serine has been researched along with Marfan Syndrome in 2 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
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 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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (50.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (50.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| SENO, N | 1 |
| MEYER, K | 1 |
| ANDERSON, B | 1 |
| HOFFMAN, P | 1 |
| Whiteman, P | 1 |
| Smallridge, RS | 1 |
| Knott, V | 1 |
| Cordle, JJ | 1 |
| Downing, AK | 1 |
| Handford, PA | 1 |
2 other studies available for serine and Marfan Syndrome
| Article | Year |
|---|---|
VARIATIONS IN KERATOSULFATES.
Topics: Animals; Arachnodactyly; Cartilage; Cattle; Chemical Phenomena; Chemical Precipitation; Chemistry; C | 1965 |
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 |