serine has been researched along with Abnormalities, Multiple in 15 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.
Abnormalities, Multiple: Congenital abnormalities that affect more than one organ or body structure.
| Excerpt | Relevance | Reference |
|---|---|---|
| "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) |
| "Beare-Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid-like features in some cases and cloverleaf skull in others, anogenital anomalies, and prominent umbilical stump." | 1.35 | Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. ( Cosentino, V; Costa-Lima, MA; Fonseca, R; Orioli, IM, 2008) |
| "Chloroquine treatment and other manipulations that produce chromatin defects in the absence of detectable double strand breaks also trigger ATM phosphorylation and the phosphorylation of p53 in primary human fibroblasts, while other downstream substrates of ATM that are involved in the repair of DNA double strand breaks remain unphosphorylated." | 1.33 | Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity. ( Gamo, K; Gartler, SM; Gatti, RA; Goldstine, JV; Hansen, RS; Marahrens, Y; Nahas, S; Roelfsema, JH, 2006) |
| "[1996: Am J Med Genet 66:138-143] as Pfeiffer syndrome type III with normal thumbs." | 1.30 | Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. ( Bartlett, SP; Gripp, KW; Katowitz, JA; Markowitz, RI; McDonald-McGinn, DM; Muenke, M; Stolle, CA; Zackai, EH, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (6.67) | 18.7374 |
| 1990's | 3 (20.00) | 18.2507 |
| 2000's | 3 (20.00) | 29.6817 |
| 2010's | 6 (40.00) | 24.3611 |
| 2020's | 2 (13.33) | 2.80 |
| Authors | Studies |
|---|---|
| Sirr, A | 1 |
| Lo, RS | 1 |
| Cromie, GA | 1 |
| Scott, AC | 1 |
| Ashmead, J | 1 |
| Heyesus, M | 1 |
| Dudley, AM | 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 |
| de Koning, TJ | 1 |
| 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 |
| Ali, A | 1 |
| Singh, SK | 1 |
| Raman, R | 1 |
| Goldstine, JV | 1 |
| Nahas, S | 1 |
| Gamo, K | 1 |
| Gartler, SM | 1 |
| Hansen, RS | 1 |
| Roelfsema, JH | 1 |
| Gatti, RA | 1 |
| Marahrens, Y | 1 |
| Fonseca, R | 1 |
| Costa-Lima, MA | 1 |
| Cosentino, V | 1 |
| Orioli, IM | 1 |
| Roach, P | 1 |
| Zick, Y | 1 |
| Formisano, P | 1 |
| Accili, D | 1 |
| Taylor, SI | 1 |
| Gorden, P | 1 |
| van Grunsven, EG | 1 |
| van Berkel, E | 1 |
| Ijlst, L | 1 |
| Vreken, P | 1 |
| de Klerk, JB | 1 |
| Adamski, J | 1 |
| Lemonde, H | 1 |
| Clayton, PT | 1 |
| Cuebas, DA | 1 |
| Wanders, RJ | 1 |
| Gripp, KW | 1 |
| Stolle, CA | 1 |
| McDonald-McGinn, DM | 1 |
| Markowitz, RI | 1 |
| Bartlett, SP | 1 |
| Katowitz, JA | 1 |
| Muenke, M | 1 |
| Zackai, EH | 1 |
| Sabater, J | 1 |
| Ferre, C | 1 |
| Antich, J | 1 |
2 reviews available for serine and Abnormalities, Multiple
| 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 |
13 other studies available for serine and Abnormalities, Multiple
| 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 |
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Topics: Abnormalities, Multiple; Brain Diseases; Female; Fetal Growth Retardation; Fetus; Genetic Associatio | 2020 |
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 |
Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India.
Topics: 3' Untranslated Regions; Abnormalities, Multiple; Adenine; Arginine; Cleft Lip; Cleft Palate; Cohort | 2009 |
Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity.
Topics: Abnormalities, Multiple; Androstadienes; Ataxia Telangiectasia Mutated Proteins; Cell Cycle; Cell Cy | 2006 |
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
Topics: Abnormalities, Multiple; Amino Acid Substitution; Base Sequence; Craniosynostoses; Cysteine; Humans; | 2008 |
A novel human insulin receptor gene mutation uniquely inhibits insulin binding without impairing posttranslational processing.
Topics: 3T3 Cells; Abnormalities, Multiple; Adult; Amino Acid Sequence; Animals; Base Sequence; Child; Codon | 1994 |
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
Topics: 17-Hydroxysteroid Dehydrogenases; 3-Hydroxyacyl CoA Dehydrogenases; Abnormalities, Multiple; Base Se | 1998 |
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Amino Acid Substitution; Cysteine; Elbow; Eye Abnor | 1998 |
Abnormal levels of aspartic acid, serine and cystine in the plasma in three cases of Rubinstein Taybi's syndrome.
Topics: Abnormalities, Multiple; Aspartic Acid; Chromatography, Ion Exchange; Cystine; Female; Humans; Intel | 1972 |