glycine has been researched along with Ehlers-Danlos Syndrome in 18 studies
Ehlers-Danlos Syndrome: A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
| Excerpt | Relevance | Reference |
|---|---|---|
| "A proband with arterial ruptures and skin changes characteristic of the type IV variant of Ehlers-Danlos syndrome was found to have a single-base mutation in the type III procollagen gene, which converted the codon for glycine at amino acid position 1018 to a codon for aspartate." | 7.68 | Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. ( Kontusaari, S; Kuivaniemi, H; Pope, FM; Prockop, DJ; Stolle, C; Tromp, G, 1992) |
| "A proband with arterial ruptures and skin changes characteristic of the type IV variant of Ehlers-Danlos syndrome was found to have a single-base mutation in the type III procollagen gene, which converted the codon for glycine at amino acid position 1018 to a codon for aspartate." | 3.68 | Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. ( Kontusaari, S; Kuivaniemi, H; Pope, FM; Prockop, DJ; Stolle, C; Tromp, G, 1992) |
| "The mild form of osteogenesis imperfecta is caused by quantitative anomalies of Type I collagen." | 1.30 | The Nicholas Andry Award-1996. The molecular pathology of osteogenesis imperfecta. ( Cole, WG, 1997) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (11.11) | 18.7374 |
| 1990's | 12 (66.67) | 18.2507 |
| 2000's | 1 (5.56) | 29.6817 |
| 2010's | 2 (11.11) | 24.3611 |
| 2020's | 1 (5.56) | 2.80 |
| Authors | Studies |
|---|---|
| Gong, Z | 1 |
| Wang, H | 1 |
| Lin, Z | 1 |
| D'hondt, S | 1 |
| Guillemyn, B | 1 |
| Syx, D | 1 |
| Symoens, S | 1 |
| De Rycke, R | 1 |
| Vanhoutte, L | 1 |
| Toussaint, W | 1 |
| Lambrecht, BN | 1 |
| De Paepe, A | 4 |
| Keene, DR | 1 |
| Ishikawa, Y | 1 |
| Bächinger, HP | 1 |
| Janssens, S | 1 |
| Bertrand, MJM | 1 |
| Malfait, F | 1 |
| Ghali, N | 1 |
| Baker, D | 1 |
| Brady, AF | 1 |
| Burrows, N | 1 |
| Cervi, E | 1 |
| Cilliers, D | 1 |
| Frank, M | 1 |
| Germain, DP | 1 |
| Hulmes, DJS | 1 |
| Jacquemont, ML | 1 |
| Kannu, P | 1 |
| Lefroy, H | 1 |
| Legrand, A | 1 |
| Pope, FM | 8 |
| Robertson, L | 1 |
| Vandersteen, A | 1 |
| von Klemperer, K | 1 |
| Warburton, R | 1 |
| Whiteford, M | 1 |
| van Dijk, FS | 1 |
| Tromp, G | 7 |
| Nuytinck, L | 2 |
| Madhatheri, S | 1 |
| Kuivaniemi, H | 7 |
| Madhatheri, SL | 1 |
| Gustavson, KH | 1 |
| Renard, JP | 1 |
| Adriaens, F | 1 |
| Leroy, J | 1 |
| Narcisi, P | 4 |
| Wu, Y | 1 |
| Earley, JJ | 1 |
| Richards, AJ | 4 |
| Richards, A | 1 |
| Lloyd, J | 1 |
| Ferguson, C | 1 |
| Anderson, DW | 1 |
| Thakker-Varia, S | 1 |
| Stolle, CA | 1 |
| Cole, WG | 1 |
| Bateman, JF | 1 |
| Chiodo, AA | 1 |
| Weng, YM | 1 |
| Chan, D | 1 |
| Haan, E | 1 |
| Nishiyama, Y | 1 |
| Nejima, J | 1 |
| Watanabe, A | 1 |
| Kotani, E | 1 |
| Sakai, N | 1 |
| Hatamochi, A | 1 |
| Shinkai, H | 1 |
| Kiuchi, K | 1 |
| Tamura, K | 1 |
| Shimada, T | 1 |
| Takano, T | 1 |
| Katayama, Y | 1 |
| Ward, PN | 2 |
| Nicholls, AC | 1 |
| Lloyd, JC | 2 |
| Johnson, PH | 1 |
| Hopkinson, DA | 1 |
| Kontusaari, S | 1 |
| Stolle, C | 2 |
| Prockop, DJ | 3 |
| Shikata, H | 1 |
1 review available for glycine and Ehlers-Danlos Syndrome
| Article | Year |
|---|---|
Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review.
Topics: Child; Collagen Type V; Ehlers-Danlos Syndrome; Female; Glycine; Humans; Mutation, Missense | 2021 |
17 other studies available for glycine and Ehlers-Danlos Syndrome
| Article | Year |
|---|---|
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.
Topics: Amino Acid Substitution; Animals; Arteries; Collagen Type III; Disease Models, Animal; Ehlers-Danlos | 2018 |
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Topics: Adult; Aged; Collagen Type III; Ehlers-Danlos Syndrome; Female; Glutamic Acid; Glycine; High-Through | 2019 |
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Codon; DNA, Complementary; Ehlers-Danlos Syndrome; Femal | 1995 |
Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.
Topics: Adolescent; Adult; DNA Mutational Analysis; Ehlers-Danlos Syndrome; Female; Glutamates; Glutamic Aci | 1994 |
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV.
Topics: Adolescent; Amino Acid Sequence; Cells, Cultured; Collagen; Ehlers-Danlos Syndrome; Female; Fibrobla | 1994 |
Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.
Topics: Adult; Aortic Aneurysm, Abdominal; Aortic Dissection; Aortic Rupture; Base Sequence; DNA Mutational | 1993 |
The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV.
Topics: Arginine; Base Sequence; Collagen; Ehlers-Danlos Syndrome; Female; Glycine; Hot Temperature; Humans; | 1993 |
A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV.
Topics: Adult; Ehlers-Danlos Syndrome; Female; Glycine; Hot Temperature; Humans; Procollagen; Serine | 1997 |
The Nicholas Andry Award-1996. The molecular pathology of osteogenesis imperfecta.
Topics: 3T3 Cells; Animals; Arginine; Awards and Prizes; Bone and Bones; Cells, Cultured; Child; Collagen; C | 1997 |
A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.
Topics: Amino Acid Substitution; Arginine; Collagen; DNA Mutational Analysis; DNA, Complementary; Ehlers-Dan | 1998 |
Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.
Topics: Adult; Aneurysm; Aspartic Acid; Collagen; Coronary Disease; Ehlers-Danlos Syndrome; Emphysema; Glyci | 2001 |
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.
Topics: Amino Acid Sequence; Base Sequence; Blotting, Southern; Cells, Cultured; Cloning, Molecular; Collage | 1992 |
A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.
Topics: Adult; Base Sequence; Cloning, Molecular; Collagen; DNA; Ehlers-Danlos Syndrome; Electrophoresis; Fe | 1992 |
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
Topics: Adult; Aspartic Acid; Base Sequence; Ehlers-Danlos Syndrome; Female; Glycine; Humans; Molecular Sequ | 1992 |
Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.
Topics: Alleles; Amino Acid Sequence; Base Sequence; Collagen; DNA; DNA Mutational Analysis; Ehlers-Danlos S | 1991 |
A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.
Topics: Arginine; Base Sequence; Codon; DNA; Ehlers-Danlos Syndrome; Glycine; Humans; Molecular Sequence Dat | 1989 |
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.
Topics: Adult; Aspartic Acid; Base Sequence; Codon; DNA; DNA-Directed DNA Polymerase; Ehlers-Danlos Syndrome | 1989 |