|
Triglycerides measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population.
|
30108155 |
2018 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Disabling mutations in integrin-mediated cell signaling have been a major focus of interest over the last decade for patients affected with leukocyte adhesion deficiency-III (LAD-III).
|
25854317 |
2015 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Leukocyte adhesion deficiency 1 (LAD-1) is caused by defects in the β2 integrin subunit.
|
25514840 |
2015 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Kindlin-3 is a novel integrin activator in hematopoietic cells, and its deficiency leads to immune problems and severe bleeding, known as leukocyte adhesion deficiency III (LAD-III).
|
22564402 |
2012 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Kindlin-3 is a key lymphocyte function-associated antigen-1 (LFA-1) coactivator deleted in leukocyte adhesion deficiency-III (LAD-III).
|
21536861 |
2011 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Leukocyte adhesion deficiency 1 (LAD1) is an inherited disorder of neutrophil function.
|
21103413 |
2010 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3.
|
20216991 |
2010 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the disorder leukocyte adhesion deficiency III (LAD-III), integrins on platelets and leukocytes are expressed but fail to function and this leads to severe bleeding and infections at an early age.
|
20357244 |
2010 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These symptoms are consistent with but more severe than those reported for people with leukocyte adhesion deficiency III (LAD-III).
|
19234460 |
2009 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Leukocyte adhesion deficiency II (LAD II) belongs to a group of human congenital diseases in which the interactions of leukocytes with the vascular endothelium are strongly impaired.
|
16956371 |
2006 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Leukocyte adhesion deficiency II (LAD II) is a rare congenital disease caused by defective fucosylation leading to immuno-deficiency and psychomotor retardation.
|
16455955 |
2006 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Leukocyte adhesion deficiency II (LAD II) is a rare congenital disease which is caused by a defect in fucosylation of glycoconjugates.
|
12476046 |
2002 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Leukocyte adhesion deficiency II (LAD II) is characterized by the lack of fucosylated glycoconjugates, including selectin ligands, causing immunodeficiency and severe mental and growth retardation.
|
11326279 |
2001 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Leukocyte adhesion deficiency-1 (LAD-1) is the result of mutations in the beta2 subunit of the CD11/CD18 integrins, LFA-1, Mac-1, p150,95 and alphadbeta2.
|
10936446 |
2000 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Neutrophils isolated from a child with severe leukocyte adhesion deficiency 1 (LAD1) had a complete absence of expression of the CD11/CD18 beta2 integrin family of adhesion molecules, and were shown to be deficient in the in vitro adhesion and migration properties.
|
10564719 |
2000 |
|
Congenital leukocyte adherence deficiency
|
0.100 |
Biomarker
|
disease |
BEFREE |
Leukocyte adhesion deficiency or LAD is a congenital immunodeficiency disease characterized by recurrent bacterial infections in which the leukocytes from affected children fail to adhere to endothelial cells and migrate to the site of infection due to heterogeneous defects in the leukocyte integrin CD18 subunit.
|
9473215 |
1998 |
|
Diabetes Mellitus
|
0.070 |
Biomarker
|
group |
BEFREE |
Univariate analyses and predefined multivariable models were performed to determine the association between cardiac biomarkers (positive troponin [troponin ≥0.1 ng/mL] and LAD on transthoracic echocardiogram) and LVO adjusting for demographic factors (age and sex), risk factors (hypertension, diabetes, hyperlipidemia, history of stroke, congestive heart failure, coronary heart disease, and smoking), and atrial fibrillation (AF).
|
30898447 |
2019 |
|
Diabetes Mellitus
|
0.070 |
Biomarker
|
group |
BEFREE |
Patients with insulin deficient diabetes (CPEP<sub>low</sub>; n = 503) had higher HbA<sub>1c</sub> but otherwise lower cardiometabolic risk (lower BMI, BP, LDL, triacylglycerol, and ALT, and higher HDL) than both patients with latent autoimmune diabetes of adults (LADA defined as GAD<sub>pos</sub>CPEP<sub>high</sub>; n = 327) and patients with type 2 diabetes (GAD<sub>neg</sub>CPEP<sub>high</sub>; n = 3544).
|
28987750 |
2017 |
|
Diabetes Mellitus
|
0.070 |
GeneticVariation
|
group |
BEFREE |
In multilocus haplotype analysis, the association between frequencies of the haplotypes and AF risk was showed in AGT gene (rs7539020-rs3789678), compared 'TT' haplotype with the common 'TC' haplotype, adjusted for age, gender, LVEF, LVEDD, LAD and frequency of hypertension and diabetes.
|
25723521 |
2015 |
|
Diabetes Mellitus
|
0.070 |
GeneticVariation
|
group |
BEFREE |
We previously demonstrated the presence of two different populations among adult-onset autoimmune diabetes (latent autoimmume diabetes of adults; LADA) having high or low titre of antibodies to glutamic acid decarboxylase (GADA).
|
20546291 |
2010 |
|
Diabetes Mellitus
|
0.070 |
Biomarker
|
group |
BEFREE |
This study aims to explore whether diabetes mellitus from T1DM, through LADA, to T2DM presents a continuous spectrum in terms of HLA-DQ genetic background.
|
19120276 |
2008 |
|
Diabetes Mellitus
|
0.070 |
Biomarker
|
group |
BEFREE |
Although the exact pathogenesis of LADA is unknown and questions the role of autoimmunity in beta cell failure, the familial aggregation of these two forms of diabetes underlines the existence of common roots, i.e. immune mechanisms and genetic susceptibility.
|
17395515 |
2007 |
|
Diabetes Mellitus
|
0.070 |
Biomarker
|
group |
BEFREE |
Ninety-eight patients with type 1 diabetes (median age, 35 years; range, 9-89 years and 51 patients with latent autoimmune diabetes (LADA; median age, 48 years; range, 19-79 years) were compared with 113 healthy control patients (median age, 35 years; range, 19-65 years) to study the importance of MICA-microsatellite polymorphism and HLA-DR-DQ as genetic risk factors for diabetes.
|
12941547 |
2003 |
|
Diabetes
|
0.060 |
Biomarker
|
disease |
BEFREE |
Univariate analyses and predefined multivariable models were performed to determine the association between cardiac biomarkers (positive troponin [troponin ≥0.1 ng/mL] and LAD on transthoracic echocardiogram) and LVO adjusting for demographic factors (age and sex), risk factors (hypertension, diabetes, hyperlipidemia, history of stroke, congestive heart failure, coronary heart disease, and smoking), and atrial fibrillation (AF).
|
30898447 |
2019 |
|
Diabetes
|
0.060 |
Biomarker
|
disease |
BEFREE |
Patients with insulin deficient diabetes (CPEP<sub>low</sub>; n = 503) had higher HbA<sub>1c</sub> but otherwise lower cardiometabolic risk (lower BMI, BP, LDL, triacylglycerol, and ALT, and higher HDL) than both patients with latent autoimmune diabetes of adults (LADA defined as GAD<sub>pos</sub>CPEP<sub>high</sub>; n = 327) and patients with type 2 diabetes (GAD<sub>neg</sub>CPEP<sub>high</sub>; n = 3544).
|
28987750 |
2017 |