serine has been researched along with Syndrome in 29 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.
Syndrome: A characteristic symptom complex.
| Excerpt | Relevance | Reference |
|---|---|---|
| " The other mutation, substituting serine for asparagine at codon 530 (Asn530Ser) of the extracellular loop of ENaC subunit, was found in a 25-year-old man with hypertension, hypokalemia, low plasma renin activity and low serum aldosterone levels." | 3.71 | Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit. ( Gautschi, I; Hannila-Handelberg, T; Hiltunen, TP; Kantola, I; Kontula, K; Petäjäniemi, N; Schild, L; Tikkanen, I; Virtamo, J, 2002) |
| "5% glycine solution causes a well known clinical and metabolic syndrome called TURP-syndrome." | 3.68 | [The intravascular transfer of glycine during percutaneous kidney surgery]. ( Antonini, A; Bellezza, M; Cathala, B; Fellahi, JL; Richard, JP; Thouvenot, JP, 1992) |
| "Therefore, we hypothesize that focal palmoplantar keratoderma in gap junction skin disease may be specifically associated with connexin trafficking defects as well as with mutations affecting its extracellular domains, thus broadening the spectrum of GJB2-associated diseases." | 1.35 | A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. ( de Zwart-Storm, EA; Martin, PE; Steijlen, PM; van Geel, M; van Neer, PA; van Steensel, MA, 2008) |
| "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) |
| "This syndrome is consistent with a novel mutation in the FBN1 gene." | 1.33 | Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. ( Allingham, RR; Challa, P; Freedman, SF; Hauser, MA; Luna, CC; McDonald, MT; Pericak-Vance, M; Yang, J, 2006) |
| "The observed constellation of microcephaly, deafness, cryptorchidism, developmental delay, hypertension, and bilateral pheochromocytoma in association with a VHL mutation A451G in a patient with negative family history has not previously been described in the literature." | 1.32 | Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. ( Assadi, F; Brackbill, EL, 2003) |
| "He does not display features of ectodermal dysplasia and did not suffer from serious infections with the exception of a relapsing Salmonella typhimurium infection." | 1.32 | The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. ( Bredius, R; Hoeve, MA; Janssen, R; Lankester, A; Ottenhoff, TH; ten Dam, M; van de Vosse, E; van der Burg, M; van Dissel, JT; van Dongen, J; van Tol, M; van Wengen, A; Weemaes, C, 2004) |
| "Liddle's syndrome is an autosomal dominant form of salt sensitive hypertension caused by mutations in the beta or gamma subunit of the epithelial sodium channel." | 1.30 | A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. ( Araki, M; Inoue, J; Iwaoka, T; Naomi, S; Takahama, K; Takamune, K; Tokunaga, H; Tomita, K; Yamaguchi, K, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 4 (13.79) | 18.7374 |
| 1990's | 4 (13.79) | 18.2507 |
| 2000's | 18 (62.07) | 29.6817 |
| 2010's | 2 (6.90) | 24.3611 |
| 2020's | 1 (3.45) | 2.80 |
| Authors | Studies |
|---|---|
| Fang, H | 1 |
| Xie, A | 1 |
| Du, M | 1 |
| Li, X | 1 |
| Yang, K | 1 |
| Fu, Y | 1 |
| Yuan, X | 1 |
| Fan, R | 1 |
| Yu, W | 1 |
| Zhou, Z | 1 |
| Sang, T | 1 |
| Nie, K | 1 |
| Li, J | 1 |
| Zhao, Q | 1 |
| Chen, Z | 1 |
| Yang, Y | 1 |
| Hong, C | 1 |
| Lyu, J | 1 |
| de Zwart-Storm, EA | 1 |
| van Geel, M | 1 |
| van Neer, PA | 1 |
| Steijlen, PM | 1 |
| Martin, PE | 1 |
| van Steensel, MA | 1 |
| Donkor, J | 1 |
| Zhang, P | 1 |
| Wong, S | 1 |
| O'Loughlin, L | 1 |
| Dewald, J | 1 |
| Kok, BP | 1 |
| Brindley, DN | 1 |
| Reue, K | 1 |
| Ali, A | 1 |
| Singh, SK | 1 |
| Raman, R | 1 |
| Tabatabaie, L | 1 |
| Klomp, LW | 2 |
| Berger, R | 1 |
| de Koning, TJ | 2 |
| Mayer, DE | 1 |
| Baal, C | 1 |
| Litschauer-Poursadrollah, M | 1 |
| Hemmer, W | 1 |
| Jarisch, R | 1 |
| Hiltunen, TP | 1 |
| Hannila-Handelberg, T | 1 |
| Petäjäniemi, N | 1 |
| Kantola, I | 1 |
| Tikkanen, I | 1 |
| Virtamo, J | 1 |
| Gautschi, I | 1 |
| Schild, L | 1 |
| Kontula, K | 1 |
| Assadi, F | 1 |
| Brackbill, EL | 1 |
| Borck, G | 1 |
| Roth, C | 1 |
| Martiné, U | 1 |
| Wildhardt, G | 1 |
| Pohlenz, J | 1 |
| Janssen, R | 1 |
| van Wengen, A | 1 |
| Hoeve, MA | 1 |
| ten Dam, M | 1 |
| van der Burg, M | 1 |
| van Dongen, J | 1 |
| van de Vosse, E | 1 |
| van Tol, M | 1 |
| Bredius, R | 1 |
| Ottenhoff, TH | 1 |
| Weemaes, C | 1 |
| van Dissel, JT | 1 |
| Lankester, A | 1 |
| Goldstine, JV | 1 |
| Nahas, S | 1 |
| Gamo, K | 1 |
| Gartler, SM | 1 |
| Hansen, RS | 1 |
| Roelfsema, JH | 1 |
| Gatti, RA | 2 |
| Marahrens, Y | 1 |
| Anderson, PJ | 1 |
| Netherway, DJ | 1 |
| Cox, TC | 1 |
| Roscioli, T | 1 |
| David, DJ | 1 |
| Morita, H | 1 |
| Imamura, A | 1 |
| Matsuo, N | 1 |
| Tatebayashi, K | 1 |
| Omoya, K | 1 |
| Takahashi, Y | 1 |
| Tsujino, S | 1 |
| Challa, P | 1 |
| Hauser, MA | 1 |
| Luna, CC | 1 |
| Freedman, SF | 1 |
| Pericak-Vance, M | 1 |
| Yang, J | 1 |
| McDonald, MT | 1 |
| Allingham, RR | 1 |
| Vernez, M | 1 |
| Hutter, P | 1 |
| Monnerat, C | 1 |
| Halkic, N | 1 |
| Gugerli, O | 1 |
| Bouzourene, H | 1 |
| Wang, J | 1 |
| Liu, J | 1 |
| Zhang, Q | 1 |
| Cho, HJ | 1 |
| Sung, DH | 1 |
| Ki, CS | 1 |
| Fonseca, R | 1 |
| Costa-Lima, MA | 1 |
| Cosentino, V | 1 |
| Orioli, IM | 1 |
| Heckenlively, J | 1 |
| Roach, P | 1 |
| Zick, Y | 1 |
| Formisano, P | 1 |
| Accili, D | 1 |
| Taylor, SI | 1 |
| Gorden, P | 1 |
| Teng, MN | 1 |
| Borrow, P | 1 |
| Oldstone, MB | 1 |
| de la Torre, JC | 1 |
| Inoue, J | 1 |
| Iwaoka, T | 1 |
| Tokunaga, H | 1 |
| Takamune, K | 1 |
| Naomi, S | 1 |
| Araki, M | 1 |
| Takahama, K | 1 |
| Yamaguchi, K | 1 |
| Tomita, K | 1 |
| Zhao, S | 1 |
| Weng, YC | 1 |
| Yuan, SS | 1 |
| Lin, YT | 1 |
| Hsu, HC | 1 |
| Lin, SC | 1 |
| Gerbino, E | 1 |
| Song, MH | 1 |
| Zdzienicka, MZ | 1 |
| Shay, JW | 1 |
| Ziv, Y | 1 |
| Shiloh, Y | 1 |
| Lee, EY | 1 |
| Wu, X | 1 |
| Ranganathan, V | 1 |
| Weisman, DS | 1 |
| Heine, WF | 1 |
| Ciccone, DN | 1 |
| O'Neill, TB | 1 |
| Crick, KE | 1 |
| Pierce, KA | 1 |
| Lane, WS | 1 |
| Rathbun, G | 1 |
| Livingston, DM | 1 |
| Weaver, DT | 1 |
| Bank, WJ | 1 |
| Pizer, L | 1 |
| Pfendner, W | 1 |
| Fellahi, JL | 1 |
| Richard, JP | 1 |
| Bellezza, M | 1 |
| Antonini, A | 1 |
| Thouvenot, JP | 1 |
| Cathala, B | 1 |
| Ushiyama, M | 1 |
| Ikeda, S | 1 |
| Yazawa, M | 1 |
| Yanagisawa, N | 1 |
| Takatsu, M | 1 |
| Ionasescu, V | 1 |
| Stegink, L | 1 |
| Mueller, S | 1 |
| Weinstein, M | 1 |
2 reviews available for serine and Syndrome
| Article | Year |
|---|---|
L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain; Brain Diseases, Metabolic, Inborn; Central Ner | 2010 |
Serine-deficiency syndromes.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; Carbohydrate | 2004 |
27 other studies available for serine and Syndrome
| Article | Year |
|---|---|
SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA.
Topics: Animals; Carboxylic Ester Hydrolases; Contracture; DNA, Mitochondrial; Hearing Loss, Sensorineural; | 2022 |
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness.
Topics: Adult; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Child, Preschool; Connexin 26; C | 2008 |
A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2.
Topics: Amino Acid Substitution; Anemia, Dyserythropoietic, Congenital; Animals; Cell Line; Dermatitis; Feve | 2009 |
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 |
Uncombable hair and atopic dermatitis in a case of trichodento-osseous syndrome.
Topics: Amino Acid Substitution; Child; Chromosome Aberrations; Chromosomes, Human, Pair 17; Dental Enamel H | 2010 |
Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit.
Topics: Adult; Amino Acid Sequence; Animals; Asparagine; Base Sequence; Epithelial Sodium Channels; Female; | 2002 |
Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.
Topics: Adrenal Gland Neoplasms; Amino Acid Substitution; Child; Cryptorchidism; Developmental Disabilities; | 2003 |
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
Topics: Adolescent; Amino Acid Substitution; Base Sequence; Carrier Proteins; Child; Child, Preschool; Femal | 2003 |
The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes.
Topics: Active Transport, Cell Nucleus; Adult; Alleles; B-Lymphocytes; Cell Division; Cell Nucleus; Child, P | 2004 |
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 |
Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?
Topics: Acrocephalosyndactylia; Adenine; Adolescent; Arginine; Child, Preschool; Craniofacial Dysostosis; Cr | 2006 |
MR imaging and 1H-MR spectroscopy of a case of van der Knaap disease.
Topics: Adult; Brain Diseases; Cysts; Dementia, Vascular; Humans; Leucine; Leukoencephalopathy, Progressive | 2006 |
Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.
Topics: Adult; Aged; Amino Acid Substitution; Child; Child, Preschool; Corneal Diseases; Cysteine; Exons; Fe | 2006 |
A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene.
Topics: Adenocarcinoma, Mucinous; Adenoma; Adult; Brain Neoplasms; Carcinoma; Cholangiocarcinoma; Colorectal | 2007 |
FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
Topics: Asian People; Blepharophimosis; Blepharoptosis; Cysteine; Cytosine; Eye Abnormalities; Eyelids; Fork | 2007 |
Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.
Topics: Adolescent; Adult; Amino Acid Substitution; DNA Mutational Analysis; Female; GTP-Binding Protein gam | 2007 |
Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.
Topics: Abnormalities, Multiple; Amino Acid Substitution; Base Sequence; Craniosynostoses; Cysteine; Humans; | 2008 |
Possible syndrome of high myopia with retinal degeneration, cataract, manic depression, and elevated plasma amino acids.
Topics: Aged; Amino Acids; Bipolar Disorder; Cataract; Female; Humans; Lysine; Male; Middle Aged; Myopia; Or | 1980 |
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 |
A single amino acid change in the glycoprotein of lymphocytic choriomeningitis virus is associated with the ability to cause growth hormone deficiency syndrome.
Topics: Animals; Cell Line; Cricetinae; Genetic Variation; Glycoproteins; Growth Disorders; Hypoglycemia; Ly | 1996 |
A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.
Topics: Adult; Alleles; Base Sequence; Codon; DNA; Epithelium; Female; Humans; Hypertension; Male; Mutagenes | 1998 |
Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products.
Topics: Ataxia Telangiectasia; Ataxia Telangiectasia Mutated Proteins; Cell Cycle Proteins; Cell Line; Chrom | 2000 |
ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response.
Topics: Ataxia Telangiectasia; Ataxia Telangiectasia Mutated Proteins; Catalysis; Cell Cycle Proteins; Cell | 2000 |
Glycine metabolism and spinal cord disorders.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Animals; Ataxia; Cats; Cells, Cultured; Chi | 1978 |
[The intravascular transfer of glycine during percutaneous kidney surgery].
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Female; Glycine; Hemodilution; Humans; Male; Middle Aged | 1992 |
[A case with acute pandysautonomia with aseptic meningitis--Pathophysiological and therapeutic study].
Topics: Acute Disease; Adult; Autonomic Nervous System Diseases; Droxidopa; Humans; Hypotension, Orthostatic | 1987 |
Amino acid abnormality in Sjögren-Larsson syndrome.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; G | 1973 |