serine has been researched along with Alport 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.
Excerpt | Relevance | Reference |
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"In a large Italian family with adult-onset Alport syndrome, molecular analysis of the COL4A5 gene, which encodes the alpha 5(IV)-chain of glomerular basement membrane collagen, revealed a GGC-->AGC change in exon 38, resulting in substitution of a serine for a glycine in position 1143 of the polypeptide chain, between interruptions 19 and 20 of the triple helical domain." | 3.69 | Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain. ( Battini, G; De Marchi, M; Galli, L; Meroni, M; Renieri, A; Serbelloni, P; Seri, M; Sessa, A; Torri Tarelli, L, 1994) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 2 (100.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Renieri, A | 1 |
Meroni, M | 1 |
Sessa, A | 1 |
Battini, G | 1 |
Serbelloni, P | 1 |
Torri Tarelli, L | 1 |
Seri, M | 1 |
Galli, L | 1 |
De Marchi, M | 1 |
Zhou, J | 1 |
Barker, DF | 1 |
Hostikka, SL | 1 |
Gregory, MC | 1 |
Atkin, CL | 1 |
Tryggvason, K | 1 |
2 other studies available for serine and Alport Syndrome
Article | Year |
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Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain.
Topics: Adolescent; Adult; Aged; Base Sequence; Collagen; DNA; Female; Genotype; Glycine; Humans; Italy; Mal | 1994 |
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.
Topics: Bacterial Proteins; Base Sequence; Blotting, Southern; Collagen; Cysteine; Deoxyribonucleases, Type | 1991 |