|
Aplasia Cutis Congenita
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
This study establishes that betel nut induces dyslipidemia through its alkaloid, arecoline by inhibition of AMPK (Thr-172) and activation of ACC (Ser-79) and highlights the therapeutic potential of metformin for treatment of betel-nut induced carcinogenesis, indicating the repurposing of the old drug in a new avenue.
|
31645006 |
2019 |
|
Aplasia Cutis Congenita
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Impaired energy signaling molecules AMPKα (Thr172), AMPKβ1/2 (Ser108), ACC (Ser79), and intracellular myocardial ATP depletion were observed in As-intoxicated animals.
|
31584213 |
2019 |
|
Aplasia Cutis Congenita
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
WT showed an increase in the phosphorylation of ACC (Ser79) 2-hours after exercise and return to normal after 24-hours of exercise (p-value < 0.05), kinects that was not observed in AdKO mice.
|
30903866 |
2019 |
|
Aplasia Cutis Congenita
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, EGCG dramatically increased expression of cAMP, P-PKA and P-CREBP, -AMPKα (Tr172), LKB1, P-ACC (Ser79) and lowered expression of CD36, SREBP-2, HMGCR, SREBP-1, GPAT in 1,3-DCP-treated mice livers.
|
30092300 |
2018 |
|
Aplasia Cutis Congenita
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Despite the wealth of studies, there has been a significant absence of studies recording from the gyrus of the ACC (ACCg).
|
28173997 |
2017 |
|
Aplasia Cutis Congenita
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
A pairwise comparison of normal, adrenocortical adenomas and ACC gene expression profiles with more than four-fold expression differences and an adjusted P-value < 0.05 revealed no major differences in normal versus adrenocortical adenoma whereas there are 808 and 1085, respectively, dysregulated genes between ACC versus adrenocortical adenoma and ACC versus normal.
|
26446994 |
2015 |
|
Aplasia Cutis Congenita
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay.
|
23785305 |
2013 |
|
Aplasia Cutis Congenita
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay.
|
23785305 |
2013 |
|
Aplasia Cutis Congenita
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay.
|
23785305 |
2013 |
|
Aplasia Cutis Congenita
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In an examination for a mutation of the beta-catenin gene, an activating mutation from ACC (Thr) to GCC (Ala) at codon 41 was found.
|
16131791 |
2006 |
|
Aplasia Cutis Congenita
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
On seeking a mutation of the beta catenin gene (CTNNB1), an activating mutation from ACC (Thr) to GCC (Ala) at codon 41 was found.
|
10655994 |
1999 |
|
Aplasia Cutis Congenita
|
0.800 |
Biomarker
|
disease |
BEFREE |
We found missense mutations of AAC (Asn) to AGC (Ser) at DCC codon 176 in one cell line and ACC (Thr) to ATC (Ile) at codon 1105 in one cell line and tumor, respectively; polymorphisms of CGA (Arg) to GGA (Gly) at codon 201 and TTT (Phe) to TTG (Leu) at codon 951 in most of the cell lines and tumors; and a silent mutation of GAG (Glu) to GAA (Glu) at codon 118 in four cell lines and five primary tumors.
|
9288786 |
1997 |
|
Aplasia Cutis Congenita
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, two single base transitions were identified by direct sequencing: [exon 6; codon 95; CGA (Arg) to TGA (stop)] and [exon 7; codon 172; ACC (Thr) to ACT (Thr)] in either transcript.
|
7479776 |
1995 |
|
Aplasia Cutis Congenita
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Aplasia Cutis Congenita
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|