glycine has been researched along with Marfan Syndrome in 4 studies
Marfan Syndrome: An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.
| Excerpt | Relevance | Reference |
|---|---|---|
| "A substitution for a highly conserved non-glycine residue in the triple-helical domain of the pro alpha 2(I) collagen molecule was found in an individual with a variant of the Marfan syndrome." | 7.68 | A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome. ( Phillips, CL; Pinnell, SR; Shrago-Howe, AW; Wenstrup, RJ, 1990) |
| " A missense mutation that changes a highly conserved glycine to serine (G1127S) has been identified in cbEGF13, which results in a variant of Marfan syndrome, a connective tissue disease." | 3.71 | A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects. ( Cordle, JJ; Downing, AK; Handford, PA; Knott, V; Smallridge, RS; Whiteman, P, 2001) |
| "A substitution for a highly conserved non-glycine residue in the triple-helical domain of the pro alpha 2(I) collagen molecule was found in an individual with a variant of the Marfan syndrome." | 3.68 | A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome. ( Phillips, CL; Pinnell, SR; Shrago-Howe, AW; Wenstrup, RJ, 1990) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (25.00) | 18.2507 |
| 2000's | 2 (50.00) | 29.6817 |
| 2010's | 1 (25.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Watanabe, Y | 1 |
| Sakai, H | 1 |
| Nishimura, A | 1 |
| Miyake, N | 1 |
| Saitsu, H | 1 |
| Mizuguchi, T | 1 |
| Matsumoto, N | 1 |
| Khau Van Kien, P | 1 |
| Baux, D | 1 |
| Pallares-Ruiz, N | 1 |
| Baudoin, C | 1 |
| Plancke, A | 1 |
| Chassaing, N | 1 |
| Collignon, P | 1 |
| Drouin-Garraud, V | 1 |
| Hovnanian, A | 1 |
| Martin-Coignard, D | 1 |
| Collod-Béroud, G | 1 |
| Béroud, C | 1 |
| Roux, AF | 1 |
| Claustres, M | 1 |
| Whiteman, P | 1 |
| Smallridge, RS | 1 |
| Knott, V | 1 |
| Cordle, JJ | 1 |
| Downing, AK | 1 |
| Handford, PA | 1 |
| Phillips, CL | 1 |
| Shrago-Howe, AW | 1 |
| Pinnell, SR | 1 |
| Wenstrup, RJ | 1 |
4 other studies available for glycine and Marfan Syndrome
| Article | Year |
|---|---|
Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.
Topics: Arginine; Fathers; Glycine; Heterozygote; Humans; Male; Marfan Syndrome; Mosaicism; Mutation, Missen | 2008 |
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.
Topics: Adolescent; Adult; Aged; Calcium; Child; Epidermal Growth Factor; Female; Fibrillin-1; Fibrillins; G | 2010 |
A G1127S change in calcium-binding epidermal growth factor-like domain 13 of human fibrillin-1 causes short range conformational effects.
Topics: Amino Acid Sequence; Amino Acid Substitution; Binding Sites; Calcium; Cloning, Molecular; Conserved | 2001 |
A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome.
Topics: Adult; Base Sequence; Electrophoresis, Polyacrylamide Gel; Female; Glycine; Humans; Male; Marfan Syn | 1990 |