVED GENOMIC DNA-BASED METHOD
Authors: GAUSTADNES M KLUIJTMANS LAJ JENSEN OK RASMUSSEN K HEIL SG KRAUS JP BLOM HJ INGERSLEV J RUDIGER N
Citation: M. Gaustadnes et al., DETECTION OF A NOVEL DELETION IN THE CYSTATHIONINE BETA-SYNTHASE (CBS) GENE USING AN IMPROVED GENOMIC DNA-BASED METHOD, FEBS letters, 431(2), 1998, pp. 175-179
TRYPSIN CLEAVAGE OF HUMAN CYSTATHIONINE BETA-SYNTHASE INTO AN EVOLUTIONARILY CONSERVED ACTIVE CORE - STRUCTURAL AND FUNCTIONAL CONSEQUENCES
Authors: KERY V PONELEIT L KRAUS JP
Citation: V. Kery et al., TRYPSIN CLEAVAGE OF HUMAN CYSTATHIONINE BETA-SYNTHASE INTO AN EVOLUTIONARILY CONSERVED ACTIVE CORE - STRUCTURAL AND FUNCTIONAL CONSEQUENCES, Archives of biochemistry and biophysics (Print), 355(2), 1998, pp. 222-232
IDENTIFICATION AND TISSUE DISTRIBUTION OF HUMAN CYSTATHIONINE BETA-SYNTHASE MESSENGER-RNA ISOFORMS
Authors: BAO LM VLCEK C PACES V KRAUS JP
Citation: Lm. Bao et al., IDENTIFICATION AND TISSUE DISTRIBUTION OF HUMAN CYSTATHIONINE BETA-SYNTHASE MESSENGER-RNA ISOFORMS, Archives of biochemistry and biophysics, 350(1), 1998, pp. 95-103
CHARACTERIZATION OF 5 MISSENSE MUTATIONS IN THE CYSTATHIONINE BETA-SYNTHASE GENE FROM 3 PATIENTS WITH B-6-NONRESPONSIVE HOMOCYSTINURIA
Authors: DAWSON PA COX AJ EMMERSON BT DUDMAN NPB KRAUS JP GORDON RB
Citation: Pa. Dawson et al., CHARACTERIZATION OF 5 MISSENSE MUTATIONS IN THE CYSTATHIONINE BETA-SYNTHASE GENE FROM 3 PATIENTS WITH B-6-NONRESPONSIVE HOMOCYSTINURIA, European journal of human genetics, 5(1), 1997, pp. 15-21
THE CARBOXY-TERMINUS OF HUMAN CYSTATHIONINE 3-SYNTHASE IS INVOLVED INTETRAMER FORMATION AND ACTIVATION OF THE ENZYME BY S-ADENOSYL-L-METHIONINE
Authors: KERY V PONELEIT L ELLEDER D STRAUBHAAR JR TEISINGER J KRAUS JP
Citation: V. Kery et al., THE CARBOXY-TERMINUS OF HUMAN CYSTATHIONINE 3-SYNTHASE IS INVOLVED INTETRAMER FORMATION AND ACTIVATION OF THE ENZYME BY S-ADENOSYL-L-METHIONINE, The FASEB journal, 11(9), 1997, pp. 1613-1613
ANALYSIS OF CBS ALLELES IN CZECH AND SLOVAK PATIENTS WITH HOMOCYSTINURIA - REPORT ON 3 NOVEL MUTATIONS E176K, W409X AND 1223-DE199(37)
Authors: KOZICH V JANOSIK M SOKOLOVA J OLIVERIUSOVA J ORENDAC M KRAUS JP ELLEDER D
Citation: V. Kozich et al., ANALYSIS OF CBS ALLELES IN CZECH AND SLOVAK PATIENTS WITH HOMOCYSTINURIA - REPORT ON 3 NOVEL MUTATIONS E176K, W409X AND 1223-DE199(37), Journal of inherited metabolic disease, 20(3), 1997, pp. 363-366
SECONDARY STRUCTURE OF RECOMBINANT HUMAN CYSTATHIONINE BETA-SYNTHASE IN AQUEOUS-SOLUTION - EFFECT OF LIGAND-BINDING AND PROTEOLYTIC TRUNCATION
Authors: DONG AC KERY V MATSUURA J MANNING MC KRAUS JP CARPENTER JF
Citation: Ac. Dong et al., SECONDARY STRUCTURE OF RECOMBINANT HUMAN CYSTATHIONINE BETA-SYNTHASE IN AQUEOUS-SOLUTION - EFFECT OF LIGAND-BINDING AND PROTEOLYTIC TRUNCATION, Archives of biochemistry and biophysics, 344(1), 1997, pp. 125-132
IDENTIFICATION AND TISSUE DISTRIBUTION OF HUMAN CYSTATHIONINE BETA-SYNTHASE MESSENGER-RNA ISOFORMS
Authors: BAO L VLCEK C PACES V KRAUS JP
Citation: L. Bao et al., IDENTIFICATION AND TISSUE DISTRIBUTION OF HUMAN CYSTATHIONINE BETA-SYNTHASE MESSENGER-RNA ISOFORMS, American journal of human genetics, 61(4), 1997, pp. 955-955
GENE ORGANIZATION OF HUMAN CYSTATHIONINE BETA-SYNTHASE
Authors: OLIVERIUSOVA J KRAUS E SOKOLOVA J VLCEK C DEFRANCHIS R BUKOVSKA G JANOSIK M PATTERSON D PACES V KOZICH V KRAUS JP
Citation: J. Oliveriusova et al., GENE ORGANIZATION OF HUMAN CYSTATHIONINE BETA-SYNTHASE, American journal of human genetics, 61(4), 1997, pp. 2233-2233
CHAPERONIN-MEDIATED ASSEMBLY OF WILD-TYPE AND MUTANT SUBUNITS OF HUMAN PROPIONYL-COA CARBOXYLASE EXPRESSED IN ESCHERICHIA-COLI
Authors: KELSON TL OHURA T KRAUS JP
Citation: Tl. Kelson et al., CHAPERONIN-MEDIATED ASSEMBLY OF WILD-TYPE AND MUTANT SUBUNITS OF HUMAN PROPIONYL-COA CARBOXYLASE EXPRESSED IN ESCHERICHIA-COLI, Human molecular genetics, 5(3), 1996, pp. 331-337
COMPARISON OF THE 5'-END OF THE RAT AND MOUSE CYSTATHIONINE BETA-SYNTHASE GENES
Authors: ROPER MD STRAUBHAAR JR KRAUS E SOKOLOVA J HREBICEK M KRAUS JP
Citation: Md. Roper et al., COMPARISON OF THE 5'-END OF THE RAT AND MOUSE CYSTATHIONINE BETA-SYNTHASE GENES, Mammalian genome, 7(10), 1996, pp. 754-757
REDOX-DEPENDENT DISSOCIATION OF CYSTATHIONINE BETA-SYNTHASE OLIGOMERS- ROLE OF S-ADENOSYLMETHIONINE
Authors: KERY V KRAUS JP
Citation: V. Kery et Jp. Kraus, REDOX-DEPENDENT DISSOCIATION OF CYSTATHIONINE BETA-SYNTHASE OLIGOMERS- ROLE OF S-ADENOSYLMETHIONINE, The FASEB journal, 10(6), 1996, pp. 2915-2915
DEFECTIVE CYSTATHIONINE BETA-SYNTHASE REGULATION BY S-ADENOSYLMETHIONINE IN A PARTIALLY PYRIDOXINE RESPONSIVE HOMOCYSTINURIA PATIENT
Authors: KLUIJTMANS LAJ BOERS GHJ STEVENS EMB RENIER WO KRAUS JP TRIJBELS FJM VANDENHEUVEL LPWJ BLOM HJ
Citation: Laj. Kluijtmans et al., DEFECTIVE CYSTATHIONINE BETA-SYNTHASE REGULATION BY S-ADENOSYLMETHIONINE IN A PARTIALLY PYRIDOXINE RESPONSIVE HOMOCYSTINURIA PATIENT, The Journal of clinical investigation, 98(2), 1996, pp. 285-289
VARIABLE HYPERHOMOCYSTEINAEMIA PHENOTYPE IN HETEROZYGOTES FOR THE GLY307SER MUTATION IN CYSTATHIONINE BETA-SYNTHASE
Authors: DAWSON PA KRAUS JP COCHRAN DAE DUDMAN NPB EMMERSON BT GORDON RB
Citation: Pa. Dawson et al., VARIABLE HYPERHOMOCYSTEINAEMIA PHENOTYPE IN HETEROZYGOTES FOR THE GLY307SER MUTATION IN CYSTATHIONINE BETA-SYNTHASE, Australian and New Zealand Journal of Medicine, 26(2), 1996, pp. 180-185
HIGH-FREQUENCY (71-PERCENT) OF CYSTATHIONINE BETA-SNYTHASE MUTATION G307S IN IRISH HOMOCYSTINURIA PATIENTS
Authors: GALLAGHER PM WARD P TAN S NAUGHTEN E KRAUS JP SELLAR GC MCCONNELL DJ GRAHAM I WHITEHEAD AS
Citation: Pm. Gallagher et al., HIGH-FREQUENCY (71-PERCENT) OF CYSTATHIONINE BETA-SNYTHASE MUTATION G307S IN IRISH HOMOCYSTINURIA PATIENTS, Human mutation, 6(2), 1995, pp. 177-180
HYPERHOMOCYSTEINEMIA IN PREMATURE ARTERIAL-DISEASE - EXAMINATION OF CYSTATHIONINE BETA-SYNTHASE ALLELES AT THE MOLECULAR-LEVEL
Authors: KOZICH V KRAUS E DEFRANCHIS R FOWLER B BOERS GHJ GRAHAM I KRAUS JP
Citation: V. Kozich et al., HYPERHOMOCYSTEINEMIA IN PREMATURE ARTERIAL-DISEASE - EXAMINATION OF CYSTATHIONINE BETA-SYNTHASE ALLELES AT THE MOLECULAR-LEVEL, Human molecular genetics, 4(4), 1995, pp. 623-629
MOLECULAR ANALYSIS OF PATIENTS AFFECTED BY HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY - REPORT OF A NEW MUTATION IN EXON-8 AND A DELETION IN INTRON-11
Authors: SPERANDEO MP PANICO M PEPE A CANDITO M DEFRANCHIS R KRAUS JP ANDRIA G SEBASTIO G
Citation: Mp. Sperandeo et al., MOLECULAR ANALYSIS OF PATIENTS AFFECTED BY HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY - REPORT OF A NEW MUTATION IN EXON-8 AND A DELETION IN INTRON-11, Journal of inherited metabolic disease, 18(2), 1995, pp. 211-214
DELTA-AMINOLEVULINATE INCREASES HEME SATURATION AND YIELD OF HUMAN CYSTATHIONINE BETA-SYNTHASE EXPRESSED IN ESCHERICHIA-COLI
Authors: KERY V ELLEDER D KRAUS JP
Citation: V. Kery et al., DELTA-AMINOLEVULINATE INCREASES HEME SATURATION AND YIELD OF HUMAN CYSTATHIONINE BETA-SYNTHASE EXPRESSED IN ESCHERICHIA-COLI, Archives of biochemistry and biophysics, 316(1), 1995, pp. 24-29
CHAPERONIN-MEDIATED FOLDING AND OVEREXPRESSION OF RECOMBINANT HUMAN PROPIONYL COA CARBOXYLASE IN ESCHERICHIA-COLI
Authors: KELSON TL OHURA T KRAUS JP
Citation: Tl. Kelson et al., CHAPERONIN-MEDIATED FOLDING AND OVEREXPRESSION OF RECOMBINANT HUMAN PROPIONYL COA CARBOXYLASE IN ESCHERICHIA-COLI, American journal of human genetics, 57(4), 1995, pp. 1411-1411
A MISSENSE MUTATION (1278T) IN THE CYSTATHIONINE BETA-SYNTHASE GENE PREVALENT IN PYRIDOXINE-RESPONSIVE HOMOCYSTINURIA, AND ASSOCIATED WITH MILD CLINICAL PHENOTYPE
Authors: SHIH VE FRINGER JM MANDELL R KRAUS JP BERRY GT HEIDENREICH RA KORSON MS LEVY HL RAMESH V
Citation: Ve. Shih et al., A MISSENSE MUTATION (1278T) IN THE CYSTATHIONINE BETA-SYNTHASE GENE PREVALENT IN PYRIDOXINE-RESPONSIVE HOMOCYSTINURIA, AND ASSOCIATED WITH MILD CLINICAL PHENOTYPE, American journal of human genetics, 57(1), 1995, pp. 34-39
THE MOLECULAR-BASIS OF HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY IN ITALIAN FAMILIES, AND REPORT OF 4 NOVEL MUTATIONS
Authors: SEBASTIO G SPERANDEO MP PANICO M DEFRANCHIS R KRAUS JP ANDRIA G
Citation: G. Sebastio et al., THE MOLECULAR-BASIS OF HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY IN ITALIAN FAMILIES, AND REPORT OF 4 NOVEL MUTATIONS, American journal of human genetics, 56(6), 1995, pp. 1324-1333
EXPRESSION OF HUMAN CYSTATHIONINE BETA-SYNTHASE IN ESCHERICHIA-COLI -PURIFICATION AND CHARACTERIZATION
Authors: BUKOVSKA G KERY V KRAUS JP
Citation: G. Bukovska et al., EXPRESSION OF HUMAN CYSTATHIONINE BETA-SYNTHASE IN ESCHERICHIA-COLI -PURIFICATION AND CHARACTERIZATION, Protein expression and purification, 5(5), 1994, pp. 442-448
IDENTICAL GENOTYPES IN SIBLINGS WITH DIFFERENT HOMOCYSTINURIC PHENOTYPES - IDENTIFICATION OF 3 MUTATIONS IN CYSTATHIONINE BETA-SYNTHASE USING AN IMPROVED BACTERIAL EXPRESSION SYSTEM
Authors: DEFRANCHIS R KOZICH V MCINNES RR KRAUS JP
Citation: R. Defranchis et al., IDENTICAL GENOTYPES IN SIBLINGS WITH DIFFERENT HOMOCYSTINURIC PHENOTYPES - IDENTIFICATION OF 3 MUTATIONS IN CYSTATHIONINE BETA-SYNTHASE USING AN IMPROVED BACTERIAL EXPRESSION SYSTEM, Human molecular genetics, 3(7), 1994, pp. 1103-1108
Risultati: 1-25 | 26-35