serine and Ichthyosis
serine has been researched along with Ichthyosis in 13 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.
Ichthyosis: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.
Research Excerpts
| Excerpt | Relevance | Reference |
|---|---|---|
| "A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult." | 4.02 | Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. ( Brown, LH; Cowen, EW; Debs, S; Ferreira, CR; Gahl, WA; Groden, C; Kim, HJ; King, KA; King, MC; Lehky, T; Macnamara, E; Merideth, M; Owen, CM; Soldatos, A; Toro, C, 2021) |
| "Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end." | 3.85 | Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. ( Benke, PJ; Braffman, BH; El-Hattab, AW; Gassen, KLIV; Hidalgo, RJ; Jans, J; Sunbul, R, 2017) |
Research
Studies (13)
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (7.69) | 18.7374 |
| 1990's | 2 (15.38) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 6 (46.15) | 24.3611 |
| 2020's | 4 (30.77) | 2.80 |
Authors
| Authors | Studies |
|---|---|
| Sirr, A | 1 |
| Lo, RS | 1 |
| Cromie, GA | 1 |
| Scott, AC | 1 |
| Ashmead, J | 1 |
| Heyesus, M | 1 |
| Dudley, AM | 1 |
| Pan, Y | 1 |
| Feng, C | 1 |
| Wang, H | 1 |
| Lee, M | 1 |
| Tang, Z | 1 |
| Lin, Z | 1 |
| Abdelfattah, F | 1 |
| Kariminejad, A | 2 |
| Kahlert, AK | 1 |
| Morrison, PJ | 1 |
| Gumus, E | 1 |
| Mathews, KD | 1 |
| Darbro, BW | 1 |
| Amor, DJ | 1 |
| Walsh, M | 1 |
| Sznajer, Y | 1 |
| Weiß, L | 1 |
| Weidensee, S | 1 |
| Chitayat, D | 1 |
| Shannon, P | 1 |
| Bermejo-Sánchez, E | 1 |
| Riaño-Galán, I | 1 |
| Hayes, I | 1 |
| Poke, G | 1 |
| Rooryck, C | 1 |
| Pennamen, P | 1 |
| Khung-Savatovsky, S | 1 |
| Toutain, A | 1 |
| Vuillaume, ML | 1 |
| Ghaderi-Sohi, S | 2 |
| Kariminejad, MH | 2 |
| Weinert, S | 1 |
| Sticht, H | 1 |
| Zenker, M | 2 |
| Schanze, D | 2 |
| Debs, S | 1 |
| Ferreira, CR | 1 |
| Groden, C | 1 |
| Kim, HJ | 1 |
| King, KA | 1 |
| King, MC | 1 |
| Lehky, T | 1 |
| Cowen, EW | 1 |
| Brown, LH | 1 |
| Merideth, M | 1 |
| Owen, CM | 1 |
| Macnamara, E | 1 |
| Toro, C | 1 |
| Gahl, WA | 1 |
| Soldatos, A | 1 |
| de Koning, TJ | 2 |
| Shaheen, R | 2 |
| Rahbeeni, Z | 1 |
| Alhashem, A | 1 |
| Faqeih, E | 1 |
| Zhao, Q | 1 |
| Xiong, Y | 1 |
| Almoisheer, A | 1 |
| Al-Qattan, SM | 1 |
| Almadani, HA | 1 |
| Al-Onazi, N | 1 |
| Al-Baqawi, BS | 1 |
| Saleh, MA | 1 |
| Alkuraya, FS | 2 |
| Acuna-Hidalgo, R | 1 |
| Nordgren, A | 1 |
| Conner, P | 1 |
| Grigelioniene, G | 1 |
| Nilsson, D | 1 |
| Nordenskjöld, M | 1 |
| Wedell, A | 1 |
| Freyer, C | 1 |
| Wredenberg, A | 1 |
| Wieczorek, D | 1 |
| Gillessen-Kaesbach, G | 1 |
| Kayserili, H | 1 |
| Elcioglu, N | 1 |
| Goodarzi, P | 1 |
| Setayesh, H | 1 |
| van de Vorst, M | 1 |
| Steehouwer, M | 1 |
| Pfundt, R | 1 |
| Krabichler, B | 1 |
| Curry, C | 1 |
| MacKenzie, MG | 1 |
| Boycott, KM | 1 |
| Gilissen, C | 1 |
| Janecke, AR | 1 |
| Hoischen, A | 1 |
| El-Hattab, AW | 3 |
| Hertecant, J | 1 |
| Galadari, HI | 1 |
| Albaqawi, BS | 1 |
| Nabil, A | 1 |
| Benke, PJ | 1 |
| Hidalgo, RJ | 1 |
| Braffman, BH | 1 |
| Jans, J | 1 |
| Gassen, KLIV | 1 |
| Sunbul, R | 1 |
| Huber, M | 1 |
| Yee, VC | 1 |
| Burri, N | 1 |
| Vikerfors, E | 1 |
| Lavrijsen, AP | 1 |
| Paller, AS | 1 |
| Hohl, D | 1 |
| Poll-The, BT | 1 |
| Jaeken, J | 1 |
| Ionasescu, V | 1 |
| Stegink, L | 1 |
| Mueller, S | 1 |
| Weinstein, M | 1 |
Reviews
3 reviews available for serine and Ichthyosis
| Article | Year |
|---|---|
Amino acid synthesis deficiencies.
Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Asparagine; Bra | 2017 |
Serine biosynthesis and transport defects.
Topics: Abnormalities, Multiple; Amino Acid Transport System ASC; Brain Diseases; Child; Fetal Growth Retard | 2016 |
Continuing education in neurometabolic disorders--serine deficiency disorders.
Topics: Adolescent; Amino Acids; Child; Deficiency Diseases; Female; Glycine; Humans; Ichthyosis; Male; Meta | 1999 |
Other Studies
10 other studies available for serine and Ichthyosis
| Article | Year |
|---|---|
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.
Topics: Abnormalities, Multiple; Brain Diseases; Fetal Growth Retardation; Humans; Ichthyosis; Limb Deformit | 2020 |
Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization.
Topics: Adolescent; Amino Acid Sequence; Arginine; Biopsy; Cell Nucleus; Child, Preschool; DNA Mutational An | 2020 |
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Topics: Abnormalities, Multiple; Brain Diseases; Female; Fetal Growth Retardation; Fetus; Genetic Associatio | 2020 |
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Topics: Adult; Child, Preschool; Congenital Abnormalities; Exome Sequencing; Female; Fetal Growth Retardatio | 2021 |
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
Topics: Abnormalities, Multiple; Alleles; Amino Acid Sequence; Animals; Brain Diseases; Carbohydrate Metabol | 2014 |
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Topics: Abnormalities, Multiple; Amino Acid Sequence; Brain Diseases; Consanguinity; Family; Female; Fetal G | 2014 |
On the phenotypic spectrum of serine biosynthesis defects.
Topics: Abnormalities, Multiple; Brain Diseases; Fetal Growth Retardation; Humans; Ichthyosis; Infant; Infan | 2016 |
Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.
Topics: Abnormalities, Multiple; Adolescent; Brain Diseases; Carbohydrate Metabolism, Inborn Errors; Child, | 2017 |
Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.
Topics: Arginine; Binding Sites; Factor XIII; Female; Genes, Recessive; Glycine; Humans; Ichthyosis; Keratin | 1997 |
Amino acid abnormality in Sjögren-Larsson syndrome.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; G | 1973 |