|
Intracranial Aneurysm
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Among all DEGs, 5 down-regulated genes (MYH11, CNN1, MYOCD, ACTA1, and LMOD1) and 3 up-regulated genes (C1QB, C3AR1, and VSIG4) are most relevant in IA formation.
|
31238169 |
2019 |
|
Colorectal Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Genes such as ACTA2, ACTG2, MYH11, CALD1, MYL9, TPM2, and LMOD1 were strongly implicated in CRC.
|
30786729 |
2019 |
|
Squamous cell carcinoma of esophagus
|
0.010 |
Biomarker
|
disease |
BEFREE |
By bioinformatics analysis, the four up-regulated proteins (PTMA, PAK2, PPP1CA, HMGB2) and the five down-regulated proteins (Caveolin, Integrin beta-1, Collagen alpha-2(VI), Leiomodin-1 and Vinculin) were selected and validated in ESCC by Western Blot.
|
30988666 |
2019 |
|
Coronary heart disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus.
|
30444878 |
2018 |
|
Trichohepatoenteric Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The molecular basis of this condition started to be defined recently, and the genes related to the syndrome (ACTG2-heterozygous variant in sporadic cases; and MYH11 (myosin heavy chain 11), LMOD1 (leiomodin 1) and MYLK (myosin light chain (MLC) kinase)-autosomal recessive inheritance), encode proteins involved in the smooth muscle contraction, supporting a myopathic basis for the disease.
|
29453416 |
2018 |
|
SMITH-MCCORT DYSPLASIA 1
|
0.010 |
Biomarker
|
disease |
BEFREE |
LMOD1 knockdown results in increased proliferation and migration and decreased cell contraction in HCASMC, and immunostaining in atherosclerotic lesions in the SMC lineage tracing reporter mouse support a key role for LMOD1 in maintaining the differentiated SMC phenotype.
|
30444878 |
2018 |
|
Arteriosclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We identified 25 new SNP-CAD associations (P < 5 × 10<sup>-8</sup>, in fixed-effects meta-analysis) from 15 genomic regions, including SNPs in or near genes involved in cellular adhesion, leukocyte migration and atherosclerosis (PECAM1, rs1867624), coagulation and inflammation (PROCR, rs867186 (p.Ser219Gly)) and vascular smooth muscle cell differentiation (LMOD1, rs2820315).
|
28530674 |
2017 |
|
Atherosclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We identified 25 new SNP-CAD associations (P < 5 × 10<sup>-8</sup>, in fixed-effects meta-analysis) from 15 genomic regions, including SNPs in or near genes involved in cellular adhesion, leukocyte migration and atherosclerosis (PECAM1, rs1867624), coagulation and inflammation (PROCR, rs867186 (p.Ser219Gly)) and vascular smooth muscle cell differentiation (LMOD1, rs2820315).
|
28530674 |
2017 |
|
Nodding Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Antibodies targeting leiomodin-1 were neurotoxic in vitro, and leiomodin-1 antibodies purified from patients with nodding syndrome were cross-reactive with <i>O. volvulus</i> antigens.
|
28202777 |
2017 |
|
leiomyosarcoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We identified two new formalin-fixed, paraffin-embedded tissue-compatible diagnostic immunohistochemical markers; LMOD1 for subtype I leiomyosarcoma and ARL4C for subtype II leiomyosarcoma.
|
25896974 |
2015 |
|
Adult Leiomyosarcoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We identified two new formalin-fixed, paraffin-embedded tissue-compatible diagnostic immunohistochemical markers; LMOD1 for subtype I leiomyosarcoma and ARL4C for subtype II leiomyosarcoma.
|
25896974 |
2015 |
|
Childhood Leiomyosarcoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We identified two new formalin-fixed, paraffin-embedded tissue-compatible diagnostic immunohistochemical markers; LMOD1 for subtype I leiomyosarcoma and ARL4C for subtype II leiomyosarcoma.
|
25896974 |
2015 |
|
Sarcoidosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Tissue antigens with these characteristics were detected with immunoglobulin (Ig)G or F(ab')(2) fragments from the sera of sarcoidosis patients in 9 of 12 (75%) sarcoidosis tissues (150-160, 80, or 60-64 kD) but only 3 of 22 (14%) control tissues (all 62-64 kD; P = 0.0006).
|
15753209 |
2005 |
|
Graves Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
The 64-kDa autoantigen D1 or 1D, first identified as a potential autoantigen in Graves' disease, is similar to the tropomodulin (Tmod) family of actin filament pointed end-capping proteins.
|
11318603 |
2001 |
|
Hyperthyroidism
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The 64kD human autoantigen D1 is expressed in slow fibers of extraocular and sternothyroid muscles as a component of myofibrils, and is not upregulated in conditions of hyperthyroidism.
|
10520227 |
1999 |
|
Hyperthyroidism
|
0.010 |
AlteredExpression
|
disease |
LHGDN |
The 64kD human autoantigen D1 is expressed in slow fibers of extraocular and sternothyroid muscles as a component of myofibrils, and is not upregulated in conditions of hyperthyroidism.
|
10520227 |
1999 |
|
Progressive supranuclear palsy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Third, we probed PPND brain by Western blots using some of the same anti-tau antibodies to reveal 2 tau immunobands with molecular weights of 69 kD and 64 kD in gray and white matter extracts, as reported for both PSP and CBD.
|
9630238 |
1998 |
|
Deuteranomaly
|
0.010 |
Biomarker
|
disease |
BEFREE |
Third, we probed PPND brain by Western blots using some of the same anti-tau antibodies to reveal 2 tau immunobands with molecular weights of 69 kD and 64 kD in gray and white matter extracts, as reported for both PSP and CBD.
|
9630238 |
1998 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.010 |
Biomarker
|
disease |
BEFREE |
Antibodies to glutamic acid decarboxylase, previously known as the 64 kD antigen, appear to be more predictive of Type 1 (insulin-dependent) diabetes mellitus in Caucasoids than other autoantibodies to islet cell antigens.
|
1360432 |
1992 |
|
Duration of sleep
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.
|
30846698 |
2019 |
|
Mood Disorders
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.
|
29942085 |
2018 |
|
Major Depressive Disorder
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.
|
29942085 |
2018 |
|
Body mass index
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
|
29273807 |
2018 |
|
Visceral Myopathy
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
|
28292896 |
2017 |
|
Abnormality of the bladder
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
|
28292896 |
2017 |