proline has been researched along with Cutis Laxa in 5 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (20.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (20.00) | 29.6817 |
| 2010's | 1 (20.00) | 24.3611 |
| 2020's | 2 (40.00) | 2.80 |
| Authors | Studies |
|---|---|
| Berardi, A; Bertucci, E; Cavalleri, F; Cinelli, G; Fischer-Zirnsak, B; Iughetti, L; Lugli, L; Riva, M; Rossi, C; Trevisani, V | 1 |
| Casero, RA; Colonna, MB; Edison, AS; Flanagan-Steet, H; Foley, JR; Jones, JR; Kocur, A; Lichty, A; Lyons, MJ; Mokashi, S; Moss, T; Skinner, C; Srikanth, S; Steet, R; Stewart, TM; Wood, T | 1 |
| Al Bughaili, M; Al-Gazali, L; Bahena, P; Byers, P; Callewaert, B; Choudhri, AF; Escande-Beillard, N; Fischer-Zirnsak, B; Ganesh, J; Kornak, U; Krüger, U; Lin, AE; Liu, J; Loh, A; Masri, A; Meierhofer, D; Mostafavi, R; Mundlos, S; Pajunen, L; Pivnick, EK; Rahikkala, E; Reichert, SL; Reversade, B; Robertson, SP; Robinson, PN; Sahai, I; Schwarze, U; Stolte-Dijkstra, I; Symoens, S; Tan, YX; van Ravenswaaij-Arts, C; Villarroel, CE; Wright, GD; Zemojtel, T | 1 |
| Bedard, K; Dubé, MP; Evans, SC; Ferguson, M; Guernsey, DL; Jiang, H; Ludman, M; Matsuoka, M; Nightingale, M; Orr, A; Provost, S; Rideout, AL; Samuels, ME | 1 |
| Hoefnagel, D; Pomeroy, J; Saxon, A; Wurster, D | 1 |
1 review(s) available for proline and Cutis Laxa
| Article | Year |
|---|---|
Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.
Topics: Cutis Laxa; Homozygote; Humans; Phenotype; Proline | 2022 |
4 other study(ies) available for proline and Cutis Laxa
| Article | Year |
|---|---|
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Topics: Amino Acids; Antioxidants; Cutis Laxa; Glutamic Acid; Humans; Ornithine; Proline | 2023 |
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Topics: Amino Acid Sequence; Base Sequence; Corneal Opacity; Cutis Laxa; Genes, Dominant; Humans; Intellectual Disability; Molecular Sequence Data; Mutation, Missense; Ornithine-Oxo-Acid Transaminase; Pedigree; Proline; Sequence Alignment; Sequence Analysis, DNA; Skin; Species Specificity | 2015 |
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
Topics: Amino Acid Sequence; Canada; Child; Cutis Laxa; delta-1-Pyrroline-5-Carboxylate Reductase; DNA Mutational Analysis; Female; Genes, Recessive; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Proline; Pyrroline Carboxylate Reductases | 2009 |
Congenital athetosis, mental deficiency, dwarfism and laxity of skin and ligaments.
Topics: Athetosis; Child; Cutis Laxa; Cytogenetics; Dwarfism; Growth Disorders; Humans; Intellectual Disability; Ligaments; Male; Proline | 1971 |