*  Factor XII heavy chain Research Products: Novus Biologicals
Browse our Factor XII heavy chain product catalog backed by our Guarantee+. ... Factor XII heavy chain products available through Novus Biologicals. ... It interacts with Genes CD93, MMP13, EPAS1, APP, and KLKB1. Defects in F12 lead to factor Xii deficiency (Hageman factor ... The F12 gene encodes a 615 amino acid long, 67 kDA serum glycoprotein coagulation factor XII that is eventually cleaved into ...
  https://www.novusbio.com/common-name/factor-xii-heavy-chain
*  F12 gene - Genetics Home Reference
Most of the mutations that cause factor XII deficiency change single amino acids, which alters the structure of factor XII. It ... Approximately 20 mutations in the F12 gene that cause factor XII deficiency have been identified. Factor XII deficiency is an ... Factor XII deficiency is typically discovered during routine blood testing because reduced levels of factor XII cause the blood ... The F12 gene provides instructions for making a protein called coagulation factor XII. Coagulation factors are a group of ...
  https://ghr.nlm.nih.gov/gene/F12
*  Physiological Increments in Plasma Homocysteine Induce Vascular Endothelial Dysfunction in Normal Human Subjects |...
Homocysteine concentrations are determined by genetic and nutritional factors; mutations in the genes for enzymes involved in ... Effects of Methionine-Free Amino Acid Mix and Fruit Juice Alone. After methionine-free amino acid mix or following fruit juice ... In children with cystathionine-β-synthase deficiency and severe hyperhomocysteinemia7 and in adults with moderate ... Methionine-free amino acid mix (Scientific Hospital Supplies) was used as an amino acid control to exclude a nonspecific effect ...
  http://atvb.ahajournals.org/content/19/12/2922
*  human karyotype by juanluis ruiz-tagle on Prezi
... gene for glaucoma F5: coagulation factor NGF: Nerve Growth Factor Chromosome 2: SLC40A1: solute carrier family COL5A2, COL4A4, ... Amino acid chains are folded into helices, zigzags, and other shapes to form proteins and are sometimes associated with other ... ERCC6: excision repair cross-complementing rodent repair deficiency UROS: uroporphyrinogen III synthase Chromosome 11 HBB: ... Diseases Single gene disorder A single gene disorder is the result of a single mutated gene. There are estimated to be over ...
  https://prezi.com/aycepyi_cgxa/human-karyotype/
*  Brain Sciences | Free Full-Text | The Neurotoxicity of Nitrous Oxide: The Facts and "Putative" Mechanisms | HTML
... with an MTHFR gene mutation, leading to an MTHFR enzyme deficiency [35]. This enzyme is important in the remethylation pathway ... Homocysteine, a sulphur-containing amino acid, does not appear to have any inherent function in the body except as a part of ... There are numerous risk factors for HHcy such as Alzheimer's disease [79], vitamin B12 deficiency [80], MTHFR gene mutation [81 ... Troen, A.M.; Shea-Budgell, M.; Shukitt-Hale, B.; Smith, D.E.; Selhub, J.; Rosenberg, I.H. B-vitamin deficiency causes ...
  http://www.mdpi.com/2076-3425/4/1/73/htm
*  Antibiotics/rotary endodontic courses by indian dental academy - English
Choice of AMA agent- patient factorsChoice of AMA agent- patient factors •• 1.Age : affect kinetics of drug.1.Age : affect ... mutations or gene transfertransfer •• Preventing Resistance to DrugsPreventing Resistance to Drugs •• Limit the use of ... Nutritional deficienciesNutritional deficiencies •• Masking of an infectionMasking of an infection •• ... They contain 7 amino cephalosporonic acid nucleus.They contain 7 amino cephalosporonic acid nucleus. •• Structurally they ...
  https://www.slideshare.net/indiandentalacademy/antibiotics-33545298
*  Factor XI - Wikipedia
... factor XII, factor XI, and factor IX). Factor XIa activates factor IX by selectively cleaving arg-ala and arg-val peptide bonds ... Like many other coagulation factors, it is a serine protease. In humans, Factor XI is encoded by the F11 gene. Factor XI (FXI) ... Fujikawa K, Chung DW, Hendrickson LE, Davie EW (May 1986). "Amino acid sequence of human factor XI, a blood coagulation factor ... allowing factor XI's protease activity on it. Deficiency of factor XI causes the rare hemophilia C; this mainly occurs in ...
  https://en.wikipedia.org/wiki/Factor_XI
*  GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity | Blood Journal
Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells. J Biol ... GATA factor activity is required for the trophoblast-specific transcriptional regulation of the mouse placental lactogen I gene ... Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1. Nature ... GATA2 belongs to a family of zinc finger transcription factors that are critical regulators of gene expression in hematopoietic ...
  http://www.bloodjournal.org/content/123/6/809?sso-checked=true
*  Tripeptidyl peptidase I - Wikipedia
The human gene has 13 exons and locates at the chromosome band 11p15. The human TPP1 is 61kDa in size and composed of 563 amino ... "Entrez Gene: TPP1 tripeptidyl peptidase I". "ACD ACD, shelterin complex subunit and telomerase recruitment factor [Homo sapiens ... Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES (Nov 2002). "[Tripeptidyl peptidase 1 deficiency in neuronal ceroid ... An isoform of 34.5kDa and 320 amino acids is generated by alternative splicing and a peptide fragment of 1-243 amino acid is ...
  https://en.wikipedia.org/wiki/Tripeptidyl_peptidase_I
*  Antievolution.org - Antievolution.org Discussion Board -Topic::Blood-clotting, evolution, and Behe
... factors (factor XI, factor XII, and prekallikrein) could not be identified. On the other hand, two genes were found for factor ... Factor XII deficiency has been reported to be a risk factor for thromboembolism as a result of inactivation of fibrinolysis. We ... production of the Hageman factor protein is prevented due to conversion of its gene to a pseudogene. The deduced amino acid ... factors (factor XI, factor XII, and prekallikrein) could not be identified. On the other hand, two genes were found for factor ...
  http://www.antievolution.org/cgi-bin/ikonboard/ikonboard.cgi?s=50aac4305b9bb811
*  Factor XII - Wikipedia
In humans, factor XII is encoded by the F12 gene. Human Factor XII is 596 amino acids long and consists of two chains, the ... The gene for factor XII is located on the tip of the long arm of the fifth chromosome (5q33-qter). Factor XII deficiency is a ... factor XII deficiency is totally asymptomatic and does not cause excess bleeding. Mice lacking the gene for factor XII, however ... Factor XII is part of the coagulation cascade and activates factor XI and prekallikrein in vitro. Factor XII itself is ...
  https://en.wikipedia.org/wiki/Factor_XII
*  2puq - Proteopedia, life in 3D
Two novel factor VII gene mutations in a Chinese family with factor VII deficiency. Br J Haematol. 2000 Oct;111(1):143-5. PMID: ... homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg(247) (CGC) in the catalytic ... factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa ... Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence ...
  http://proteopedia.org/wiki/index.php/2puq
*  Nutrition - Wikipedia
In the middle of twelve years of attempts to isolate them, Hopkins said in a 1906 lecture that "unsuspected dietetic factors," ... Boron deficiency (medicine) Chromium deficiency Iron deficiency (medicine) Iodine deficiency Magnesium deficiency (medicine) ... amino acids must be present in the diet. Excess amino acids are discarded, typically in the urine. For all animals, some amino ... In 1936, Eugene Floyd DuBois showed that work and school performance are related to caloric intake. In 1938, Erhard Fernholz ...
  https://en.wikipedia.org/wiki/Nutrition
*  A common mutation in the methylenetetrahydrofolate reductase gene and risk of coronary heart disease: results among U.S. men |...
... a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum ... Complete MTHFR deficiency is rare and results in hyperhomocysteinemia and premature cardiovascular disease (CVD) (5). A less ... 5-Methyltetrahydrofolate provides a methyl group for remethylation of the amino acid homocysteine to methionine, a vitamin B12- ... for nonfatal CHD with presence of one or more of the risk factors (244 cases). Additional adjustment for other factors, (body ...
  http://www.onlinejacc.org/content/32/2/353?sso=1&sso_redirect_count=1&access_token=
*  anemia facts, information, pictures | Encyclopedia.com articles about anemia
Anaemia often results from loss of blood or from a deficiency in the factors necessary to synthesize haemoglobin (e.g. iron) or ... Genes are chemical units in the body that tell cells what functions to perform. In people who have defective thalassemia genes ... Hemoglobin- An iron-containing pigment of red blood cells composed of four amino acid chains (alpha, beta, gamma, delta) that ... If the cause is a deficiency, for example iron deficiency, folic acid deficiency, B12 deficiency, or vitamin C deficiency, ...
  https://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/anemia
*  Heterogeneity in the Magnitude of the Insulin Gene Effect on HLA Risk in Type 1 Diabetes | Diabetes
Clayton D, McKeigue PM: Epidemiological methods for studying genes and environmental factors in complex diseases. Lancet358 : ... In the case of DRB1-DQB1, a correlation of polymorphic amino acids in the peptide-binding active site of the molecules with ... cell-dependent selective destruction of the insulin-producing pancreatic β-cells and subsequent irreversible insulin deficiency ... Gene-gene interaction modeling led to rejection of the additive model, whereas a multiplicative model showed a better, albeit ...
  http://diabetes.diabetesjournals.org/content/53/12/3286
*  Frontiers | Genetic Dissection of the Ity3 Locus Identifies a Role for Ncf2 Co-Expression Modules and Suggests Selp as a...
... as the gene underlying the Ity3.1 sublocus. Gene expression profiling indicated that the Ity3.1 sub-locus defined a global gene ... In the current paper, we provided further evidence supporting a role for Ncf2 (neutrophil cytosolic factor 2 a subunit of NADPH ... as the gene underlying the Ity3.1 sublocus. Gene expression profiling indicated that the Ity3.1 sub-locus defined a global gene ... Selp was identified as a strong candidate gene for the Ity3.2 sub-locus. ...
  https://www.frontiersin.org/articles/10.3389/fimmu.2014.00375/full
*  Faculty Briefs - 2009
"Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene ... Voloshchuk, N., J.K. Montclare (2009). "Incorporation of unnatural amino acids for synthetic biology." Molecular Biosystems 6(1 ... 2009). "Mechanical regulation of the proangiogenic factor CCN1/Cyur61 gene requires the combined activities of MRTF-A and CREB- ... "Early signaling by vascular endothelial growth factor and placental growth factor in human bone marrow-derived endothelial ...
  http://library.downstate.edu/resources/facultybriefs2009.htm
*  Search of: 'N-acetylglutamate synthase deficiency' OR 'Amino Acid Metabolism, Inborn Errors' - List Results - ClinicalTrials.gov
Study of the Association of Muscle Strength, Balance and Other Factors With Vitamin Levels Among Elderly Diabetics. *Muscle ... Increase of neurotransmitter metabolite HVA or HIAA levels in CSF one year after gene therapy. (Progress compare with baseline) ... Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency. *Aromatic L-amino Acid Decarboxylase Deficiency ... Deficiency Using AAV2-hAADC - An Expansion. *Aromatic Amino Acid Decarboxylase Deficiency ...
  https://clinicaltrials.gov/ct2/results?cond=%22N-acetylglutamate%20synthase%20deficiency%22%20OR%20%22Amino%20Acid%20Metabolism%2C%20Inborn%20Errors%22
*  Difference between revisions of "Lee:JC" - OpenWetWare
Hypoxia-inducible factor-1-dependent regulation of the multidrug resistance (MDR1) gene. Cancer Res. 2002 Jun 15;62(12):3387-94 ... Immunoproteasome Deficiency Modifies the Alternative Pathway of NFκB Signaling. Plos One 2013 (3/4/13, LA). ... Weaver YM, Hagenbuch B. Several conserved positively charged amino acids in OATP1B1 are involved in binding or translocation of ... An in vivo hypoxia metagene identifies the novel hypoxia inducible factor target gene SLCO1B3. Eur J Cancer. 2013 Jan 23. doi: ...
  https://openwetware.org/wiki/?title=Lee:JC&diff=691925&oldid=666399
*  Difference between revisions of "Lee:JC" - OpenWetWare
Hypoxia-inducible factor-1-dependent regulation of the multidrug resistance (MDR1) gene. Cancer Res. 2002 Jun 15;62(12):3387-94 ... A 14-amino acid sequence with a beta-turn structure is required for apical membrane sorting of the rat ileal bile acid ... Immunoproteasome Deficiency Modifies the Alternative Pathway of NFκB Signaling. Plos One 2013 (3/4/13, LA) ... An in vivo hypoxia metagene identifies the novel hypoxia inducible factor target gene SLCO1B3. Eur J Cancer. 2013 Jan 23. doi: ...
  https://openwetware.org/wiki/?title=Lee:JC&diff=782007&oldid=780555
*  A Noncanonical Mechanism of Nrf2 Activation by Autophagy Deficiency: Direct Interaction between Keap1 and p62
Transcription factor Nrf2 coordinately regulates a group of oxidative stress-inducible genes in macrophages. J. Biol. Chem. 275 ... We found that p62 has a similar ETGE motif between amino acids 349 and 354. When the amino acids were mutated to alanine ... Luciferase reporter gene assay. For the dual-luciferase reporter gene assay, HEK293 cells were transfected with the NQO1 ARE- ... and the activation of ARE-bearing genes. This newly identified mechanism of Nrf2 upregulation by autophagy deficiency adds ...
  http://pubmedcentralcanada.ca/pmcc/articles/PMC2897585/
*  L-methylfolate, Methylcobalamin, and N-acetylcysteine in the Treatment of Alzheimer's Disease-Related Cognitive Decline «...
... and mutations in its gene are a risk factor for AD.60 ... In vitro, deficiency of folate and vitamin B12 in cell culture ... Cleavage by γ--secretase of the remaining C--terminal end of APP leads to formation of Aβ peptide, comprising 39--43 amino ... Gene expression is partly attenuated by methylated DNA stretches-CpG islands. Hypomethylation induces gene transcription and ... A physiological response in man to prevent methyl group deficiency in kwashiorkor (methionine deficiency) and an explanation ...
  http://primarypsychiatry.com/l-methylfolate-methylcobalamin-and-n-acetylcysteine-in-the-treatment-of-alzheimeras-diseasearelated-cognitive-decline/
*  Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from...
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology. 65:1930-1935. doi: ... amino acids 4894-4895-4896 in mouse RYR1) (Zhao et al., 1999; Gao et al., 2000; Williams et al., 2001) located between the ... or type 1 calsequestrin deficiency (Dainese et al., 2009) that occurs in combination with an MH-triggering agent. Mechanisms ... or altered regulation by cytosolic factors (Mickelson and Louis, 1996). We proposed that leaky channel mutations increase MH ...
  http://jgp.rupress.org/content/early/2010/12/08/jgp.201010523
*  Adrenocortical hormone - Wikipedia
In a study by Cole et al., it was concluded that GABA-1 transcription factor activates the interleukin-6-gene. This gene codes ... Cole, J.T., Mitala, C. M., Kundu, S., Verma, A., Elkind, J.A., Nissim, I., & Cohen, A.S. (2010). Dietary branched chain amino ... Increased skin pigmentation is caused by a deficiency of the adrenocortical hormone hydrocortisone. Its normal behavior would ... The experience of psychological stress activates transcription factors that activate genes. ...
  https://en.wikipedia.org/wiki/Adrenocortical_hormone