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Results: 1-25 | 26-29
Results: 1-25/29
A TYPE-III COLLAGEN GLY559 TO ARG HELIX MUTATION IN EHLERS-DANLOS-SYNDROME TYPE-IV
Authors: BATEMAN JF CHIODO AA WENG YM CHAN D HAAN E
Citation: Jf. Bateman et al., A TYPE-III COLLAGEN GLY559 TO ARG HELIX MUTATION IN EHLERS-DANLOS-SYNDROME TYPE-IV, Human mutation, 1998, pp. 257-259
REDUCED COLLAGEN-VI CAUSES BETHLEM MYOPATHY - A HETEROZYGOUS COL6A1 NONSENSE MUTATION RESULTS IN MESSENGER-RNA DECAY AND FUNCTIONAL HAPLOINSUFFICIENCY
Authors: LAMANDE SR BATEMAN JF HUTCHISON W GARDNER RJM BOWER SP BYRNE E DAHL HHM
Citation: Sr. Lamande et al., REDUCED COLLAGEN-VI CAUSES BETHLEM MYOPATHY - A HETEROZYGOUS COL6A1 NONSENSE MUTATION RESULTS IN MESSENGER-RNA DECAY AND FUNCTIONAL HAPLOINSUFFICIENCY, Human molecular genetics, 7(6), 1998, pp. 981-989
EFFECTS OF RELAXIN, PREGNANCY AND PARTURITION ON COLLAGEN-METABOLISM IN THE RAT PUBIC SYMPHYSIS
Authors: SAMUEL CS COGHLAN JP BATEMAN JF
Citation: Cs. Samuel et al., EFFECTS OF RELAXIN, PREGNANCY AND PARTURITION ON COLLAGEN-METABOLISM IN THE RAT PUBIC SYMPHYSIS, Journal of Endocrinology, 159(1), 1998, pp. 117-125
A NONSENSE MUTATION IN THE CARBOXYL-TERMINAL DOMAIN OF TYPE-X COLLAGEN CAUSES HAPLOINSUFFICIENCY IN SCHMID METAPHYSEAL CHONDRODYSPLASIA
Authors: CHAN D WENG YM GRAHAM HK SILLENCE DO BATEMAN JF
Citation: D. Chan et al., A NONSENSE MUTATION IN THE CARBOXYL-TERMINAL DOMAIN OF TYPE-X COLLAGEN CAUSES HAPLOINSUFFICIENCY IN SCHMID METAPHYSEAL CHONDRODYSPLASIA, The Journal of clinical investigation, 101(7), 1998, pp. 1490-1499
INTRACELLULAR TRAFFICKING AND DEGRADATION OF UNASSOCIATED PRO-ALPHA(I) COLLAGEN CHAINS
Authors: GOTKIN MG LAMANDE SG RIPLEY CR BATEMAN JF BIENKOWSKI RS
Citation: Mg. Gotkin et al., INTRACELLULAR TRAFFICKING AND DEGRADATION OF UNASSOCIATED PRO-ALPHA(I) COLLAGEN CHAINS, Molecular biology of the cell, 8, 1997, pp. 2617-2617
SITE-DIRECTED MUTAGENESIS OF TYPE-VI COLLAGEN
Authors: LAMANDE SR SIGALAS E GOLUB SB CHU ML TIMPL R DZIADEK M BATEMAN JF
Citation: Sr. Lamande et al., SITE-DIRECTED MUTAGENESIS OF TYPE-VI COLLAGEN, Matrix biology, 16(2), 1997, pp. 74-75
IN-VITRO EXPRESSION ANALYSIS OF COLLAGEN BIOSYNTHESIS AND ASSEMBLY
Authors: CHAN D LAMANDE SR MCQUILLAN DJ BATEMAN JF
Citation: D. Chan et al., IN-VITRO EXPRESSION ANALYSIS OF COLLAGEN BIOSYNTHESIS AND ASSEMBLY, Journal of biochemical and biophysical methods, 36(1), 1997, pp. 11-29
COL4A5 MUTATION SCREENING IN ALPORT SYNDROME (AS) USING A SIMPLIFIED PCR-BASED CHEMICAL CLEAVAGE METHOD (CCM) ON SKIN FIBROBLAST CDNA
Authors: CHRYSOSTOMOU A BECKER GJ CHAN D BATEMAN JF
Citation: A. Chrysostomou et al., COL4A5 MUTATION SCREENING IN ALPORT SYNDROME (AS) USING A SIMPLIFIED PCR-BASED CHEMICAL CLEAVAGE METHOD (CCM) ON SKIN FIBROBLAST CDNA, Kidney international, 51(4), 1997, pp. 1324-1324
CLINICOPATHOLOGICAL FINDINGS IN CONGENITAL ANEURYSMS OF THE GREAT-VESSELS
Authors: ADES LC KNIGHT WB BYARD RW BATEMAN JF ESQUIVEL JAD MEE RBB HAAN EA MILEWICZ DM
Citation: Lc. Ades et al., CLINICOPATHOLOGICAL FINDINGS IN CONGENITAL ANEURYSMS OF THE GREAT-VESSELS, American journal of medical genetics, 66(3), 1996, pp. 289-299
AN ALPHA-1(II) GLY(913) TO CYS SUBSTITUTION PREVENTS THE MATRIX INCORPORATION OF TYPE-II COLLAGEN WHICH IS REPLACED WITH TYPE-I AND TYPE-III COLLAGENS IN CARTILAGE FROM A PATIENT WITH HYPOCHONDROGENESIS
Authors: MUNDLOS S CHAN D MCGILL J BATEMAN JF
Citation: S. Mundlos et al., AN ALPHA-1(II) GLY(913) TO CYS SUBSTITUTION PREVENTS THE MATRIX INCORPORATION OF TYPE-II COLLAGEN WHICH IS REPLACED WITH TYPE-I AND TYPE-III COLLAGENS IN CARTILAGE FROM A PATIENT WITH HYPOCHONDROGENESIS, American journal of medical genetics, 63(1), 1996, pp. 129-136
THE PHENOTYPIC FEATURES OF OSTEOGENESIS IMPERFECTA RESULTING FROM A MUTATION OF THE CARBOXYL-TERMINAL PRO-ALPHA-1(I) PROPEPTIDE THAT IMPAIRS THE ASSEMBLY OF TYPE-I PROCOLLAGEN AND FORMATION OF THE EXTRACELLULAR-MATRIX
Authors: COLE WG CHOW CW BATEMAN JF SILLENCE DO
Citation: Wg. Cole et al., THE PHENOTYPIC FEATURES OF OSTEOGENESIS IMPERFECTA RESULTING FROM A MUTATION OF THE CARBOXYL-TERMINAL PRO-ALPHA-1(I) PROPEPTIDE THAT IMPAIRS THE ASSEMBLY OF TYPE-I PROCOLLAGEN AND FORMATION OF THE EXTRACELLULAR-MATRIX, Journal of Medical Genetics, 33(11), 1996, pp. 965-967
DISRUPTED GROWTH PLATES AND PROGRESSIVE DEFORMITIES IN OSTEOGENESIS IMPERFECTA AS A RESULT OF THE SUBSTITUTION OF GLYCINE-585 BY VALINE IN THE ALPHA-2(I) CHAIN OF TYPE-I COLLAGEN
Authors: COLE WG CHAN D CHOW CW ROGERS JG BATEMAN JF
Citation: Wg. Cole et al., DISRUPTED GROWTH PLATES AND PROGRESSIVE DEFORMITIES IN OSTEOGENESIS IMPERFECTA AS A RESULT OF THE SUBSTITUTION OF GLYCINE-585 BY VALINE IN THE ALPHA-2(I) CHAIN OF TYPE-I COLLAGEN, Journal of Medical Genetics, 33(11), 1996, pp. 968-971
MULTIEXON DELETIONS IN THE TYPE-I COLLAGEN COL1A2 GENE IN OSTEOGENESIS IMPERFECTA TYPE IB - MOLECULES CONTAINING THE SHORTENED ALPHA-2(I) CHAINS SHOW DIFFERENTIAL INCORPORATION INTO THE BONE AND SKIN EXTRACELLULAR-MATRIX
Authors: MUNDLOS S CHAN D WENG YM SILLENCE DO COLE WG BATEMAN JF
Citation: S. Mundlos et al., MULTIEXON DELETIONS IN THE TYPE-I COLLAGEN COL1A2 GENE IN OSTEOGENESIS IMPERFECTA TYPE IB - MOLECULES CONTAINING THE SHORTENED ALPHA-2(I) CHAINS SHOW DIFFERENTIAL INCORPORATION INTO THE BONE AND SKIN EXTRACELLULAR-MATRIX, The Journal of biological chemistry, 271(35), 1996, pp. 21068-21074
SITE-DIRECTED MUTAGENESIS OF HUMAN TYPE-X COLLAGEN - EXPRESSION OF ALPHA-1(X) NC1, NC2, AND HELICAL MUTATIONS IN-VITRO AND IN TRANSFECTED CELLS
Authors: CHAN D WENG YM HOCKING AM GOLUB S MCQUILLAN DJ BATEMAN JF
Citation: D. Chan et al., SITE-DIRECTED MUTAGENESIS OF HUMAN TYPE-X COLLAGEN - EXPRESSION OF ALPHA-1(X) NC1, NC2, AND HELICAL MUTATIONS IN-VITRO AND IN TRANSFECTED CELLS, The Journal of biological chemistry, 271(23), 1996, pp. 13566-13572
THE EFFECT OF RELAXIN ON COLLAGEN-METABOLISM IN THE NONPREGNANT RAT PUBIC SYMPHYSIS - THE INFLUENCE OF ESTROGEN AND PROGESTERONE IN REGULATING RELAXIN ACTIVITY
Authors: SAMUEL CS BUTKUS A COGHLAN JP BATEMAN JF
Citation: Cs. Samuel et al., THE EFFECT OF RELAXIN ON COLLAGEN-METABOLISM IN THE NONPREGNANT RAT PUBIC SYMPHYSIS - THE INFLUENCE OF ESTROGEN AND PROGESTERONE IN REGULATING RELAXIN ACTIVITY, Endocrinology, 137(9), 1996, pp. 3884-3890
MATRIX DEPOSITION BY A CALCIFYING HUMAN OSTEOGENIC-SARCOMA CELL-LINE (SAOS-2)
Authors: MCQUILLAN DJ RICHARDSON MD BATEMAN JF
Citation: Dj. Mcquillan et al., MATRIX DEPOSITION BY A CALCIFYING HUMAN OSTEOGENIC-SARCOMA CELL-LINE (SAOS-2), Bone, 16(4), 1995, pp. 415-426
COL4A5 MUTATION SCREENING IN ALPORTS-SYNDROME (AS) USING A SIMPLIFIEDPCR-BASED CHEMICAL CLEAVAGE METHOD (CCM) ON SKIN FIBROBLAST CDNA
Authors: CHRYSOSTOMOU A BECKER GJ CHAN D BATEMAN JF
Citation: A. Chrysostomou et al., COL4A5 MUTATION SCREENING IN ALPORTS-SYNDROME (AS) USING A SIMPLIFIEDPCR-BASED CHEMICAL CLEAVAGE METHOD (CCM) ON SKIN FIBROBLAST CDNA, Journal of the American Society of Nephrology, 6(3), 1995, pp. 692-692
RECURRENT SUBSTITUTIONS OF ARGININE-789 BY CYSTEINE IN PRO-ALPHA-1-(II)-COLLAGEN CHAINS PRODUCE SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
Authors: CHAN D ROGERS JF BATEMAN JF COLE WG
Citation: D. Chan et al., RECURRENT SUBSTITUTIONS OF ARGININE-789 BY CYSTEINE IN PRO-ALPHA-1-(II)-COLLAGEN CHAINS PRODUCE SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA, Journal of rheumatology, 22, 1995, pp. 37-38
ABNORMAL TYPE-III COLLAGEN PRODUCED BY AN EXON-17-SKIPPING MUTATION OF THE COL3A1 GENE IN EHLERS-DANLOS SYNDROME TYPE-IV IS NOT INCORPORATED INTO THE EXTRACELLULAR-MATRIX
Authors: CHIODO AA SILLENCE DO COLE WG BATEMAN JF
Citation: Aa. Chiodo et al., ABNORMAL TYPE-III COLLAGEN PRODUCED BY AN EXON-17-SKIPPING MUTATION OF THE COL3A1 GENE IN EHLERS-DANLOS SYNDROME TYPE-IV IS NOT INCORPORATED INTO THE EXTRACELLULAR-MATRIX, Biochemical journal, 311, 1995, pp. 939-943
DISTINCT SKELETAL ABNORMALITIES IN 4 GIRLS WITH SHPRINTZEN-GOLDBERG SYNDROME
Authors: ADES LC MORRIS LL POWER RC WILSON M HAAN EA BATEMAN JF MILEWICZ DM SILLENCE DO
Citation: Lc. Ades et al., DISTINCT SKELETAL ABNORMALITIES IN 4 GIRLS WITH SHPRINTZEN-GOLDBERG SYNDROME, American journal of medical genetics, 57(4), 1995, pp. 565-572
TYPE-X COLLAGEN MULTIMER ASSEMBLY IN-VITRO IS PREVENTED BY A GLY(618)TO VAL MUTATION IN THE ALPHA-1(X) NC1 DOMAIN RESULTING IN SCHMID METAPHYSEAL CHONDRODYSPLASIA
Authors: CHAN D COLE WG ROGERS JG BATEMAN JF
Citation: D. Chan et al., TYPE-X COLLAGEN MULTIMER ASSEMBLY IN-VITRO IS PREVENTED BY A GLY(618)TO VAL MUTATION IN THE ALPHA-1(X) NC1 DOMAIN RESULTING IN SCHMID METAPHYSEAL CHONDRODYSPLASIA, The Journal of biological chemistry, 270(9), 1995, pp. 4558-4562
A COL2A1 MUTATION IN ACHONDROGENESIS TYPE-II RESULTS IN THE REPLACEMENT OF TYPE-II COLLAGES BY TYPE-I AND TYPE-III COLLAGENS IN CARTILAGE
Authors: CHAN D COLE WG CHOW CW MUNDLOS S BATEMAN JF
Citation: D. Chan et al., A COL2A1 MUTATION IN ACHONDROGENESIS TYPE-II RESULTS IN THE REPLACEMENT OF TYPE-II COLLAGES BY TYPE-I AND TYPE-III COLLAGENS IN CARTILAGE, The Journal of biological chemistry, 270(4), 1995, pp. 1747-1753
THE TYPE-I COLLAGEN PRO-ALPHA-1(I) COOH-TEMMINAL PROPEPTIDE N-LINKED OLIGOSACCHARIDE - FUNCTIONAL-ANALYSIS BY SITE-DIRECTED MUTAGENESIS
Authors: LAMANDE SR BATEMAN JF
Citation: Sr. Lamande et Jf. Bateman, THE TYPE-I COLLAGEN PRO-ALPHA-1(I) COOH-TEMMINAL PROPEPTIDE N-LINKED OLIGOSACCHARIDE - FUNCTIONAL-ANALYSIS BY SITE-DIRECTED MUTAGENESIS, The Journal of biological chemistry, 270(30), 1995, pp. 17858-17865
ENDOPLASMIC RETICULUM-MEDIATED QUALITY-CONTROL OF TYPE-I COLLAGEN PRODUCTION BY CELLS FROM OSTEOGENESIS IMPERFECTA PATIENTS WITH MUTATIONS IN THE PRO-ALPHA-1(I) CHAIN CARBOXYL-TERMINAL PROPEPTIDE WHICH IMPAIR SUBUNIT ASSEMBLY
Authors: LAMANDE SR CHESSLER SD GOLUB SB BYERS PH CHAN D COLE WG SILLENCE DO BATEMAN JF
Citation: Sr. Lamande et al., ENDOPLASMIC RETICULUM-MEDIATED QUALITY-CONTROL OF TYPE-I COLLAGEN PRODUCTION BY CELLS FROM OSTEOGENESIS IMPERFECTA PATIENTS WITH MUTATIONS IN THE PRO-ALPHA-1(I) CHAIN CARBOXYL-TERMINAL PROPEPTIDE WHICH IMPAIR SUBUNIT ASSEMBLY, The Journal of biological chemistry, 270(15), 1995, pp. 8642-8649
MYOCARDIAL-INFARCTION RESULTING FROM CORONARY-ARTERY DISSECTION IN ANADOLESCENT WITH EHLERS-DANLOS SYNDROME TYPE-IV DUE TO A TYPE-III COLLAGEN MUTATION
Authors: ADES LC WALTHAM RD CHIODO AA BATEMAN JF
Citation: Lc. Ades et al., MYOCARDIAL-INFARCTION RESULTING FROM CORONARY-ARTERY DISSECTION IN ANADOLESCENT WITH EHLERS-DANLOS SYNDROME TYPE-IV DUE TO A TYPE-III COLLAGEN MUTATION, British Heart Journal, 74(2), 1995, pp. 112-116
Risultati: 1-25 | 26-29