serine and Xeroderma
serine has been researched along with Xeroderma 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.
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 Xeroderma
| 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 Xeroderma
| 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 |