glycine has been researched along with Nephritis, Hereditary in 19 studies
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 |
|---|---|---|
| "The phenotype variety caused by glycine substitutions in alpha5(IV) chain in X-linked Alport syndrome (XLAS) prompted the complexity of structure changes of alpha5(IV) chain that was little to know now." | 7.72 | Effect of glycine substitutions on alpha5(IV) chain structure and structure-phenotype correlations in Alport syndrome. ( Bu, DF; Ding, J; Wang, F; Wang, YF, 2004) |
| "In a family with Alport syndrome, molecular analysis of the COL4A5 gene, which encodes the alpha 5(IV) chain of glomerular basement membrane collagen, revealed a GGA-->AGA change in exon 31, resulting in substitution of an arginine for a glycine in position 852 of the polypeptide chain, between interruptions 16 and 17 of the triple-helical collagenous domain." | 7.69 | A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient. ( Fukushima, T; Harano, K; Harano, T; Kawai, S; Nomura, S; Osawa, G; Shimizu, B; Wago, M, 1996) |
| "The phenotype variety caused by glycine substitutions in alpha5(IV) chain in X-linked Alport syndrome (XLAS) prompted the complexity of structure changes of alpha5(IV) chain that was little to know now." | 3.72 | Effect of glycine substitutions on alpha5(IV) chain structure and structure-phenotype correlations in Alport syndrome. ( Bu, DF; Ding, J; Wang, F; Wang, YF, 2004) |
| "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) |
| "In a family with Alport syndrome, molecular analysis of the COL4A5 gene, which encodes the alpha 5(IV) chain of glomerular basement membrane collagen, revealed a GGA-->AGA change in exon 31, resulting in substitution of an arginine for a glycine in position 852 of the polypeptide chain, between interruptions 16 and 17 of the triple-helical collagenous domain." | 3.69 | A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient. ( Fukushima, T; Harano, K; Harano, T; Kawai, S; Nomura, S; Osawa, G; Shimizu, B; Wago, M, 1996) |
| "Alport syndrome is the commonest inherited kidney disease and nearly half the pathogenic variants in the COL4A3-COL4A5 genes that cause Alport syndrome result in Gly substitutions." | 1.72 | Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome. ( Cerkauskaite, A; Chan, MMY; Deltas, C; Gale, DP; Gibson, JT; Hilbert, P; Huang, M; Lipska-Ziętkiewicz, BS; Rothe, H; Sadeghi-Alavijeh, O; Savige, J; Shenelli Croos Dabrera, M; Shukla, K; Storey, H, 2022) |
| "Patients with Alport syndrome (AS) exhibit blood and elevated protein levels in their urine, inflamed kidneys, and many other abnormalities." | 1.56 | Adverse effects of Alport syndrome-related Gly missense mutations on collagen type IV: Insights from molecular simulations and experiments. ( Buehler, MJ; Jung, GS; Kaplan, DL; Qiu, Y; Yeo, J; Zhang, YW, 2020) |
| "Alport syndrome is caused by mutations in type IV collagen alpha3, alpha4, and alpha5 genes." | 1.32 | Characterization of assembly of recombinant type IV collagen alpha3, alpha4, and alpha5 chains in transfected cell strains. ( Kobayashi, T; Uchiyama, M, 2003) |
| "Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively." | 1.30 | Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. ( Antignac, C; Boye, E; Cochat, P; Cohen-Solal, L; Forestier, L; Grünfeld, JP; Gubler, MC; Heidet, L; Mollet, G; Palcoux, JB, 1998) |
| "The X-linked form of Alport syndrome is associated with mutations in the COL4A5 gene encoding the alpha 5-chain of type IV collagen." | 1.29 | A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome. ( Heiskari, N; Hertz, JM; Jensen, UB; Tryggvason, K; Zhou, J, 1995) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (15.79) | 18.7374 |
| 1990's | 8 (42.11) | 18.2507 |
| 2000's | 4 (21.05) | 29.6817 |
| 2010's | 1 (5.26) | 24.3611 |
| 2020's | 3 (15.79) | 2.80 |
| Authors | Studies |
|---|---|
| Gibson, JT | 1 |
| Huang, M | 1 |
| Shenelli Croos Dabrera, M | 1 |
| Shukla, K | 1 |
| Rothe, H | 1 |
| Hilbert, P | 1 |
| Deltas, C | 1 |
| Storey, H | 1 |
| Lipska-Ziętkiewicz, BS | 1 |
| Chan, MMY | 1 |
| Sadeghi-Alavijeh, O | 1 |
| Gale, DP | 1 |
| Cerkauskaite, A | 1 |
| Savige, J | 1 |
| Hirabayashi, Y | 1 |
| Katayama, K | 1 |
| Mori, M | 1 |
| Matsuo, H | 1 |
| Fujimoto, M | 1 |
| Joh, K | 1 |
| Murata, T | 1 |
| Ito, M | 1 |
| Dohi, K | 1 |
| Yeo, J | 1 |
| Qiu, Y | 1 |
| Jung, GS | 1 |
| Zhang, YW | 1 |
| Buehler, MJ | 1 |
| Kaplan, DL | 1 |
| Bekheirnia, MR | 1 |
| Reed, B | 1 |
| Gregory, MC | 1 |
| McFann, K | 1 |
| Shamshirsaz, AA | 1 |
| Masoumi, A | 1 |
| Schrier, RW | 1 |
| KOPELMAN, H | 1 |
| ASATOOR, AM | 1 |
| MILNE, MD | 1 |
| Kobayashi, T | 1 |
| Uchiyama, M | 1 |
| Wang, YF | 1 |
| Ding, J | 2 |
| Wang, F | 1 |
| Bu, DF | 1 |
| Persikov, AV | 1 |
| Pillitteri, RJ | 1 |
| Amin, P | 1 |
| Schwarze, U | 1 |
| Byers, PH | 1 |
| Brodsky, B | 1 |
| Hou, P | 1 |
| Chen, Y | 1 |
| Li, G | 1 |
| Zhang, H | 1 |
| Oberley, TD | 1 |
| Gilbert, EF | 1 |
| Viseskul, C | 1 |
| Arya, S | 1 |
| Hertz, JM | 2 |
| Heiskari, N | 2 |
| Zhou, J | 4 |
| Jensen, UB | 1 |
| Tryggvason, K | 4 |
| Renieri, A | 3 |
| Meroni, M | 1 |
| Sessa, A | 2 |
| Battini, G | 1 |
| Serbelloni, P | 1 |
| Torri Tarelli, L | 1 |
| Seri, M | 2 |
| Galli, L | 2 |
| De Marchi, M | 3 |
| Bruttini, M | 1 |
| Zanelli, P | 1 |
| Neri, T | 1 |
| Rossetti, S | 1 |
| Turco, A | 1 |
| Gusmano, R | 1 |
| Massella, L | 2 |
| Banfi, G | 1 |
| Scolari, F | 1 |
| Rizzoni, G | 2 |
| Pignatti, PF | 1 |
| Savi, M | 1 |
| Ballabio, A | 1 |
| Kawai, S | 1 |
| Nomura, S | 1 |
| Harano, T | 1 |
| Harano, K | 1 |
| Fukushima, T | 1 |
| Wago, M | 1 |
| Shimizu, B | 1 |
| Osawa, G | 1 |
| Boye, E | 1 |
| Mollet, G | 1 |
| Forestier, L | 1 |
| Cohen-Solal, L | 1 |
| Heidet, L | 1 |
| Cochat, P | 1 |
| Grünfeld, JP | 2 |
| Palcoux, JB | 1 |
| Gubler, MC | 2 |
| Antignac, C | 2 |
| Krízek, V | 1 |
| Leinonen, A | 1 |
| Myers, JC | 1 |
| Pihlajaniemi, T | 1 |
| Knebelmann, B | 1 |
| Deschenes, G | 1 |
| Gros, F | 1 |
| Hors, MC | 1 |
1 review available for glycine and Nephritis, Hereditary
| Article | Year |
|---|---|
[Inborn errors of metabolism and their significance in urology and nephrology].
Topics: Acidosis, Renal Tubular; Alkaptonuria; Cystinuria; Diabetes Insipidus; Female; Glycine; Gout; Humans | 1976 |
18 other studies available for glycine and Nephritis, Hereditary
| Article | Year |
|---|---|
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Topics: Adult; Amino Acid Substitution; Autoantigens; Collagen Type IV; Databases, Genetic; Deafness; Female | 2022 |
Mutation Analysis of Thin Basement Membrane Nephropathy.
Topics: Basement Membrane; Collagen Type IV; Glomerulosclerosis, Focal Segmental; Glycine; Humans; Mutation; | 2022 |
Adverse effects of Alport syndrome-related Gly missense mutations on collagen type IV: Insights from molecular simulations and experiments.
Topics: Amino Acid Substitution; Collagen Type IV; Glycine; Humans; Mutation, Missense; Nephritis, Hereditar | 2020 |
Genotype-phenotype correlation in X-linked Alport syndrome.
Topics: Adult; Age of Onset; Collagen Type IV; Eye Diseases, Hereditary; Genotype; Glycine; Hearing Loss; Hu | 2010 |
HYPERPROLINAEMIA AND HEREDITARY NEPHRITIS.
Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Blood; Blood Chemical | 1964 |
Characterization of assembly of recombinant type IV collagen alpha3, alpha4, and alpha5 chains in transfected cell strains.
Topics: Amino Acid Substitution; Animals; Arginine; Autoantigens; Cell Line; Collagen Type IV; Cysteine; Gen | 2003 |
Effect of glycine substitutions on alpha5(IV) chain structure and structure-phenotype correlations in Alport syndrome.
Topics: Adolescent; Adult; Amino Acid Sequence; Amino Acid Substitution; Circular Dichroism; Collagen Type I | 2004 |
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.
Topics: Amino Acid Substitution; Amino Acids; Collagen; Collagen Diseases; Collagen Type I; Collagen Type I, | 2004 |
A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy.
Topics: Adenine; Adult; Aged; Asian People; Aspartic Acid; Autoantigens; Base Sequence; Collagen Type IV; Co | 2007 |
Culture of human glomeruli from patients with metabolic or genetic diseases.
Topics: Adult; Cells, Cultured; Child, Preschool; Glycine; Humans; Kidney Diseases; Kidney Glomerulus; Lipof | 1981 |
A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.
Topics: Adult; Base Sequence; Chromosome Deletion; Collagen; DNA; DNA Primers; Exons; Female; Fetal Diseases | 1995 |
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 |
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
Topics: Adult; Age of Onset; Amino Acid Sequence; Base Sequence; Codon; Collagen; DNA Primers; DNA Transposa | 1996 |
A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient.
Topics: Adult; Amino Acid Sequence; Arginine; Base Sequence; Basement Membrane; Child; Collagen; Deoxyribonu | 1996 |
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
Topics: Alanine; Amino Acid Substitution; Base Sequence; Basement Membrane; Collagen; DNA Primers; Exons; Fe | 1998 |
Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.
Topics: Adolescent; Adult; Amino Acid Sequence; Base Sequence; Collagen; Cysteine; Deoxyribonuclease HindIII | 1992 |
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
Topics: Base Sequence; Basement Membrane; Child; Collagen; DNA; DNA Mutational Analysis; Glutamates; Glutami | 1992 |
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
Topics: Adult; Aged; Amino Acid Sequence; Arginine; Base Sequence; Collagen; Deoxyribonuclease HpaII; Deoxyr | 1992 |