Molecular basis of osteogenesis imperfecta

A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.

Connective tissue research·1993

Repeated helical epitopes of defined amino acid sequence in human type III collagen identified by monoclonal antibodies.

Molecular immunology·1992

Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.

American journal of human genetics·1991

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

Nature·1991

Ehlers-Danlos syndrome type IV: diagnosis and therapy of associated bowel perforation.

The American journal of gastroenterology·1991

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome.

The New England journal of medicine·1990

Microblading Technique for Tattooing of "Hairstrokes" That Simulate Natural Hair: Eyebrow Tattooing and Correction of Medical Conditions.

Current problems in dermatology·2023

On the Use, Effectiveness, and Safety of Face Masks, Gloves, and Disinfectants to Prevent Transfer of Microbials between the Tattooist and the Customer: A Practical Review of Pros and Cons Including the Occupational Safety of the Tattooist.

Current problems in dermatology·2023

Linearity and Surface Anatomy of the Face: From Embryo to Senescence.

Current problems in dermatology·2023

Stretch Mark Treatment by Tattooing and Microneedling.

Current problems in dermatology·2023

Auxiliary Utensils in Cosmetic and Medical Tattoo Settings.

Current problems in dermatology·2023

Areola and Nipple Reconstruction in Breast Cancer and Other Conditions.

Current problems in dermatology·2023

Short-term quantitative ultrasonographic assessment of masseter muscle changes following botulinum toxin injection in patients with bruxism: A prospective pilot study.

Cranio : the journal of craniomandibular practice·2026

Efficacy of 810 nm low-level laser therapy on muscle regeneration after bupivacaine-induced myonecrosis in a rabbit model.

Lasers in medical science·2026

Infiltrating Biodegradable Microplastics in Zebrafish Blood: From Size Barrier Penetration to Risk.

Environmental science & technology·2026

Sublethal benzalkonium chloride exposure induced direct protection and cross-protection to freezing stress in Salmonella Typhimurium.

Letters in applied microbiology·2026

Engineered Extracellular Vesicles Delivering miR-30d-5p Alleviate Osteonecrosis of the Femoral Head.

ACS applied materials & interfaces·2026

Topical gene therapy for severe recessive dystrophic epidermolysis bullosa: clinical outcomes and multidisciplinary management in three patients treated with beremagene geperpavec (B-VEC) in Italy - a case series.

Drugs in context·2026

Related Experiment Videos

Molecular basis of osteogenesis imperfecta

Related Concept Videos

A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta.

Repeated helical epitopes of defined amino acid sequence in human type III collagen identified by monoclonal antibodies.

Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

Ehlers-Danlos syndrome type IV: diagnosis and therapy of associated bowel perforation.

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome.

Microblading Technique for Tattooing of "Hairstrokes" That Simulate Natural Hair: Eyebrow Tattooing and Correction of Medical Conditions.

On the Use, Effectiveness, and Safety of Face Masks, Gloves, and Disinfectants to Prevent Transfer of Microbials between the Tattooist and the Customer: A Practical Review of Pros and Cons Including the Occupational Safety of the Tattooist.

Linearity and Surface Anatomy of the Face: From Embryo to Senescence.

Stretch Mark Treatment by Tattooing and Microneedling.

Auxiliary Utensils in Cosmetic and Medical Tattoo Settings.

Areola and Nipple Reconstruction in Breast Cancer and Other Conditions.

Short-term quantitative ultrasonographic assessment of masseter muscle changes following botulinum toxin injection in patients with bruxism: A prospective pilot study.

Efficacy of 810 nm low-level laser therapy on muscle regeneration after bupivacaine-induced myonecrosis in a rabbit model.

Infiltrating Biodegradable Microplastics in Zebrafish Blood: From Size Barrier Penetration to Risk.

Sublethal benzalkonium chloride exposure induced direct protection and cross-protection to freezing stress in Salmonella Typhimurium.

Engineered Extracellular Vesicles Delivering miR-30d-5p Alleviate Osteonecrosis of the Femoral Head.

Topical gene therapy for severe recessive dystrophic epidermolysis bullosa: clinical outcomes and multidisciplinary management in three patients treated with beremagene geperpavec (B-VEC) in Italy - a case series.

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Molecular basis of osteogenesis imperfecta

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