|
Adult B Lymphoblastic Lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%).
|
24223200 |
2013 |
|
Adult Burkitt Lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%).
|
24223200 |
2013 |
|
Adult Diffuse Large B-Cell Lymphoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Ran GTPase-activating protein 1 is a therapeutic target in diffuse large B-cell lymphoma.
|
24223200 |
2013 |
|
Adult Hodgkin Lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%).
|
24223200 |
2013 |
|
Amyotrophic Lateral Sclerosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
RanGAP physically interacts with HRE RNA and is mislocalized in HRE-expressing flies, neurons from C9orf72 ALS patient-derived induced pluripotent stem cells (iPSC-derived neurons), and in C9orf72 ALS patient brain tissue.
|
26308891 |
2015 |
|
Autism Spectrum Disorders
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We discuss the possibility that segregation distortion during spermatogenesis accounts for a subset of ASD mutations.
|
28733602 |
2017 |
|
B Lymphoblastic Lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%).
|
24223200 |
2013 |
|
B-Cell Lymphomas
|
0.010 |
AlteredExpression
|
group |
BEFREE |
RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%).
|
24223200 |
2013 |
|
beta Thalassemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
It was suggested that segregation distortion is not a mechanism which contributes to the maintenance of polymorphism in the beta-thalassemia system in the population of the Ferrara area.
|
930927 |
1977 |
|
beta^+^ Thalassemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
It was suggested that segregation distortion is not a mechanism which contributes to the maintenance of polymorphism in the beta-thalassemia system in the population of the Ferrara area.
|
930927 |
1977 |
|
Burkitt Lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%).
|
24223200 |
2013 |
|
Childhood B Lymphoblastic Lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%).
|
24223200 |
2013 |
|
Childhood Burkitt Lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%).
|
24223200 |
2013 |
|
Childhood Hodgkin Lymphoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%).
|
24223200 |
2013 |
|
Childhood Leukemia
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%).
|
24223200 |
2013 |
|
Childhood Leukemia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Therefore, the existence of another genetic region linked to the MHC, causing segregation distortion, and containing recessive leukemia susceptibility genes may be postulated.
|
1610974 |
1992 |
|
Claw hand
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.
|
10330351 |
1999 |
|
Cone-Rod Dystrophies
|
0.010 |
Biomarker
|
disease |
BEFREE |
Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics.
|
8162077 |
1994 |
|
Cone-Rod Dystrophy 2
|
0.010 |
Biomarker
|
disease |
BEFREE |
Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics.
|
8162077 |
1994 |
|
Cystic Fibrosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Single sperm typing can address questions about segregation distortion in man, and it is unlikely that sex ratio distortion for CF carriers is due to events which occur pre-fertilisation.
|
7684944 |
1993 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
However, the segregation ratio of single sperm with an expanded allele to ones with a normal allele is not statistically different ( P = 0.161) from the expected 1:1 segregation ratio, and thus segregation distortion of expanded alleles in meiosis in male patients with DRPLA was not demonstrated.
|
9949204 |
1999 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the 50 diabetic sib sets, and independently of the Italian and British groups of affected sib pairs, revealed no segregation distortion between the marker locus and NIDDM.
|
1446805 |
1992 |
|
Diffuse Large B-Cell Lymphoma
|
0.310 |
Biomarker
|
disease |
CTD_human |
We have reported that ON 01910.Na (rigosertib), a multikinase inhibitor, is selectively cytotoxic for DLBCL and induces more hyperphosphorylation and sumoylation of Ran GTPase-activating protein 1 (RanGAP1) in DLBCL cells than in non-neoplastic lymphoblastoid cell line.
|
27150054 |
2016 |
|
Diffuse Large B-Cell Lymphoma
|
0.310 |
Biomarker
|
disease |
BEFREE |
Furthermore, ON 01910.Na (Estybon), a multikinase inhibitor induced cell death, mitotic cell arrest, and hyperphosphorylation of RanGAP1 in DLBCL cell lines but no effects in normal B and T cells.
|
24223200 |
2013 |
|
Ectrodactyly
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Data shown here provides further evidence for the contribution of DLX5 point mutations to the development of ectrodactyly and suggest the possibility of sex-related segregation distortion with an excess of affected males.
|
25196357 |
2014 |