|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that in two siblings with a novel LAL variant and mild phenotype of CESD, lovastatin decreased both serum lipid concentrations and hepatocellular lysosomal content.
|
9365051 |
1997 |
|
Antisocial behavior
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
We believe that SAL and LAL are good mouse models to study the development of antisocial behavior and will yield valuable and testable hypotheses with regard to the neurobiological and genetical architecture of antisocial behavior.
|
14574133 |
2003 |
|
Mental Depression
|
0.100 |
Biomarker
|
disease |
BEFREE |
We also suggest a method to obtain the optimal cut-offs of SF-36 to predict depressive disorders.Key points• Both SF-36 MCS and SF-36 PCS were negatively correlated with K-CESD-R and K-POMS depression.• Patients with SF-36 MCS ≤ 48.07 exhibited a significantly high relative risk (RR) for depressive disorders, compared with those without (RR 42.667).• Patients with SF-36 PCS ≤ 55.63 showed a significantly high RR depressive disorder, compared with those without (RR 13.619).
|
31312987 |
2019 |
|
Depressed mood
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
We also suggest a method to obtain the optimal cut-offs of SF-36 to predict depressive disorders.Key points• Both SF-36 MCS and SF-36 PCS were negatively correlated with K-CESD-R and K-POMS depression.• Patients with SF-36 MCS ≤ 48.07 exhibited a significantly high relative risk (RR) for depressive disorders, compared with those without (RR 42.667).• Patients with SF-36 PCS ≤ 55.63 showed a significantly high RR depressive disorder, compared with those without (RR 13.619).
|
31312987 |
2019 |
|
Liver Cirrhosis
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
We aimed to determine LAL activity in a cohort of NAFLD subjects and in a control group of hepatitis C virus (HCV)-infected patients, investigating the role of liver cirrhosis.
|
28587063 |
2017 |
|
Hepatitis C
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
We aimed to determine LAL activity in a cohort of NAFLD subjects and in a control group of hepatitis C virus (HCV)-infected patients, investigating the role of liver cirrhosis.
|
28587063 |
2017 |
|
Diarrhea and vomiting, symptom
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
WD has an estimated incidence of 1 in 500,000 live births and is the result of a complete loss of LAL and presents in infancy with vomiting, diarrhea, poor weight gain and hepatomegaly subsequently leading to death.
|
25345094 |
2014 |
|
Mental Depression
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using the Korean Longitudinal Study of Aging (KLoSA) database, Mini-Mental State Examination (MMSE) scores and Center for Epidemiologic Studies Depression Scale (CESD-10) indexes were used for measuring cognitive function and depression, respectively.
|
31817584 |
2019 |
|
Depressive disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using the Korean Longitudinal Study of Aging (KLoSA) database, Mini-Mental State Examination (MMSE) scores and Center for Epidemiologic Studies Depression Scale (CESD-10) indexes were used for measuring cognitive function and depression, respectively.
|
31817584 |
2019 |
|
Depressed mood
|
0.100 |
Biomarker
|
phenotype |
BEFREE |
Using the Korean Longitudinal Study of Aging (KLoSA) database, Mini-Mental State Examination (MMSE) scores and Center for Epidemiologic Studies Depression Scale (CESD-10) indexes were used for measuring cognitive function and depression, respectively.
|
31817584 |
2019 |
|
Apathy
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Using a 2 × 2 MANOVA with depression (CESD ≥ 16) and apathy (AES ≥ 34) as the independent variables and cognitive performance (i.e., verbal acquisition, short-term free recall, and long-term free recall) as the dependent variables, we found a main effect for apathy (F[3,134] = 2.98, p = .034), such that apathetic stroke patients (n = 24) performed significantly worse on verbal acquisition (F[1,136] = 6.44; p = .012), short-term free recall (F[1,136] = 7.86; p = .006), and long-term free recall (F[1,136] = 8.37; p = .004) than nonapathetic stroke patients (n = 116).
|
29788381 |
2019 |
|
Mental Depression
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using a 2 × 2 MANOVA with depression (CESD ≥ 16) and apathy (AES ≥ 34) as the independent variables and cognitive performance (i.e., verbal acquisition, short-term free recall, and long-term free recall) as the dependent variables, we found a main effect for apathy (F[3,134] = 2.98, p = .034), such that apathetic stroke patients (n = 24) performed significantly worse on verbal acquisition (F[1,136] = 6.44; p = .012), short-term free recall (F[1,136] = 7.86; p = .006), and long-term free recall (F[1,136] = 8.37; p = .004) than nonapathetic stroke patients (n = 116).
|
29788381 |
2019 |
|
Depressive disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Using a 2 × 2 MANOVA with depression (CESD ≥ 16) and apathy (AES ≥ 34) as the independent variables and cognitive performance (i.e., verbal acquisition, short-term free recall, and long-term free recall) as the dependent variables, we found a main effect for apathy (F[3,134] = 2.98, p = .034), such that apathetic stroke patients (n = 24) performed significantly worse on verbal acquisition (F[1,136] = 6.44; p = .012), short-term free recall (F[1,136] = 7.86; p = .006), and long-term free recall (F[1,136] = 8.37; p = .004) than nonapathetic stroke patients (n = 116).
|
29788381 |
2019 |
|
Depressed mood
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
Using a 2 × 2 MANOVA with depression (CESD ≥ 16) and apathy (AES ≥ 34) as the independent variables and cognitive performance (i.e., verbal acquisition, short-term free recall, and long-term free recall) as the dependent variables, we found a main effect for apathy (F[3,134] = 2.98, p = .034), such that apathetic stroke patients (n = 24) performed significantly worse on verbal acquisition (F[1,136] = 6.44; p = .012), short-term free recall (F[1,136] = 7.86; p = .006), and long-term free recall (F[1,136] = 8.37; p = .004) than nonapathetic stroke patients (n = 116).
|
29788381 |
2019 |
|
Alzheimer's Disease
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Using 286 patients with AD and 162 controls we analyzed several single nucleotide polymorphisms (SNPs) within LIPA, CH25H, and FLJ22476.
|
15465627 |
2004 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications.
|
23583223 |
2013 |
|
Peyronie Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Two senior surgeons (GH, LAL) describe their surgical technique in detail, and provide important aspects and tips one has to be aware of when performing a grafting technique in patients with PD.
|
28904897 |
2017 |
|
Depressive disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
Twenty-eight AAV patients (45.9%) had depressive disorders based on K-CESD-R ≥ 16.
|
31312987 |
2019 |
|
Hypertensive disease
|
0.020 |
Biomarker
|
group |
BEFREE |
Treatment of LAL-D with sebelipase alfa (LAL replacement enzyme) should be considered as the standard of treatment in all individuals diagnosed with LAL-D. Other ASCVD risk factors that may be present (hypertension, tobacco use, diabetes mellitus, etc.) should be managed appropriately, consistent with secondary prevention goals.
|
28197978 |
2017 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
Treatment of LAL-D with sebelipase alfa (LAL replacement enzyme) should be considered as the standard of treatment in all individuals diagnosed with LAL-D. Other ASCVD risk factors that may be present (hypertension, tobacco use, diabetes mellitus, etc.) should be managed appropriately, consistent with secondary prevention goals.
|
28197978 |
2017 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To identify the molecular basis of the different phenotypes we have characterised the LAL gene mutations in three new patients with LAL deficiency.
|
9684740 |
1998 |
|
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To estimate the prevalence of CESD in different populations, the frequencies of the c.894G>A mutation were determined in 10,000 LIPA alleles from healthy African-American, Asian, Caucasian, Hispanic, and Ashkenazi Jewish individuals from the greater New York metropolitan area and 6,578 LIPA alleles from African-American, Caucasian, and Hispanic subjects enrolled in the Dallas Heart Study.
|
23424026 |
2013 |
|
Cholesterol Ester Storage Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the bases of Wolman disease (WD) and cholesteryl ester storage disease (CESD) from the viewpoint of enzyme structure, we constructed a structural model of human lysosomal acid lipase (LAL) using molecular modeling software Modeller.
|
22138108 |
2012 |
|
Hypertensive disease
|
0.020 |
GeneticVariation
|
group |
BEFREE |
To determine whether this SNP affects insulin resistance syndrome associated with type 2 diabetes, we examined its effects on susceptibility to obesity, hyperlipidemia and hypertension in type 2 diabetic subjects and on susceptibility to type 2 diabetes by interaction with other frequent genes involved in lipid metabolism, namely, beta3-adrenergic receptor (b3AR) Trp64Arg, phosphodiesterase 3B (PDE3B) c.1389G>A or lysosomal acid lipase (LAL) Thr-6Pro.
|
12965109 |
2003 |
|
Hyperlipidemia
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
To determine whether this SNP affects insulin resistance syndrome associated with type 2 diabetes, we examined its effects on susceptibility to obesity, hyperlipidemia and hypertension in type 2 diabetic subjects and on susceptibility to type 2 diabetes by interaction with other frequent genes involved in lipid metabolism, namely, beta3-adrenergic receptor (b3AR) Trp64Arg, phosphodiesterase 3B (PDE3B) c.1389G>A or lysosomal acid lipase (LAL) Thr-6Pro.
|
12965109 |
2003 |