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G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha 1(I) chain and alters folding of the N-terminal end of the helix
MOLECULAR GENETICS AND METABOLISM
Genetic risk factors for lumbar disk disease
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II
JOURNAL OF BIOLOGICAL CHEMISTRY
Osteogenesis imperfecta: Prospects for molecular therapeutics
MOLECULAR GENETICS AND METABOLISM
Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts
NUCLEIC ACIDS RESEARCH
Calcium kinetics in children with osteogenesis imperfecta type III and IV:Pre- and post-growth hormone therapy
CALCIFIED TISSUE INTERNATIONAL
Osteogenesis imperfecta
GENETICS OF OSTEOPOROSIS AND METABOLIC BONE DISEASE
Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV
BONE
A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene
MOLECULAR GENETICS AND METABOLISM
Evaluation of oral problems in an osteogenesis imperfecta population
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS
Osteogenesis imperfecta calls for caution
NATURE MEDICINE
Extension of phenotype associated with structural mutations in type T collagen: Siblings with juvenile osteoporosis have an alpha 2(I)Gly436 -> Arg substitution
JOURNAL OF BONE AND MINERAL RESEARCH
Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha 1(I) G349C substitution - Variability in phenotype in BrtlIV mice
JOURNAL OF BIOLOGICAL CHEMISTRY
3 NOVEL TYPE-I COLLAGEN MUTATIONS IN OSTEOGENESIS IMPERFECTA TYPE-IV PROBANDS ARE ASSOCIATED WITH DISCREPANCIES BETWEEN ELECTROPHORETIC MIGRATION OF OSTEOBLAST AND FIBROBLAST COLLAGEN
Human mutation
OSTEOBLASTS FROM 3 OI PROBANDS PERMIT GREATER INTRACELLULAR SURVIVAL AND SECRETION OF MUTANT COLLAGEN THAN DO FIBROBLASTS
Molecular biology of the cell
MUTANT COLLAGEN-SYNTHESIS, MATRIX INCORPORATION AND RETENTION BY CULTURED FIBROBLASTS AND OSTEOBLASTS FROM 2 OI TYPE-IV PROBANDS
Molecular biology of the cell
OSTEOGENESIS IMPERFECTA MURINE MODELS - USE OF THE CRE LOX RECOMBINATION SYSTEM TO CREATE THE FIRST KNOCK-IN OI MOUSE/
European journal of human genetics
RIBOZYME SUPPRESSION OF MUTANT TYPE-T COLLAGEN MESSENGER-RNA IN CULTURED OI FIBROBLASTS - DEVELOPMENT OF GENE-THERAPY FOR DOMINANT DISORDERS
Matrix biology
USE OF THE CRE LOX RECOMBINATION SYSTEM TO CREATE THE FIRST KNOCK-IN MURINE MODEL FOR OSTEOGENESIS IMPERFECTA/
Matrix biology
An alpha 2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of Osteogenesis Imperfecta
MATRIX BIOLOGY
CALCIUM KINETICS IN CHILDREN WITH OSTEOGENESIS-IMPERFECTA TYPE-III AND TYPE-IV - PREGROWTH AND POSTGROWTH HORMONE-THERAPY
The FASEB journal
OSTEOGENESIS IMPERFECTA - MANAGING BRITTLE BONES
The New England journal of medicine
NEW GENETIC-LOCI THAT CONTROL SUSCEPTIBILITY AND SYMPTOMS OF EXPERIMENTAL ALLERGIC ENCEPHALOMYELITIS IN INBRED MICE
The Journal of immunology (1950)
PHENOTYPIC COMPARISON OF AN OSTEOGENESIS IMPERFECTA TYPE-IV PROBAND WITH A DE-NOVO ALPHA-2(I) GLY922-]SER SUBSTITUTION IN TYPE-I COLLAGEN AND AN UNRELATED PATIENT WITH AN IDENTICAL MUTATION
Biochemical and molecular medicine
SYNTHESIS, SECRETION AND EXTRACELLULAR-MATRIX ANALYSIS OF MUTANT TYPE-I COLLAGEN PRODUCED BY CULTURED OSTEOBLASTS AND FIBROBLASTS FROM 2 TYPE-IV OI PROBANDS
Molecular biology of the cell
EFFECT OF GROWTH-HORMONE (GH) TREATMENT ON CALCIUM KINETICS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA (OI) TYPE-III AND TYPE-IV
The FASEB journal
EXPRESSION, SECRETION, AND MATRIX INCORPORATION OF MUTANT TYPE-I COLLAGEN SYNTHESIZED BY CULTURED OI OSTEOBLASTS
Journal of bone and mineral research
GROWTH-HORMONE TREATMENT TRIAL OF CHILDREN WITH TYPE-III AND TYPE-IV OSTEOGENESIS IMPERFECTA
Journal of bone and mineral research
CLEAVAGE OF COLLAGEN RNA TRANSCRIPTS BY HAMMERHEAD RIBOZYMES IN-VITROIS MUTATION-SPECIFIC AND SHOWS COMPETITIVE-BINDING EFFECTS
Nucleic acids research
OSTEOGENESIS IMPERFECTA REHABILITATION AND PROSPECTS FOR GENE-THERAPY
JAMA, the journal of the American Medical Association
PREVENTION OF EXPERIMENTAL ALLERGIC ENCEPHALOMYELITIS BY TARGETING NITRIC-OXIDE AND PEROXYNITRITE - IMPLICATIONS FOR THE TREATMENT OF MULTIPLE-SCLEROSIS
Proceedings of the National Academy of Sciences of the United Statesof America
BONE-MARROW TRANSPLANTATION (BMT) TO CORRECT THE MESENCHYMAL DEFECT OF CHILDREN WITH OSTEOGENESIS IMPERFECTA
Blood
THE DYNAMIC DEFORMATION SEQUENCE OF BASILAR INVAGINATION IN OSTEOGENESIS IMPERFECTA
American journal of human genetics
CRE-MEDIATED SITE-SPECIFIC RECOMBINATION IN THE MURINE COL1A1 GENE - GENERATION OF A CONDITIONAL MURINE MODEL FOR OSTEOGENESIS IMPERFECTA
American journal of human genetics
EXTENSION OF PHENOTYPE ASSOCIATED WITH STRUCTURAL MUTATIONS IN TYPE-ICOLLAGEN - SIBLINGS WITH JUVENILE OSTEOPOROSIS HAVE AN ALPHA-2(I)GLY436-]ARG SUBSTITUTION
American journal of human genetics
METABOLISM OF MUTANT TYPE-I COLLAGEN DIFFERS IN OSTEOBLASTS AND FIBROBLASTS FROM 2 TYPE-IV O1 PROBANDS
American journal of human genetics
SUPPRESSION OF MUTANT TYPE-I COLLAGEN MESSENGER-RNA BY HAMMERHEAD RIBOZYMES IN CULTURED SKIN FIBROBLASTS
American journal of human genetics
GROWTH-HORMONE TREATMENT TRIAL OF CHILDREN WITH TYPE-III AND TYPE-IV OSTEOGENESIS IMPERFECTA
American journal of human genetics
COMBINED EFFECT OF A NULL ALLELE AND A NONCOLLAGENOUS INSERTION IN COL1A1 MESSENGER-RNA IS RESPONSIBLE FOR THE SEVERE PHENOTYPE IN A FAMILYAFFECTED BY OSTEOGENESIS IMPERFECTA
Matrix biology
HAMMERHEAD RIBOZYMES ACHIEVE ALLELE-SPECIFIC CLEAVAGE OF COLLAGEN MESSENGER-RNA IN-VITRO FROM PATIENTS AFFECTED BY OSTEOGENESIS IMPERFECT
Matrix biology
UNUSUAL ELECTROPHORETIC MOBILITY OF ALPHA-2(I) COLLAGEN CHAIN CAUSED BY A GLY421 TO ASP SUBSTITUTION IN A LETHAL CASE OF OSTEOGENESIS IMPERFECTA
Matrix biology
EXPRESSION AND REGULATION OF TYPE-I COLLAGEN AND OTHER MATRIX COMPONENTS IN OSTEOGENESIS IMPERFECTA OSTEOBLASTS
Matrix biology
EXPRESSION AND REGULATION OF TYPE-I COLLAGEN AND OTHER MATRIX COMPONENTS IN OSTEOGENESIS IMPERFECTA OSTEOBLASTS
Journal of bone and mineral research
RIBOZYMES - STRUCTURE, FUNCTION AND POTENTIAL THERAPY FOR DOMINANT GENETIC-DISORDERS
Annals of medicine
ALTERNATIVE SPLICING CAUSED BY A LARGE DELETION IN COL1A1 GENE IS RESPONSIBLE FOR A SEVERE CASE OF OSTEOGENESIS IMPERFECTA TYPE-III
Pediatric research
HAMMERHEAD RIBOZYMES ACHIEVE ALLELE-SPECIFIC CLEAVAGE OF COLLAGEN MESSENGER-RNA IN-VITRO FROM PATIENTS AFFECTED BY OSTEOGENESIS IMPERFECTA
Pediatric research
A CD4-CDR3 PEPTIDE ANALOG INHIBITS BOTH PRIMARY AND SECONDARY AUTOREACTIVE CD4(-CELL RESPONSES IN EXPERIMENTAL ALLERGIC ENCEPHALOMYELITIS()T)
The Journal of immunology
ANTISENSE OLIGODEOXYNUCLEOTIDES SELECTIVELY SUPPRESS EXPRESSION OF THE MUTANT ALPHA-2(I) COLLAGEN ALLELE IN TYPE-IV OSTEOGENESIS IMPERFECTAFIBROBLASTS - A MOLECULAR APPROACH TO THERAPEUTICS OF DOMINANT-NEGATIVE DISORDERS
The Journal of clinical investigation
ALTERNATIVE SPLICING IN COL1A1 MESSENGER-RNA LEADS TO A PARTIAL NULL ALLELE AND 2 IN-FRAME FORMS WITH STRUCTURAL DEFECTS IN NONLETHAL OSTEOGENESIS IMPERFECTA
The Journal of biological chemistry
INHIBITORY EFFECT OF A CD4-CDR3 PEPTIDE ANALOG ON GRAFT-VERSUS-HOST DISEASE ACROSS A MAJOR HISTOCOMPATIBILITY COMPLEX-HAPLOIDENTICAL BARRIER
Blood
A 3-HOUR MEASUREMENT TO EVALUATE BONE CALCIUM TURNOVER
Bone
STRUCTURE-BASED DESIGNED CD4 ANALOG INHIBITS EXPERIMENTAL ALLERGIC ENCEPHALOMYELITIS (EAE)
The FASEB journal
GASTROINTESTINAL COMPLAINTS IN INDIVIDUALS WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA (CHRIST-SIEMENS-TOURAINE SYNDROME)
Pediatric dermatology
ANTISENSE OLIGONUCLEOTIDES SELECTIVELY SUPPRESS PRODUCTION OF MUTANT ALPHA-2(I) COLLAGEN IN OSTEOGENESIS IMPERFECTA TYPE-IV FIBROBLASTS - AN APPROACH TO GENE-THERAPY FOR A DOMINANT DISORDER OF MATRIX STRUCTURAL PROTEIN
Pediatric research
CULTURED OSTEOBLASTS FROM OSTEOGENESIS IMPERFECTA PATIENTS SYNTHESIZECOLLAGEN WHICH IS ELECTROPHORETICALLY DISTINCT FROM PATIENTS FIBROBLAST COLLAGEN
Pediatric research
A NOVEL DELETION INSERTION MUTATION IN THE MESSENGER-RNA TRANSCRIBED FROM ONE ALPHA-1(I) COLLAGEN ALLELE IN FAMILY WITH DOMINANT TYPE-III OI AND GERMLINE MOSAICISM
Pediatric research
INHIBITORY, EFFECT OF A CD4-CDR3 PEPTIDE ANALOG GRAFT-VS-HOST DISEASEFOLLOWING ALLOGENEIC BONE-MARROW TRANSPLANTATION
Blood
SELECTIVE IN-VITRO RIBOZYME CLEAVAGE OF MUTANT AND NORMAL TYPE-I COLLAGEN RNA FROM A CASE OF TYPE-III OSTEOGENESIS IMPERFECTS
American journal of human genetics
EXCITON-PHONON INTERACTION IN CDSE AND CUCL POLAR SEMICONDUCTOR NANOSPHERES
Physical review. B, Condensed matter
USE OF ANTISENSE OLIGONUCLEOTIDES TO SELECTIVELY SUPPRESS PRODUCTION OF THE MUTANT ALPHA-2(I) CHAIN IN OSTEOGENESIS IMPERFECTA TYPE-IV FIBROBLASTS
Pediatric research
A RATIONALLY DESIGNED CD4 ANALOG INHIBITS EXPERIMENTAL ALLERGIC ENCEPHALOMYELITIS
Nature
A DE-NOVO G-]A MUTATION AT THE ALPHA-2(I) EXON 16 SPLICE DONOR SITE CAUSES SKIPPING OF EXON 16 IN THE CDNA OF ONE ALLELE OF AN OI TYPE-IV PROBAND(1)
Human mutation
INFLUENCE OF THE ELECTRON-PHONON INTERACTION ON A DONOR LIKE EXCITON IN A SEMICONDUCTOR MICROSPHERE
Solid state communications
COMMUNICATING HYDROCEPHALUS, BASILAR INVAGINATION, AND OTHER NEUROLOGIC FEATURES IN OSTEOGENESIS IMPERFECTA
Neurology
THE GROWTH-HORMONE AND SOMATOMEDIN AXIS IN SHORT CHILDREN WITH OSTEOGENESIS IMPERFECTA
The Journal of clinical endocrinology and metabolism
2 ADDITIONAL CASES OF OSTEOGENESIS IMPERFECTA WITH SUBSTITUTIONS FOR GLYCINE IN THE ALPHA-2(I) COLLAGEN CHAIN - A REGIONAL MODEL RELATING MUTATION LOCATION WITH PHENOTYPE
The Journal of biological chemistry
IDENTIFICATION OF AN IDENTICAL NON-LETHAL-ALPHA-1(I) MUTATION IN 2 UNRELATED FAMILIES WITH WIDE VARIABILITY OF OSTEOGENESIS IMPERFECTA PHENOTYPE
American journal of human genetics
USE OF ANTISENSE OLIGONUCLEOTIDES DIRECTED AT MESSENGER-RNA AND GENOMIC DNA TO SELECTIVELY SUPPRESS PRODUCTION OF THE MUTANT ALPHA-2(I) CHAIN IN OSTEOGENESIS IMPERFECTA TYPE-IV FIBROBLASTS
American journal of human genetics