serine has been researched along with Nephritis, Hereditary 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.
Nephritis, Hereditary: A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
| Excerpt | Relevance | Reference |
|---|---|---|
| "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 Nephritis, Hereditary
| Article | Year |
|---|---|
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 |