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Results: 1-25 | 26-38
Results: 1-25/38
USE OF CONFORMATION SENSITIVE GEL-ELECTROPHORESIS TO DETECT SINGLE-BASE CHANGES IN THE GENE FOR COL10A1
Authors: KORKKO J MILUNSKY J PROCKOP DJ ALAKOKKO L
Citation: J. Korkko et al., USE OF CONFORMATION SENSITIVE GEL-ELECTROPHORESIS TO DETECT SINGLE-BASE CHANGES IN THE GENE FOR COL10A1, Human mutation, 1998, pp. 201-203
FIRST-STAGE AUTOSOMAL GENOME SCREEN IN EXTENDED PEDIGREES SUGGESTS GENES PREDISPOSING TO LOW BONE-MINERAL DENSITY ON CHROMOSOMES 1P, 2P AND4Q
Authors: DEVOTO M SHIMOYA K CAMINIS J OTT J TENENHOUSE A WHYTE MP SEREDA L HALL S CONSIDINE E WILLIAMS CJ TROMP G KUIVANIEMI H ALAKOKKO L PROCKOP DJ SPOTILA LD
Citation: M. Devoto et al., FIRST-STAGE AUTOSOMAL GENOME SCREEN IN EXTENDED PEDIGREES SUGGESTS GENES PREDISPOSING TO LOW BONE-MINERAL DENSITY ON CHROMOSOMES 1P, 2P AND4Q, European journal of human genetics, 6(2), 1998, pp. 151-157
HUMAN COL9A1 AND COL9A2 GENES - 2 GENES OF 90 AND 15 KB CODE FOR SIMILAR POLYPEPTIDES OF THE SAME COLLAGEN MOLECULE
Authors: PIHLAJAMAA T VUORISTO MM ANNUNEN S PERALA M PROCKOP DJ ALAKOKKO L
Citation: T. Pihlajamaa et al., HUMAN COL9A1 AND COL9A2 GENES - 2 GENES OF 90 AND 15 KB CODE FOR SIMILAR POLYPEPTIDES OF THE SAME COLLAGEN MOLECULE, Matrix biology, 17(3), 1998, pp. 237-241
HETEROZYGOUS GLYCINE SUBSTITUTION IN THE COL11A2 GENE IN THE ORIGINALPATIENT WITH THE WEISSENBACHER-ZWEYMULLER-SYNDROME DEMONSTRATES ITS IDENTITY WITH HETEROZYGOUS OSMED (NONOCULAR STICKLER-SYNDROME)
Authors: PIHLAJAMAA T PROCKOP DJ FABER J WINTERPACHT A ZABEL B GIEDION A WIESBAUER P SPRANGER J ALAKOKKO L
Citation: T. Pihlajamaa et al., HETEROZYGOUS GLYCINE SUBSTITUTION IN THE COL11A2 GENE IN THE ORIGINALPATIENT WITH THE WEISSENBACHER-ZWEYMULLER-SYNDROME DEMONSTRATES ITS IDENTITY WITH HETEROZYGOUS OSMED (NONOCULAR STICKLER-SYNDROME), American journal of medical genetics, 80(2), 1998, pp. 115-120
CONFORMATION SENSITIVE GEL-ELECTROPHORESIS FOR SIMPLE AND ACCURATE DETECTION OF MUTATIONS - COMPARISON WITH DENATURING GRADIENT GEL-ELECTROPHORESIS AND NUCLEOTIDE SEQUENCING
Authors: KORKKO J ANNUNEN S PIHLAJAMAA T PROCKOP DJ ALAKOKKO L
Citation: J. Korkko et al., CONFORMATION SENSITIVE GEL-ELECTROPHORESIS FOR SIMPLE AND ACCURATE DETECTION OF MUTATIONS - COMPARISON WITH DENATURING GRADIENT GEL-ELECTROPHORESIS AND NUCLEOTIDE SEQUENCING, Proceedings of the National Academy of Sciences of the United Statesof America, 95(4), 1998, pp. 1681-1685
CLONING AND CHARACTERIZATION OF A 3RD HUMAN LYSYL HYDROXYLASE ISOFORM
Authors: PASSOJA K RAUTAVUOMA K ALAKOKKO L KOSONEN T KIVIRIKKO KI
Citation: K. Passoja et al., CLONING AND CHARACTERIZATION OF A 3RD HUMAN LYSYL HYDROXYLASE ISOFORM, Proceedings of the National Academy of Sciences of the United Statesof America, 95(18), 1998, pp. 10482-10486
ANALYSIS OF THE COL1A1 AND COL1A2 GENES BY PCR AMPLIFICATION AND SCANNING BY CONFORMATION-SENSITIVE GEL-ELECTROPHORESIS IDENTIFIES ONLY COL1A1 MUTATIONS IN 15 PATIENTS WITH OSTEOGENESIS IMPERFECTA TYPE-I - IDENTIFICATION OF COMMON SEQUENCES OF NULL-ALLELE MUTATIONS
Authors: KORKKO J ALAKOKKO L DEPAEPE A NUYTINCK L EARLEY J PROCKOP DJ
Citation: J. Korkko et al., ANALYSIS OF THE COL1A1 AND COL1A2 GENES BY PCR AMPLIFICATION AND SCANNING BY CONFORMATION-SENSITIVE GEL-ELECTROPHORESIS IDENTIFIES ONLY COL1A1 MUTATIONS IN 15 PATIENTS WITH OSTEOGENESIS IMPERFECTA TYPE-I - IDENTIFICATION OF COMMON SEQUENCES OF NULL-ALLELE MUTATIONS, American journal of human genetics, 62(1), 1998, pp. 98-110
2 NEW RECURRENT NUCLEOTIDE MUTATIONS IN THE COL1A1 GENE IN 4 PATIENTSWITH OSTEOGENESIS IMPERFECTA - ABOUT 1 5TH ARE RECURRENT/
Authors: KORKKO J KUIVANIEMI H PAASSILTA P ZHUANG JP TROMP G DEPAEPE A PROCKOP DJ ALAKOKKO L
Citation: J. Korkko et al., 2 NEW RECURRENT NUCLEOTIDE MUTATIONS IN THE COL1A1 GENE IN 4 PATIENTSWITH OSTEOGENESIS IMPERFECTA - ABOUT 1 5TH ARE RECURRENT/, Human mutation, 9(2), 1997, pp. 148-156
CHARACTERIZATION OF HUMAN TYPE-II PROCOLLAGEN AND COLLAGEN-SPECIFIC ANTIBODIES AND THEIR APPLICATION TO THE STUDY OF HUMAN TYPE-II COLLAGENPROCESSING AND ULTRASTRUCTURE
Authors: JIMENEZ SA ALAKOKKO L PROCKOP DJ MERRYMAN CF SHEPARD N DODGE GR
Citation: Sa. Jimenez et al., CHARACTERIZATION OF HUMAN TYPE-II PROCOLLAGEN AND COLLAGEN-SPECIFIC ANTIBODIES AND THEIR APPLICATION TO THE STUDY OF HUMAN TYPE-II COLLAGENPROCESSING AND ULTRASTRUCTURE, Matrix biology, 16(1), 1997, pp. 29-39
THE DETECTION OF MUTATIONS IN COL1A1 AND COL1A2 GENES IN PATIENTS WITH OSTEOGENESIS IMPERFECTA BY THE CONFORMATION SENSITIVE GEL-ELECTROPHORESIS
Authors: KORKKO J ALAKOKKO L PROCKOP DJ
Citation: J. Korkko et al., THE DETECTION OF MUTATIONS IN COL1A1 AND COL1A2 GENES IN PATIENTS WITH OSTEOGENESIS IMPERFECTA BY THE CONFORMATION SENSITIVE GEL-ELECTROPHORESIS, Journal of bone and mineral research, 12, 1997, pp. 526-526
CAN MUTATED GENES CAUSE COMMON OSTEOARTHRITIS
Authors: PROCKOP DJ ALAKOKKO L MCLAIN DA WILLIAMS C
Citation: Dj. Prockop et al., CAN MUTATED GENES CAUSE COMMON OSTEOARTHRITIS, British journal of rheumatology, 36(8), 1997, pp. 827-829
COLLAGEN-II CONTAINING A CYS SUBSTITUTION FOR ARG-ALPHA-1-519 - HOMOTRIMERIC MONOMERS CONTAINING THE MUTATION DO NOT ASSEMBLE INTO FIBRILS BUT ALTER THE SELF-ASSEMBLY OF THE NORMAL-PROTEIN
Authors: FERTALA A ALAKOKKO L WIADERKIEWICZ R PROCKOP DJ
Citation: A. Fertala et al., COLLAGEN-II CONTAINING A CYS SUBSTITUTION FOR ARG-ALPHA-1-519 - HOMOTRIMERIC MONOMERS CONTAINING THE MUTATION DO NOT ASSEMBLE INTO FIBRILS BUT ALTER THE SELF-ASSEMBLY OF THE NORMAL-PROTEIN, The Journal of biological chemistry, 272(10), 1997, pp. 6457-6464
ORIGIN OF EXTRACELLULAR-MATRIX SYNTHESIS DURING CORONARY REPAIR
Authors: SHI Y OBRIEN JE ALAKOKKO L CHUNG WS MANNION JD ZALEWSKI A
Citation: Y. Shi et al., ORIGIN OF EXTRACELLULAR-MATRIX SYNTHESIS DURING CORONARY REPAIR, Circulation, 95(4), 1997, pp. 997-1006
THE MOUSE COL11A2 GENE - SOME TRANSCRIPTS FROM THE ADJACENT RXR-BETA GENE EXTEND INTO THE COL11A2 GENE
Authors: VANDENBERG P VUORISTO MM ALAKOKKO L PROCKOP DJ
Citation: P. Vandenberg et al., THE MOUSE COL11A2 GENE - SOME TRANSCRIPTS FROM THE ADJACENT RXR-BETA GENE EXTEND INTO THE COL11A2 GENE, Matrix biology, 15(5), 1996, pp. 359-367
COMPARISON OF CONFORMATION SENSITIVE GEL-ELECTROPHORESIS WITH DENATURING GRADIENT GEL-ELECTROPHORESIS FOR DETECTION OF SINGLE-BASE MUTATIONS IN PCR PRODUCTS
Authors: KORKKO J PIHLAJAMAA T PROCKOP DJ ALAKOKKO L
Citation: J. Korkko et al., COMPARISON OF CONFORMATION SENSITIVE GEL-ELECTROPHORESIS WITH DENATURING GRADIENT GEL-ELECTROPHORESIS FOR DETECTION OF SINGLE-BASE MUTATIONS IN PCR PRODUCTS, Matrix biology, 15(3), 1996, pp. 174-174
SPECIFIC AND SELECTIVE-INHIBITION OF TRANSLATION OF MESSENGER-RNA FORTYPE-II PROCOLLAGEN IN CELLS OF TRANSGENIC MICE THAT SYNTHESIZE TYPE-I PROCOLLAGEN - A POSSIBLE ROLE FOR ENDOGENOUS ANTISENSE RNA
Authors: ALAKOKKO L YUAN C LEGUELLEC D FRANC S FERTALA A KHILLAN J SOKOLOV B PROCKOP D
Citation: L. Alakokko et al., SPECIFIC AND SELECTIVE-INHIBITION OF TRANSLATION OF MESSENGER-RNA FORTYPE-II PROCOLLAGEN IN CELLS OF TRANSGENIC MICE THAT SYNTHESIZE TYPE-I PROCOLLAGEN - A POSSIBLE ROLE FOR ENDOGENOUS ANTISENSE RNA, Matrix biology, 15(3), 1996, pp. 201-201
BIOCHEMICAL AND MORPHOLOGICAL CHARACTERIZATION OF CARBON-TETRACHLORIDE INDUCED LUNG FIBROSIS IN RATS
Authors: PAAKKO P ANTTILA S SORMUNEN R ALAKOKKO L PEURA R FERRANS VJ RYHANEN L
Citation: P. Paakko et al., BIOCHEMICAL AND MORPHOLOGICAL CHARACTERIZATION OF CARBON-TETRACHLORIDE INDUCED LUNG FIBROSIS IN RATS, Archives of toxicology, 70(9), 1996, pp. 540-552
THE EFFECT OF MALOTILATE ON TYPE-III AND TYPE-IV COLLAGEN, LAMININ AND FIBRONECTIN METABOLISM IN DIMETHYLNITROSAMINE-INDUCED LIVER FIBROSISIN THE RAT
Authors: RYHANEN L STENBACK F ALAKOKKO L SAVOLAINEN ER
Citation: L. Ryhanen et al., THE EFFECT OF MALOTILATE ON TYPE-III AND TYPE-IV COLLAGEN, LAMININ AND FIBRONECTIN METABOLISM IN DIMETHYLNITROSAMINE-INDUCED LIVER FIBROSISIN THE RAT, Journal of hepatology, 24(2), 1996, pp. 238-245
PHENOTYPIC EXPRESSIONS OF A GLY154ARG MUTATION IN TYPE-II COLLAGEN IN2 UNRELATED PATIENTS WITH SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD)
Authors: KAITILA I KORKKO J MARTTINEN E ALAKOKKO L
Citation: I. Kaitila et al., PHENOTYPIC EXPRESSIONS OF A GLY154ARG MUTATION IN TYPE-II COLLAGEN IN2 UNRELATED PATIENTS WITH SPONDYLOEPIMETAPHYSEAL DYSPLASIA (SEMD), American journal of medical genetics, 63(1), 1996, pp. 111-122
GENETIC-STUDY OF A MURINE MODEL FOR OPIOID ADDICTION
Authors: BERRETTINI W VUORISTO J FERRARO T ALAKOKKO L ALEXANDER R HOEHE M BUCHBERG A VOGEL W PROCKOP D
Citation: W. Berrettini et al., GENETIC-STUDY OF A MURINE MODEL FOR OPIOID ADDICTION, Biological psychiatry, 39(7), 1996, pp. 144-144
GENETIC-LINKAGE OF FAMILIAL GRANULOMATOUS INFLAMMATORY ARTHRITIS, SKIN RASH, AND UVEITIS TO CHROMOSOME-16
Authors: TROMP G KUIVANIEMI H RAPHAEL S ALAKOKKO L CHRISTIANO A CONSIDINE E DHULIPALA R HYLAND J JOKINEN A KIVIRIKKO S KORN R MADHATHERI S MCCARRON S PULKKINEN L PUNNETT H SHIMOYA K SPOTILA L TATE A WILLIAMS CJ
Citation: G. Tromp et al., GENETIC-LINKAGE OF FAMILIAL GRANULOMATOUS INFLAMMATORY ARTHRITIS, SKIN RASH, AND UVEITIS TO CHROMOSOME-16, American journal of human genetics, 59(5), 1996, pp. 1097-1107
ABERRANT SPLICING OF THE TYPE-III PROCOLLAGEN MESSENGER-RNA LEADS TO INTRACELLULAR DEGRADATION OF THE PROTEIN IN A PATIENT WITH EHLERS-DANLOS TYPE-IV
Authors: THAKKERVARIA S ANDERSON DW KUIVANIEMI H TROMP G SHIN HG VANDERREST M GLORIEUX FH ALAKOKKO L STOLLE CA
Citation: S. Thakkervaria et al., ABERRANT SPLICING OF THE TYPE-III PROCOLLAGEN MESSENGER-RNA LEADS TO INTRACELLULAR DEGRADATION OF THE PROTEIN IN A PATIENT WITH EHLERS-DANLOS TYPE-IV, Human mutation, 6(2), 1995, pp. 116-125
LINKAGE ANALYSIS IN 7 FAMILIES WITH LOW BONE-MINERAL DENSITY
Authors: SPOTILA LD DEVOTO M SHIMOVA K KUIVANIEMI H TROMP G WILLIAMS C ALAKOKKO L SEREDA L HALL S JOKINEN A DHULIPALA R CONSIDINE E MCCARRON S OTT J WHYTE M CAMINIS J TENENHOUSE A PROCKOP DJ
Citation: Ld. Spotila et al., LINKAGE ANALYSIS IN 7 FAMILIES WITH LOW BONE-MINERAL DENSITY, Journal of bone and mineral research, 10, 1995, pp. 184-184
CONSERVATION OF THE SIZES OF 53 INTRONS AND OVER 100 INTRONIC SEQUENCES FOR THE BINDING OF COMMON TRANSCRIPTION FACTORS IN THE HUMAN AND MOUSE GENES FOR TYPE-II PROCOLLAGEN (COL2A1)
Authors: ALAKOKKO L KVIST AP METSARANTA M KIVIRIKKO KI DECROMBRUGGHE B PROCKOP DJ VUORIO E
Citation: L. Alakokko et al., CONSERVATION OF THE SIZES OF 53 INTRONS AND OVER 100 INTRONIC SEQUENCES FOR THE BINDING OF COMMON TRANSCRIPTION FACTORS IN THE HUMAN AND MOUSE GENES FOR TYPE-II PROCOLLAGEN (COL2A1), Biochemical journal, 308, 1995, pp. 923-929
SUBSTITUTION OF ASPARTIC-ACID FOR GLYCINE AT POSITION-310 IN TYPE-II COLLAGEN PRODUCES ACHONDROGENESIS-II, AND SUBSTITUTION OF SERINE AT POSITION-805 PRODUCES HYPOCHONDROGENESIS - ANALYSIS OF GENOTYPE-PHENOTYPE RELATIONSHIPS
Authors: BONAVENTURE J COHENSOLAL L RITVANIEMI P VANMALDERGEM L KADHOM N DELEZOIDE AL MAROTEAUX P PROCKOP DJ ALAKOKKO L
Citation: J. Bonaventure et al., SUBSTITUTION OF ASPARTIC-ACID FOR GLYCINE AT POSITION-310 IN TYPE-II COLLAGEN PRODUCES ACHONDROGENESIS-II, AND SUBSTITUTION OF SERINE AT POSITION-805 PRODUCES HYPOCHONDROGENESIS - ANALYSIS OF GENOTYPE-PHENOTYPE RELATIONSHIPS, Biochemical journal, 307, 1995, pp. 823-830
Risultati: 1-25 | 26-38