|
Contracture of joint
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in B3GAT3 are associated with a complex connective tissue phenotype characterized by disproportionate short stature, skeletal dysplasia, facial dysmorphism, spatulate distal phalanges and -to a lesser extent- joint contractures, joint hypermobility with dislocations, cardiac defects and bone fragility.
|
31196143 |
2019 |
|
Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
In conclusion, overexpressed B3GAT3 promotes the process of tumor EMT, which is an independent prognostic marker to predict the prognosis of liver cancer and might be a potential new target for liver cancer therapy.
|
30847403 |
2019 |
|
Adult Liver Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
In conclusion, overexpressed B3GAT3 promotes the process of tumor EMT, which is an independent prognostic marker to predict the prognosis of liver cancer and might be a potential new target for liver cancer therapy.
|
30847403 |
2019 |
|
Liver and Intrahepatic Biliary Tract Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
In conclusion, overexpressed B3GAT3 promotes the process of tumor EMT, which is an independent prognostic marker to predict the prognosis of liver cancer and might be a potential new target for liver cancer therapy.
|
30847403 |
2019 |
|
Malignant neoplasm of liver
|
0.010 |
Biomarker
|
disease |
BEFREE |
In conclusion, overexpressed B3GAT3 promotes the process of tumor EMT, which is an independent prognostic marker to predict the prognosis of liver cancer and might be a potential new target for liver cancer therapy.
|
30847403 |
2019 |
|
Geroderma osteodysplastica
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes.
|
31438591 |
2019 |
|
Tumor Cell Invasion
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Our results proved that knockdown of B3GAT3 inhibited the proliferation, migration, and invasion.
|
30847403 |
2019 |
|
Craniosynostosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
All died before 1 year of age.ConclusionWe identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3.
|
28771243 |
2018 |
|
Refractive Errors
|
0.010 |
Biomarker
|
group |
BEFREE |
The eye features were a notable part of this child's presentation and mutations in the linkeropathy genes (XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3) can be associated with ocular findings, including blue sclerae, refractive errors, corneal clouding, strabismus, nystagmus, cataracts, glaucoma, and retinal abnormalities, including retinal detachment.
|
27320698 |
2016 |
|
Glaucoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We report on a patient with a novel homozygous B3GAT3 (c.667G>A, p.Gly223Ser) mutation and a history of multiple fractures, blue sclerae, and glaucoma.
|
26086840 |
2015 |
|
Osteochondrodysplasias
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
|
25893793 |
2015 |
|
Skeletal dysplasia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
|
25893793 |
2015 |
|
Congenital Abnormality
|
0.010 |
GeneticVariation
|
group |
BEFREE |
This patient has short stature, facial dysmorphisms, skeletal findings, joint laxity, and cardiac manifestations similar to those previously associated with B3GAT3 mutations.
|
24668659 |
2014 |
|
Bilateral inguinal hernia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
He has bilateral inguinal hernias and atlanto-axial as well as atlanto-occipital instability that have not been previously associated with B3GAT3 mutations.
|
24668659 |
2014 |
|
Instability of atlantooccipital joint
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
He has bilateral inguinal hernias and atlanto-axial as well as atlanto-occipital instability that have not been previously associated with B3GAT3 mutations.
|
24668659 |
2014 |
|
Congenital malformation syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype.
|
24668659 |
2014 |
|
Congenital Heart Defects
|
0.010 |
AlteredExpression
|
group |
BEFREE |
The study shows that reduced GlcAT-I activity impairs skeletal as well as heart development and results in variable combinations of heart malformations, including mitral valve prolapse, ventricular septal defect, and bicuspid aortic valve.
|
21763480 |
2011 |
|
Pulmonary Fibrosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Lung biopsies from idiopathic pulmonary fibrosis (IPF) patients and lung tissue from a rat model of bleomycin (BLM)-induced PF were immunostained for chondroitin sulfated-GAGs and GlcAT-I expression.
|
21056957 |
2011 |
|
Idiopathic Pulmonary Fibrosis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Our data show for the first time increased expression of CS-GAGs and GlcAT-I in IPF, fibrotic rat lungs, and fibrotic lung fibroblasts.
|
21056957 |
2011 |
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
Amblyopia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Cleft Palate
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Congenital clubfoot
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Cutis Laxa
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|