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IKZF1 (show IKZF1 Proteins) rs10235796 C allele, IKZF1 (show IKZF1 Proteins) rs6964969A>G, CDKN2A rs3731246 G>C, and CDKN2A rs3731246 C allele were signi fi cantly associated with Acute Lymphoblastic Leukemia in Yemenis of Arab-Asian descent. Borderline association found in IKZF1 (show IKZF1 Proteins) rs4132601 T>G variant. No associations found with IKZF1 (show IKZF1 Proteins) rs11978267 or rs7789635, DDC rs3779084; rs880028; rs7809758, CDKN2A rs3731217, CEBPE (show CEBPE Proteins) rs2239633; rs12434881
The data provide evidence for cis (show CISH Proteins)-acting, functional common polymorphisms in the DOPA decarboxylase gene in the human ventral striatum.
Human histidine decarboxylase (HDC (show HDC Proteins)) and dopa decarboxilase (DDC) are highly homologous enzymes responsible for the synthesis of biogenic amines (BA) like histamine, and serotonin and dopamine, respectively. This review summarizes the analogies and differences in their origin as well as their common pathophysiological scenarios. [review]
Newborn screening of AADC deficiency was achieved with a 100% positive-predictive rate. An association for gestational age could be further elucidated.
SNP rs10499695 located intronically in the gene DDC, (DOPA decarboxylase) is significantly associated with cognitive performance in diabetes 2.
Molecular characteristic and physiological role of DOPA-decarboxylase is reviewed.
We found that only the modified U1 snRNA (IVS-AAA (show APP Proteins)) that completely matched both the intronic and exonic U1 binding sequences of the mutated DDC gene could correct splicing errors of either the mutated human DDC minigene or the mouse artificial splicing construct in vitro
The results of this study showed that Lack of Association Between Polymorphisms in Dopa decarboxylase Genes With Childhood
The data showed that L-DOPA decarboxylase constitutes a highly promising molecular marker for renal cell carcinoma (show MOK Proteins).
gene study of 987 BPD cases and 1110 healthy controls found an association between BPD [ borderline personality disorder ]and single nucleotide polymorphism rs12718541 in the dopa decarboxylase gene
The unusual oxygen-consuming oxidative deamination reaction catalyzed by the pyridoxal 5'-phosphate (PLP (show PLP1 Proteins)) enzyme DOPA decarboxylase (DDC) was here investigated.
Loss of Ddc appears to result in similar phenotypes as that of ADCC deficiency, thus zebrafish could be a good model for investigating pathogenetic mechanisms of AADC deficiency in children.
We found that only the modified U1 snRNA (IVS-AAA (show AAAS Proteins)) that completely matched both the intronic and exonic U1 binding sequences of the mutated DDC gene could correct splicing errors of either the mutated human DDC minigene or the mouse artificial splicing construct in vitro
The data show that endothelial AADC plays an important role in cardiac synthesis of 5-HT and possibly in 5-HT-dependent regulation of nitric oxide generation.
Mash1 (show ASCL1 Proteins) plays an important role in regulating the expression of AADC in type III cells in taste buds.
evidence for PKGIalpha-dependent phosphorylation and activation of neuronal AAAD (show AADAC Proteins) in vitro, and introduce AAAD (show AADAC Proteins) as a putative PKGIalpha substrate.
Data suggest a possible participation of aromatic L-amino acid decarboxylase (AADC) in the regulation of catecholamine biosynthesis in stellate ganglia of repeatedly stressed mice.
Results suggest that AADC expression begins at early stages of taste bud cell differentiation, and biogenic amines may act on taste bud differentiation of tongue epithelial cells, and further may regulate innervation of taste bud progenitor cells.
analysis of Ddc redefines the imprinted Grb10 (show GRB10 Proteins) domain on mouse proximal chromosome 11 and identifies Ddc_exon1a as the first example of a heart-specific imprinted gene
the fact that renal DDC inversely correlated with renal sodium reabsorption suggest that renal and intestinal gender dimorphism in DDC could be related to sex-related differences in sodium balance observed between males and females
lowered expression of Atg6 (show BECN1 Proteins) or Pi3K59F in Ddc-Gal4 (show LGALS4 Proteins)-expressing neurons results in decreased longevity and associated age-dependent loss of locomotor ability. Inhibition of Atg6 (show BECN1 Proteins) or Pi3K59F together with overexpression of the sole pro-survival Bcl-2 (show BCL2 Proteins) Drosophila homolog Buffy in Ddc-Gal4 (show LGALS4 Proteins)-expressing neurons resulted in further decrease in the survival
epidermal Ddc induction at pupariation is under the control of an extended genomic region that contains both positive and negative regulatory elements
Broad-Complex protein is required for Ddc activation at eclosion in Drosophila
evidence for a wound response pathway that senses aseptic breaks in the barrier epidermis of Drosophila embryos; a minimal 472-bp Ddc wound response enhancer requires a Grh (show GNRH1 Proteins) protein binding site and the function of the grh (show GNRH1 Proteins) gene
The Ddc locus exhibits a complicated pattern of variation apparently due to several evolutionary forces.
The involvement of DDC in a new pathway involved in Drosophila immunity increases the levels of dopamine, which is metabolized to produce reactive quinones that exert an antimicrobial effect on invading bacteria.
Combinatorial expression of tyrosine hydroxylase (TH (show TH Proteins)), aromatic acid acid decarboxylase (AADC), and the brain-specific (show CALY Proteins) isoform of the vesicular monoamine transporter, VMAT2.
The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
, L-aromatic dopa decarboxylase
, aromatic-L-amino acid decarboxylase
, aromatic amino acid decarboxylase
, L-Dopa decarboxylase
, aromatic L-amino acid decarboxylase
, 3,4-Dihydroxyphenylalanine decarboxylase
, dopa decarboxylase
, dopamine decarboxylase
, transcription unit No. 3
, dopa decarboxylase (aromatic L-amino acid decarboxylase)
, Aromatic-L-amino-acid decarboxylase
, aromatic-L-amino-acid decarboxylase-like
, DOPA decarboxylase