|
Carotid Stenosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In white subjects, carotid artery stenosis was associated with significantly elevated total cholesterol and low density lipoprotein (p less than 0.01) but not with Sac I polymorphism.
|
1355620 |
1992 |
|
Carotid Stenosis
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In white subjects, carotid artery stenosis was associated with significantly elevated total cholesterol and LDL levels (P < .01) but not with Sac I polymorphism.
|
8249016 |
1993 |
|
Hypercholesterolemia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In white subjects, carotid artery stenosis was associated with significantly elevated total cholesterol and low density lipoprotein (p less than 0.01) but not with Sac I polymorphism.
|
1355620 |
1992 |
|
Hypercholesterolemia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In black subjects, Sac I polymorphism appears to identify individuals with significant carotid stenosis, a necessary precursor to atherothrombotic brain infarction, but not those with elevated total cholesterol or LDL and/or reduced HDL levels.
|
8249016 |
1993 |
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
In every individual with FDH, the mutation was associated with the Sac I+ polymorphism in the albumin gene, strongly suggesting a founder effect.
|
8048949 |
1994 |
|
Hyperthyroxinemia, Familial Dysalbuminemic
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
An intragenic Sac-1 polymorphic site was found in association with the specific FDH mutation, suggesting a founder effect.
|
12099390 |
2002 |
|
Brain Infarction
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that Sac I polymorphism may identify black subjects at increased risk for atherothrombotic brain infarctions.
|
1355620 |
1992 |
|
Brain Infarction
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that Sac I polymorphism may identify black subjects at increased risk for atherothrombotic brain infarctions.
|
8249016 |
1993 |
|
Rheumatoid Arthritis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
To examine the hypothesis that a hereditary factor linked to the immunoglobulin kappa constant segment (C kappa) contributes to risk of rheumatoid arthritis (RA), white persons with RA were examined for Sac I restriction site polymorphisms.
|
2497749 |
1989 |
|
Malignant neoplasm of breast
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
These results suggest that SAC1 expression and PI(4)P at the Golgi are important in tumor progression and metastasis and are potential prognostic markers of breast cancers.
|
27178239 |
2016 |
|
Hemophilia B
|
0.010 |
Biomarker
|
disease |
BEFREE |
In 22 Japanese families with hemophilia B, 18 families (81.8%) were heterozygous for at least one of these polymorphisms, whereas 11 (50%) were informative for the extragenic DXS99/Sac I RFLP which was previously reported as a useful gene marker for Japanese hemophilia B.
|
8560402 |
1995 |
|
Diabetes
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A restriction-fragment-length polymorphism (RFLP) detected with the human insulin-receptor cDNA and the enzyme Sac I has been reported to be associated with non-insulin-dependent diabetes mellitus (NIDDM) in White and Black populations and segregated with diabetes in two small pedigrees with maturity-onset diabetes of the young.
|
2566545 |
1989 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.010 |
Biomarker
|
disease |
BEFREE |
A restriction-fragment-length polymorphism (RFLP) detected with the human insulin-receptor cDNA and the enzyme Sac I has been reported to be associated with non-insulin-dependent diabetes mellitus (NIDDM) in White and Black populations and segregated with diabetes in two small pedigrees with maturity-onset diabetes of the young.
|
2566545 |
1989 |
|
leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here we report a case of a 3-year old boy bearing a novel MLL-rearrangement with the suppressor of actin mutations 1-like (SACM1L) gene in the absence of leukemia.
|
20553989 |
2010 |
|
Acute lymphocytic leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Bone marrow cells harboring the MLL-SACM1L rearrangement appeared during chemotherapy for acute lymphoblastic leukemia with hyperdiploidy and were continuously detected over 7 years without clonal expansion.
|
20553989 |
2010 |
|
Leukemia, T-Cell
|
0.010 |
Biomarker
|
disease |
BEFREE |
The digestion patterns with 3 restriction endonucleases, Sac I, Eco RI and PstI, of the proviruses integrated in T-lymphoid cell lines derived from the CSF of 4 HAM patients were similar to those of HTLV-1 from adult T-cell leukemia (ATL) patients.
|
2841247 |
1988 |
|
Adult T-Cell Lymphoma/Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
The digestion patterns with 3 restriction endonucleases, Sac I, Eco RI and PstI, of the proviruses integrated in T-lymphoid cell lines derived from the CSF of 4 HAM patients were similar to those of HTLV-1 from adult T-cell leukemia (ATL) patients.
|
2841247 |
1988 |
|
Hypocholesterolemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
OSBP and Sac1 co-localized at apparent ER-Golgi contact sites in response to 25-hydroxycholesterol (25OH), cholesterol depletion and p38 MAPK inhibitors.
|
28471037 |
2017 |
|
Alkalemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Furthermore, as increasing pH from 4 to 7, the Hg adsorption capacity of SAC1 decreased by 22% (i.e., 0.27 μg mg<sup>-1</sup>).
|
30384226 |
2019 |
|
Generalized seizures
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
|
23804563 |
2013 |
|
Maturity onset diabetes mellitus in young
|
0.010 |
Biomarker
|
disease |
BEFREE |
A restriction-fragment-length polymorphism (RFLP) detected with the human insulin-receptor cDNA and the enzyme Sac I has been reported to be associated with non-insulin-dependent diabetes mellitus (NIDDM) in White and Black populations and segregated with diabetes in two small pedigrees with maturity-onset diabetes of the young.
|
2566545 |
1989 |
|
Drug Resistant Epilepsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive inherited variants in SYNJ1 have previously been associated with two different neurological diseases: a recurrent homozygous missense variant (p.Arg258Gln) that abolishes Sac1 phosphatase activity was identified in three independent families with early onset parkinsonism, whereas a homozygous nonsense variant (p.Arg136*) causing a severe decrease of mRNA transcript was found in a single patient with intractable epilepsy and tau pathology.
|
27435091 |
2016 |
|
von Willebrand Disease, Type 3
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Linkage was also established in four families between the Sac I and two Taq I RFLPs and the inheritance of type III vWD.
|
1351407 |
1992 |
|
Childhood Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here we report a case of a 3-year old boy bearing a novel MLL-rearrangement with the suppressor of actin mutations 1-like (SACM1L) gene in the absence of leukemia.
|
20553989 |
2010 |
|
Coronary Artery Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A subset of 77 ASPs with positive sign of Logarithm of Odds (LOD) score showed significant linkage to CAD trait by multi-point analysis (LOD score 7.42, P < 0.001) and to Sac1 (LOD score 4.49) and -75G>A (LOD score 2.77) SNPs by single-point analysis (P < 0.001).
|
18801202 |
2008 |