Spastic Paraplegia, Hereditary
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
|
31696996 |
2020 |
Spastic Paraplegia, Hereditary
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Here we report the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1 (ubiquitin-associated protein 1).
|
30929741 |
2019 |
Spastic Paraplegia, Hereditary
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
We identified three novel heterozygous loss of function mutations (c.425_426delAG, c.312delC, and c.535G>T) in the UBAP1 gene as the genetic cause of a new type of HSP (SPG80).
|
31515522 |
2019 |
Spastic Paraplegia, Hereditary
|
0.340 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
|
30929741 |
2019 |
Spastic Paraplegia, Hereditary
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
We also identified two UBAP1 frameshift mutations, c.324_325delCA (p.H108Qfs*10) and c.425_426delAG (p.K143Sfs*15), in two unrelated families from an additional 38 Chinese pedigrees with autosomal dominant hereditary spastic paraplegias and lacking mutations in known causative genes.
|
31203368 |
2019 |
Systolic Pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Creatine kinase measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
Babinski Reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Spastic Paraplegia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hyperreflexia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Gait abnormality
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Gait Disturbance, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Henoch-Schoenlein Purpura
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Here we report the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1 (ubiquitin-associated protein 1).
|
30929741 |
2019 |
Henoch-Schoenlein Purpura
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We identified three novel heterozygous loss of function mutations (c.425_426delAG, c.312delC, and c.535G>T) in the UBAP1 gene as the genetic cause of a new type of HSP (SPG80).
|
31515522 |
2019 |
Acute myocardial infarction
|
0.020 |
Biomarker
|
disease |
BEFREE |
Patients with ACS were randomly assigned to the ACS group (subdivided into unstable angina pectoris [UAP] and acute myocardial infarction [AMI]).
|
24709882 |
2014 |
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
BRD3 and UBAP1 are both involved in NPC carcinogenesis as confirmed through our previous studies and PTEN is a crucial tumor suppressor in many tumor types.
|
20053927 |
2010 |
Nasopharyngeal carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
BRD3 and UBAP1 are both involved in NPC carcinogenesis as confirmed through our previous studies and PTEN is a crucial tumor suppressor in many tumor types.
|
20053927 |
2010 |
Acute myocardial infarction
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
To investigate the expression of ubiquitin in monocytes and lymphocytes isolated from patients at different stages of CAD, 120 patients with CAD (40 with acute myocardial infarction [AMI], 40 with unstable angina pectoris [UAP] and 40 with stable angina pectoris [SAP]) were selected; 40 patients with normal coronary arteries served as controls.
|
19094431 |
2009 |
Nasopharyngeal carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
The result suggests that UBAP1 might be a potential effective diagnosis candidate for NPC and decreased expression of UBAP1 protein is a possible point of dysfunction along the pathogenesis pathway for NPC that may contribute to malignant transformation.
|
16226037 |
2006 |
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
Isolation and characterization of a novel cDNA, UBAP1, derived from the tumor suppressor locus in human chromosome 9p21-22.
|
11599797 |
2001 |
Heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
The primary endpoint of the study was major adverse cardiovascular and cerebrovascular events (MACCEs), defined as a composite of cardiovascular death, myocardial infarction, stroke, ischemia-driven revascularization, or hospitalization for UAP or heart failure.
|
30819182 |
2019 |
Congestive heart failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
The primary endpoint of the study was major adverse cardiovascular and cerebrovascular events (MACCEs), defined as a composite of cardiovascular death, myocardial infarction, stroke, ischemia-driven revascularization, or hospitalization for UAP or heart failure.
|
30819182 |
2019 |
Chagas Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Also, Pep5-binding proteins were identified by mass spectrometry, including calmodulin-ubiquitin-associated protein, which is related to the virulence and parasitemia of <i>T. cruzi</i> Taken together, these data suggest that Pep5 can be used as a novel alternative for the treatment of Chagas disease.
|
30833431 |
2019 |
Parasitemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Also, Pep5-binding proteins were identified by mass spectrometry, including calmodulin-ubiquitin-associated protein, which is related to the virulence and parasitemia of <i>T. cruzi</i> Taken together, these data suggest that Pep5 can be used as a novel alternative for the treatment of Chagas disease.
|
30833431 |
2019 |
Spastic paraplegia 10, autosomal dominant
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our study provides genetic and biochemical evidence that mutations in UBAP1 can cause pure autosomal dominant spastic paraplegia.
|
31203368 |
2019 |