Thrombocytopenia 4
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
BEFREE |
In the last 5 years, nine new genes whose mutations are responsible for thrombocytopenia have been identified, and this also led to the recognition of several novel nosographic entities, such as thrombocytopenias deriving from mutations in CYCS, TUBB1, FLNA, ITGA2B/ITGB3, ANKRD26 and ACTN1.
|
23636669 |
2013 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
BEFREE |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
BEFREE |
Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes.
|
27861742 |
2017 |
Chondrosarcoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
In this study, we investigated the effect of long-term exposure to 5% low oxygen atmosphere on human chondrosarcoma HCS-2/8 cells.
|
28865129 |
2018 |
Chondrosarcoma
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.
|
24324705 |
2013 |
Chondrosarcoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
HCS-2/8 is a stable human chondrosarcoma cell line with many chondrocytic characteristics and has the capacity to form chondrosarcomas in nude mice.
|
8200849 |
1994 |
Chondrosarcoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
Cell density-dependent proliferative effects of transforming growth factor (TGF)-beta 1, beta 2, and beta 3 in human chondrosarcoma cells HCS-2/8 are associated with changes in the expression of TGF-beta receptor type I.
|
11458815 |
2001 |
Chondrosarcoma
|
0.050 |
Biomarker
|
disease |
BEFREE |
New clonal-cell lines HCS-TG C3 and E2 derived from human chondrosarcoma are morphologically chondrocytic in serial monolayer cultures and express chondrocytic phenotypes.
|
15118855 |
2004 |
Choriocarcinoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Chorionic somatomammotropin (hCS) genes (hCS-A and hCS-B) and the placental growth hormone variant (hGH-V) gene are expressed in the syncytiotrophoblast in vivo, and at low levels in cytotrophoblast-like choriocarcinoma (BeWo) cells.
|
8472847 |
1993 |
Choriocarcinoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Each individual concatenated enhanson was able to stimulate hCS promoter activity in an orientation-independent manner in choriocarcinoma cells (BeWo) with an observed stimulation that was directly proportional to its relative binding affinity for TEF-1 and CSEF-1.
|
9259314 |
1997 |
Choriocarcinoma
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
We demonstrated that TEF-1 represses hCS promoter activity in choriocarcinoma (BeWo) cells (Jiang, S.W., and Eberhardt, N.L.(1995) J. Biol.Chem.
|
8621623 |
1996 |
Scleroderma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Patients enrolled in the Scleroderma Lung Study II (cyclophosphamide [CYC] versus mycophenolate mofetil [MMF]) were included.
|
31233287 |
2019 |
Scleroderma
|
0.030 |
Biomarker
|
disease |
BEFREE |
RTX is a safe and effective alternative to CYC in the primary therapy of skin and lung manifestations of scleroderma.
|
30053212 |
2018 |
Scleroderma
|
0.030 |
Biomarker
|
disease |
BEFREE |
A retrospective cohort of SSc subjects with ILD, disease duration below seven years and no exposure to CYC or MMF prior to the baseline visit was constructed from the Canadian Scleroderma Research Group registry.
|
31535689 |
2019 |
Systemic Scleroderma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Patients enrolled in the Scleroderma Lung Study II (cyclophosphamide [CYC] versus mycophenolate mofetil [MMF]) were included.
|
31233287 |
2019 |
Systemic Scleroderma
|
0.030 |
Biomarker
|
disease |
BEFREE |
A retrospective cohort of SSc subjects with ILD, disease duration below seven years and no exposure to CYC or MMF prior to the baseline visit was constructed from the Canadian Scleroderma Research Group registry.
|
31535689 |
2019 |
Systemic Scleroderma
|
0.030 |
Biomarker
|
disease |
BEFREE |
RTX is a safe and effective alternative to CYC in the primary therapy of skin and lung manifestations of scleroderma.
|
30053212 |
2018 |
Lung Diseases, Interstitial
|
0.030 |
Biomarker
|
group |
BEFREE |
In both treatment arms (n = 71 for CYC, n = 62 for MMF), a higher baseline KL-6 level predicted progression of ILD based on the course of FVC (P = 0.024 for CYC; P = 0.005 for MMF) and DLco (P < 0.001 for CYC; P = 0.004 for MMF) over 1 year.
|
31233287 |
2019 |
Lung Diseases, Interstitial
|
0.030 |
Biomarker
|
group |
BEFREE |
The aim of the study was to compare the efficacy and safety of RTX compared with CYC in retarding the progression of interstitial lung disease and skin manifestations of primary SSc.
|
30053212 |
2018 |
Lung Diseases, Interstitial
|
0.030 |
Biomarker
|
group |
BEFREE |
Our aim was to determine whether use of CYC or MMF was associated with an improved ILD course in patients with normal or mildly impaired lung function.
|
31535689 |
2019 |
Malignant Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Patients were called in and a standard form was used for collecting demographic characteristics, indication for CYC, its cumulative dose and short term adverse events, defined as those causing discontinuation of CYC, hospitalization and/or death, long term adverse events, including infertility and malignancy, and outcome.
|
31840168 |
2019 |
Malignant Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
CYC increases the risk of cancer, and HCQ decreases this risk in SLE patients, both in a dose-dependent manner.
|
28039419 |
2017 |
Lupus Erythematosus, Systemic
|
0.020 |
Biomarker
|
disease |
BEFREE |
Two subcohorts of treated SLE patients were defined on the basis of treatment with antimalarials (n = 1942) and other immunosuppressants (AZA, CYC, ciclosporin, MTX, MMF or rituximab; n = 2175).
|
28039412 |
2017 |
Lupus Erythematosus, Systemic
|
0.020 |
Biomarker
|
disease |
BEFREE |
To address the possibility of a marginal effect on the ovarian reserve, we measured serum titers of anti-Müllerian hormone (AMH) in patients with systemic lupus erythematosus (SLE) treated with the Euro-Lupus regimen and compared them with those measured in patients who were treated with higher doses of IV CYC or were never treated with IV CYC.
|
28235250 |
2017 |