Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
Valinemia
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
BCAT2 gene mutations can cause hypervalinemia and hyperleucine-isoleucinemia, which are associated with brain white matter lesions.
|
25653144 |
2015 |
Hyperleucine-Isoleucinemia
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
BCAT2 gene mutations can cause hypervalinemia and hyperleucine-isoleucinemia, which are associated with brain white matter lesions.
|
25653144 |
2015 |
Familial (FPAH)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We present genetic, clinical, and functional data in five individuals from four different families with homozygous or compound heterozygous BCAT2 mutations which were all detected following abnormal biochemical profile results or familial mutation segregation studies.
|
31177572 |
2019 |
Maple Syrup Urine Disease
|
0.520 |
Biomarker
|
disease |
CTD_human |
We conclude that BCAT-2 deficiency in the mouse can cause a disease that mimics human MSUD.
|
14755340 |
2004 |
Maple Syrup Urine Disease
|
0.520 |
Biomarker
|
disease |
BEFREE |
We conclude that BCAT-2 deficiency in the mouse can cause a disease that mimics human MSUD.
|
14755340 |
2004 |
Maple Syrup Urine Disease
|
0.520 |
Biomarker
|
disease |
MGD |
We conclude that BCAT-2 deficiency in the mouse can cause a disease that mimics human MSUD.
|
14755340 |
2004 |
Maple Syrup Urine Disease
|
0.520 |
Biomarker
|
disease |
BEFREE |
We demonstrate that BCAT2 deficiency has a recognizable biochemical profile with raised plasma BCAAs and, in contrast with MSUD, low-normal branched-chain keto acids (BCKAs) with undetectable l-allo-isoleucine.
|
31177572 |
2019 |
Precancerous Conditions
|
0.300 |
Biomarker
|
group |
CTD_human |
Multiple genes exhibit phenobarbital-induced constitutive active/androstane receptor-mediated DNA methylation changes during liver tumorigenesis and in liver tumors.
|
19233941 |
2009 |
Classic Maple Syrup Urine Disease
|
0.300 |
Biomarker
|
disease |
CTD_human |
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.
|
14755340 |
2004 |
Intermittent Maple Syrup Urine Disease
|
0.300 |
Biomarker
|
disease |
CTD_human |
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.
|
14755340 |
2004 |
Condition, Preneoplastic
|
0.300 |
Biomarker
|
disease |
CTD_human |
Multiple genes exhibit phenobarbital-induced constitutive active/androstane receptor-mediated DNA methylation changes during liver tumorigenesis and in liver tumors.
|
19233941 |
2009 |
Maple Syrup Urine Disease, Thiamine Responsive
|
0.300 |
Biomarker
|
disease |
CTD_human |
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.
|
14755340 |
2004 |
Intermediate Maple Syrup Urine Disease
|
0.300 |
Biomarker
|
disease |
CTD_human |
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.
|
14755340 |
2004 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.020 |
Biomarker
|
disease |
BEFREE |
Branched-chain amino-acid transaminase 2 (BCAT2) knockdown markedly impaired PDAC cell proliferation, but not HPDE cell proliferation, without significant alterations in glutamate or reactive oxygen species levels.
|
31784505 |
2019 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
0.020 |
Biomarker
|
disease |
BEFREE |
Loss of Bcat1 and Bcat2, the enzymes responsible for BCAA use, impairs NSCLC tumor formation, but these enzymes are not required for PDAC tumor formation, arguing that tissue of origin is an important determinant of how cancers satisfy their metabolic requirements.
|
27609895 |
2016 |
Malignant neoplasm of breast
|
0.010 |
Biomarker
|
disease |
BEFREE |
The suitability of silencing one of this enzymes (branched chain amino acid transaminase 2; BCAT2) with therapeutic effects was tested experimentally on the breast cancer cell line MCF-7 and primary cell culture of breast tumor (BCC), leading to lower cell proliferation.
|
28798381 |
2017 |
Non-Small Cell Lung Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Loss of Bcat1 and Bcat2, the enzymes responsible for BCAA use, impairs NSCLC tumor formation, but these enzymes are not required for PDAC tumor formation, arguing that tissue of origin is an important determinant of how cancers satisfy their metabolic requirements.
|
27609895 |
2016 |
Glioblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We report a multistage approach combining collisional activation and 193 nm ultraviolet photodissociation (UVPD) to characterize single amino acid variants of the human mitochondrial enzyme branched-chain amino acid transferase 2 (BCAT2), a protein implicated in chemotherapeutic resistance in glioblastoma tumors.
|
30016590 |
2018 |
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
We report a multistage approach combining collisional activation and 193 nm ultraviolet photodissociation (UVPD) to characterize single amino acid variants of the human mitochondrial enzyme branched-chain amino acid transferase 2 (BCAT2), a protein implicated in chemotherapeutic resistance in glioblastoma tumors.
|
30016590 |
2018 |
Obesity
|
0.010 |
Biomarker
|
disease |
BEFREE |
These preclinical results suggested that PP18, as a novel OXM-based dual GLP-1 and glucagon receptor agonist, may serve as a novel therapeutic approach to treat T2DM and obesity.
|
31389463 |
2019 |
Adult Glioblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We report a multistage approach combining collisional activation and 193 nm ultraviolet photodissociation (UVPD) to characterize single amino acid variants of the human mitochondrial enzyme branched-chain amino acid transferase 2 (BCAT2), a protein implicated in chemotherapeutic resistance in glioblastoma tumors.
|
30016590 |
2018 |
Childhood Glioblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We report a multistage approach combining collisional activation and 193 nm ultraviolet photodissociation (UVPD) to characterize single amino acid variants of the human mitochondrial enzyme branched-chain amino acid transferase 2 (BCAT2), a protein implicated in chemotherapeutic resistance in glioblastoma tumors.
|
30016590 |
2018 |
Carcinogenesis
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Another carcinogenesis-associated antigen is Lutheran or BCAM (basal cell adhesion molecule), a surface glycoprotein that acts as a receptor for the extracellular matrix protein, laminin.
|
23168236 |
2013 |