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Medical condition
Terminal complement pathway deficiency is a genetic condition affecting the complement membrane attack complex (MAC). It involves deficiencies of C5, C6
Terminal complement pathway deficiency
Terminal_complement_pathway_deficiency
Protein complex
haemoglobinuria Perforin Pore-forming toxin Terminal complement pathway deficiency Xie CB, Jane-Wit D, Pober JS (2020). "Complement Membrane Attack Complex: New Roles
Complement membrane attack complex
Complement_membrane_attack_complex
Aspect of the immune system
classical complement pathway is one of three pathways which activate the complement system, which is part of the immune system. The classical complement pathway
Classical_complement_pathway
Type of cascade reaction in the complement system
lectin pathway or MBL pathway is a type of cascade reaction in the complement system, similar in structure to the classical complement pathway, in that
Lectin_pathway
Medical diagnostic method
C3/C4 values but a decreased CH50, that can indicate a terminal complement pathway deficiency while if one has low C3 and CH50 values that can indicate
Total_complement_activity
Medical condition
in complement deficiencies.[medical citation needed] Among the possible complications are the following: Deficiencies of the terminal complement components
Complement_deficiency
Protein complex
classical complement pathway of the complement system. The antibodies IgM and all IgG subclasses except IgG4 are able to initiate the complement system.
Complement_component_1q
Protein found in humans
Complement C2 is a protein that in humans is encoded by the C2 gene. The protein encoded by this gene is part of the classical pathway of the complement
Complement_component_2
Part of the immune system that enhances the ability of antibodies and phagocytic cells
biochemical pathways activate the complement system: the classical complement pathway, the alternative complement pathway, and the lectin pathway. The alternative
Complement_system
Protein found in humans
the complement membrane attack complex. Deficiency is thought to cause Leiner's disease. Complement component 5 is the fifth component of complement, which
Complement_component_5
Protein found in humans
insert into the phospholipid bilayer of the pathogen. Terminal complement pathway deficiency Complement+C7 at the U.S. National Library of Medicine Medical
Complement_component_7
Protein-coding gene in the species Homo sapiens
encoded by the CFP (complement factor properdin) gene. Properdin and factor H are regulatory proteins in the alternative complement pathway. Properdin is an
Properdin
Protein found in humans
TF, Zeitz HJ, Gewurz H (November 1980). "Inherited deficiency of the ninth component of complement in man". Journal of Immunology. 125 (5): 2252–7. doi:10
Complement_component_9
Protein-coding gene in humans
Barone R, Blum L, Chase PH (1979). "Familial deficiency of two subunits of the first component of complement. C1r and C1s associated with a lupus erythematosus-like
Complement_component_1r
Mammalian protein found in humans
trypsin and the C1s subunit of the enzyme C1 involved in the classical complement pathway. Protease inactivation results as a consequence of trapping the protease
Antithrombin
Protein found in humans
Complement component 1s (EC 3.4.21.42, C1 esterase, activated complement C1s, complement C overbar 1r, C1s) is a protein involved in the complement system
Complement_component_1s
Overview of and topical guide to immunology
Innate immune system Complement system Classical complement pathway Mannan-binding lectin pathway Alternate complement pathway Complement membrane attack complex
Outline_of_immunology
Protein found in humans
effects of the alternative pathway of complement. A rare functional coding change, p.R1210C, in CFH results in a functional deficiency in factor H and leads
Factor_H
Protein found in humans
AH, Lachmann PJ, Walport MJ (September 1987). "Inherited deficiency of erythrocyte complement receptor type 1 does not cause susceptibility to systemic
Complement_receptor_1
Mammalian protein found in Homo sapiens
phagocytes. The complement system can be activated through three pathways: the classical pathway, the alternative pathway, and the lectin pathway. One way the
Mannan-binding_lectin
Essential nutrient found in citrus fruits and other foods
it is used to prevent and treat scurvy, a disease caused by vitamin C deficiency. Vitamin C may be taken by mouth or by intramuscular, subcutaneous or
Vitamin_C
Mammalian protein found in Homo sapiens
are the cause of nonspherocytic hemolytic anemia, and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological
Glucose-6-phosphate_isomerase
Mammalian protein found in humans
glycosylated, bearing both N- and O-glycans. N-terminal domain is especially heavily glycosylated. Deficiency of this protein is associated with hereditary
C1-inhibitor
Protein-coding gene in humans
complement system subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of
C1QA
Disease of blood and kidneys after bacterial infection
alternative complement pathway and also interferes with complement regulation by binding to complement factor H, an inhibitor of the complement system. Shiga
Hemolytic–uremic_syndrome
Vitamin K-dependent plasma glycoprotein synthesized in the liver
Protein S exists in two forms: a free form and a complex form bound to complement protein C4b-binding protein (C4BP). In humans, protein S is encoded by
Protein_S
Blood disease in which red blood cells are attacked by the immune system
blood cells by the complement system, a part of the body's innate immune system. This destructive process occurs due to deficiency of the red blood cell
Paroxysmal nocturnal hemoglobinuria
Paroxysmal_nocturnal_hemoglobinuria
Large group of transport proteins
notably, deficiency of the MAC inhibitor CD59 results in an overactivity of complement and Paroxysmal nocturnal hemoglobinuria. Perforin deficiency results
MACPF
Protein found in humans
Complement component 6 is a protein that in humans is encoded by the C6 gene. Complement component 6 is a protein involved in the complement system. It
Complement_component_6
Mammalian protein found in Homo sapiens
Griffin et al. first associated protein C deficiency with symptoms of venous thrombosis. Homozygous protein C deficiency and the consequent serious health effects
Protein_C
Biomarker for B cell lineage
different signal transduction pathways. While colligated with the BCR, the CD19/CD21 complex bound to the antigen-complement complex can decrease the threshold
CD19
Protein-coding gene in the species Homo sapiens
intragenic complementation. A Saccharomyces cerevisiae RAD52 mutant allele expressing a C-terminal truncated protein was found to complement other RAD52
RAD52
Protein-coding gene in the species Homo sapiens
were identified in one patient. cDNA complementation studies showed that the variants can cause complex 1 deficiency. The finding in this patient is consistent
NUBPL
Mammalian protein found in humans
increasingly adopted by the community of scientists working on the mTOR pathway to refer to the protein and in homage to the original discovery of the
MTOR
Protein-coding gene in the species Homo sapiens
ISBN 978-1-55581-319-2. "Entrez Gene: ERCC4 excision repair cross-complementing rodent repair deficiency, complementation group 4". Gregg SQ, Robinson AR, Niedernhofer LJ
ERCC4
Protein-coding gene in the species Homo sapiens
transcript variants encoding different isoforms have been identified. A deficiency of porphobilinogen synthase is usually acquired (rather than hereditary)
Delta-aminolevulinic acid dehydratase
Delta-aminolevulinic_acid_dehydratase
Phosphoglyceride attached to proteins
hydrophobic C-terminal sequence is then cleaved off and replaced by the GPI-anchor. As the protein processes through the secretory pathway, it is transferred
Glycosylphosphatidylinositol
Enzyme catalyzing transfer of phosphate groups onto specific substrates
regulation, cellular transport, secretory processes and many other cellular pathways, which makes them very important to physiology. Kinases mediate the transfer
Kinase
Mammalian protein found in Homo sapiens
non-canonical pathway, e.g. through simulation by oxidative stress, the dimer can be activated by the formation of disulfide bonds. The entire N-terminal domain
ATM_serine/threonine_kinase
Protein-coding gene in the species Homo sapiens
cloning, the gene was identified as the disease gene leading to combined deficiency of factor V-factor VIII, a rare, autosomal recessive disorder in which
LMAN1
Group of neural structures responsible for motivation and desire
of the reward system via glutamate pathways. The medial forebrain bundle, which is a set of many neural pathways that mediate brain stimulation reward
Reward_system
Protein found in humans
non-homologous end joining (NHEJ) pathway of DNA repair. It is also required for V(D)J recombination, which utilizes the NHEJ pathway to promote antigen diversity
Ku80
American immunologist
search for a function for Mac-1, which was shown to be a receptor for the complement component iC3b (CR3), which had been previously defined functionally but
Timothy_A._Springer
Protein
DNA repair protein XRCC1, also known as X-ray repair cross-complementing protein 1, is a protein that in humans is encoded by the XRCC1 gene. XRCC1 is
XRCC1
variation of folate-mediated one-carbon transfer pathway predicts susceptibility to choline deficiency in humans". Proceedings of the National Academy
MTHFD1
Membrane protein
to the protein via thioether linkages at cysteine residues near the C terminal of the protein. This prenylation of lipid chains to proteins facilitate
Lipid-anchored_protein
Enzyme involved in blood coagulation in humans
this N-terminal region. There are an estimated 30 people in the world that have been diagnosed with the congenital form of Factor II deficiency, which
Thrombin
Protein molecule receiving signals for a cell
integration allows the signal to be incorporated into another biochemical pathway. Receptor proteins can be classified by their location. Cell surface receptors
Receptor_(biochemistry)
One of several isotypes of antibody
several other physiological molecules: IgM can bind complement component C1 and activate the classical pathway, leading to opsonization of antigens and cytolysis
Immunoglobulin_M
Class of keto acid sugars
mannose-binding lectin.[citation needed] This prevents activation of complement. Sialic acid in the form of polysialic acid is an unusual posttranslational
Sialic_acid
Species of bacterium
itself against the complement system (or complement cascade), whose components are found with human serum. There are three different pathways that activate
Neisseria_gonorrhoeae
Gene known for its role in breast cancer
(September 1998). "The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression"
BRCA1
Mammalian protein found in Homo sapiens
asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth
COX10
Protein-coding gene in humans
ISBN 978-1-55581-319-2. "Entrez Gene: ERCC4 excision repair cross-complementing rodent repair deficiency, complementation group 4". Gregg SQ, Robinson AR, Niedernhofer LJ
ERCC1
Mammalian protein found in Homo sapiens
breaks (DSBs) and guanine quadruplexes (G4) through the Fanconi anemia (FA) pathway. Damage or depletion of BRIP1 has been associated with various cancers
BRIP1
Human chromosome
polycomb homolog 1 ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6 FAM107B: family with sequence similarity
Chromosome_10
Large plasma protein found in the blood
basic fibroblast growth factor, TGF-β, insulin, and IL-1β. No specific deficiency with associated disease has been recognized, and no disease state is attributed
Alpha-2-Macroglobulin
Mammalian protein found in Homo sapiens
tricarboxylic acid cycle. A deficiency of this enzyme is responsible for an inherited disorder of metabolism, methylmalonyl-CoA mutase deficiency, which is one of
Methylmalonyl-CoA_mutase
Superfamily of proteins with similar structures and diverse functions
The identification of the S and Z mutations responsible for the genetic deficiency and the subsequent sequence alignments of alpha1-antitrypsin and antithrombin
Serpin
Mammalian protein found in humans
separate chromosomes. Reaction catalyzed by DHFR. Tetrahydrofolate synthesis pathway. Found in all organisms, DHFR has a critical role in regulating the amount
Dihydrofolate_reductase
Type of immune cell
(reduced) expression of the RTE-related surface markers, such as CD31, PTK7, Complement Receptor 1 and 2 (CR1, CR2) and the production of interleukin 8 (IL-8)
T_helper_cell
Protein-coding gene in humans
contains three domains, an N-terminal DNA-binding domain, a central transcriptional activation domain and a C-terminal domain involved in transcriptional
MYB_(gene)
Transcription factor and coding gene in humans
change in the pathogen spectrum. STAT1 loss of function, therefore STAT1 deficiency can have many variants. There are two main genetic impairments that can
STAT1
Protein-coding gene in the species Homo sapiens
Biard DS, Boussin FD, et al. (September 2012). "Partial complementation of a DNA ligase I deficiency by DNA ligase III and its impact on cell survival and
DNA_ligase_3
Hypothesis that aging is caused by accumulated DNA damage
a striking correlation between the degree to which specific DNA repair pathways are compromised and the severity of accelerated aging, strongly suggesting
DNA_damage_theory_of_aging
Mammalian protein found in humans
underlying cause of methylcobalamin deficiency complementation group G, or methylcobalamin deficiency cblG-type. Deficiency or deregulation of the enzyme due
Methionine_synthase
Process by which cells build mitochondrial mass
biogenesis by phosphorylating and activating PGC-1α upon sensing an energy deficiency in muscle. In mice with reduced ATP/AMP ratios that would occur during
Mitochondrial_biogenesis
Protein(s) forming a major part of an organism's immune system
C1q, but IgA cannot, therefore IgA does not activate the classical complement pathway. Another role of the Fc region is to selectively distribute different
Antibody
Human retrovirus, cause of AIDS
the general press, the term GRID, which stood for gay-related immune deficiency, had been coined. The CDC, in search of a name and looking at the infected
HIV
Extracellular proteoglycan
the heparan sulfate chains on C- and N-terminal domains are the best-studied differences in the secretory pathway of perlecan. Chondroitin sulfate can be
Perlecan
Type of autoimmune arthritis
Goeldner I, de Messias-Reason IJ (2012). "Relevance of the lectin pathway of complement in rheumatic diseases". In Makowski G (ed.). Advances in Clinical
Rheumatoid_arthritis
Protein-coding gene in humans
results complement previous in vivo studies, which suggest that both protein misfolding and catalytic impairment may play a role in PGM1 deficiency. PGM1
PGM1
Enzyme in glutathione biosynthesis
(GCS), is the first enzyme of the cellular glutathione (GSH) biosynthetic pathway that catalyzes the chemical reaction: L-glutamate + L-cysteine + ATP ⇌
Glutamate–cysteine_ligase
Progressive neurodegenerative disease
of the substantia nigra. Levodopa administration reduces the dopamine deficiency in parkinsonism. Despite its efficacy, levodopa poses several challenges
Parkinson's_disease
Wakefulness-promoting medication
is also contraindicated in people with galactose intolerance, lactase deficiency, or glucose-galactose malabsorption (inherited conditions affecting the
Modafinil
Biological process
polymerase synthesizes the new strands by incorporating nucleotides that complement the nucleotides of the template strand. DNA replication occurs during
DNA_replication
Protein-coding gene in humans
et al. (May 2016). "Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation". Cell. 165 (4): 921–935
Granulin
contains mutations leading to defects in one or more gene products, these deficiencies could be compensated for by the other parental genome (which nevertheless
Evolutionary history of plants
Evolutionary_history_of_plants
Group of cytokine proteins
with MEKK3. These signaling pathways lead to activation of many transcription factors, such as NF-κB, AP-1, c-Jun N-terminal kinase (JNK) and p38 MAPK.
Interleukin-1_family
Protein found in humans
Mutations in the TAFAZZIN gene have been associated with mitochondrial deficiency, Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial
Tafazzin
Mammalian protein involved in glycogen production
human GBE gene was also isolated by a function complementation of the Saccharomyces cerevisiae GBE deficiency. From the isolated cDNA, the length of the gene
Glycogen_branching_enzyme
Family of glycoside hydrolase enzymes
elements of the active site. The amino-terminal sequence of β-galactosidase, the α-peptide involved in α-complementation, participates in a subunit interface
Β-Galactosidase
Protein-coding gene in the species Homo sapiens
catalyzes the first step in the dolichol-linked oligosaccharide pathway (also see Genetic pathway) for glycoprotein biosynthesis. This enzyme belongs to the
DPAGT1
Mammalian protein found in Homo sapiens
main way of infecting lymphocytes allegedly leading to Acquired Immune Deficiency Syndrome. GRCh38: Ensembl release 89: ENSG00000172270 – Ensembl, May 2017
Basigin
Type of white blood cell
mechanisms that underlie this process are controversial. Causes of T cell deficiency include lymphocytopenia of T cells and/or defects on function of individual
T_cell
Specialized technique associated with MRI
resonance spectroscopy is an analytical technique that can be used to complement the more common magnetic resonance imaging (MRI) in the characterization
In vivo magnetic resonance spectroscopy
In_vivo_magnetic_resonance_spectroscopy
Homodimeric protein enzyme
surgery, malnutrition, magnesium deficiency, or severe anemia Children with achondroplasia and congenital iodine deficiency Children after a severe episode
Alkaline_phosphatase
Range of genetic disorders which cause a person to appear to grow older faster
A; Jaspers, NG; Sarasin, A; et al. (2008). "Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome
Progeroid_syndromes
Protein-coding gene in the species Homo sapiens
is a DNA nuclease involved in multiple DNA double-strand break repair pathways, including homologous recombination, classical non-homologous end joining
MRE11A
Protein-coding gene in the species Homo sapiens
eat me") checkpoint molecule that is distinct from the CD47-SIRPα pathway. Deficiency or antagonism of PSGL-1 on cells (such as hematologic cancer cells)
P-selectin glycoprotein ligand-1
P-selectin_glycoprotein_ligand-1
Class of analgesic drug
association of opioid use with osteoporosis and bone fracture, due to deficiency in estradiol. It also may increase pain and thereby interfere with the
Opioid
Mammalian protein found in Homo sapiens
with high affinity to the vascular endothelium of graft and activate complement. This process result in neutrophils infiltration, hemorrhage, fibrin deposition
B-cell_activating_factor
Enzyme found in humans
triggers an antiviral interferon (IFN) response. Human cells with SKIV2L deficiency are shown to have a strong IFN signature suggestive of a chronic antiviral
Superkiller_complex_protein_2
Protein found in humans
been found to impact CSF1R signaling and cause osteoporosis. Estrogen deficiency causes osteoporosis by upregulating production of TNF-α by activated T
Colony stimulating factor 1 receptor
Colony_stimulating_factor_1_receptor
Post-translational carbohydrate modification of proteins
responses. As UDP-GlcNAc is the final product of the hexosamine biosynthetic pathway, which integrates amino acid, carbohydrate, fatty acid, and nucleotide
O-GlcNAc
Mammalian protein found in Homo sapiens
p53-mediated programmed cell death (apoptosis) pathway. Mutations in XPB and other related complementation groups, XPA-XPG, leads to a number of genetic
ERCC3
Protein-coding gene in the species Homo sapiens
thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. The complex of XPC-RAD23B is the initial damage recognition factor
RAD23B
Protein found in humans
Stamato TD (September 1990). "Human chromosome 5 complements the DNA double-strand break-repair deficiency and gamma-ray sensitivity of the XR-1 hamster
DNA_repair_protein_XRCC4
Language used to describe the human body
the complement system, a biochemical cascade that attacks the surfaces of foreign cells. This response is activated by the binding of complement proteins
Medical_terminology
Protein-coding gene in the species Homo sapiens
function as a linker region that segregates the N-terminal protein-binding domain from the C-terminal catalytic domain. The PLA2G6 gene encodes for a phospholipase
PLA2G6
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