|
Abnormality of subcutaneous fat tissue
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
|
Abnormality of the helix
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
|
Absence of stomach bubble on fetal sonography
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
|
Absent reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acute leukemia
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
Investigation of the breakpoint on 22 in case 1 with Southern blotting and the polymerase chain reaction demonstrated the presence of a p190 mRNA and a breakpoint typical of acute leukemia.
|
1728947 |
1992 |
|
Acute leukemia
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Significance of the P210 versus P190 molecular abnormalities in adults with Philadelphia chromosome-positive acute leukemia.
|
1932753 |
1991 |
|
Acute leukemia
|
0.030 |
Biomarker
|
disease |
BEFREE |
The lack of rearrangements within the M-bcr gene, together with demonstration in one case of the Ph' + AL specific p190 protein product, pointed against the occurrence of chronic myeloid leukemias presenting in blastic transformation.
|
2693843 |
1989 |
|
Acute lymphocytic leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Additionally, in P210 (+) CML, down-regulated PAK1 expression may enhance the effect of TKI, whereas the reverse is true in P190 (+) B-ALL, demonstrating that PAK1 might also be an important therapeutic target between different BCR-ABL subtypes.
|
30784762 |
2019 |
|
Acute lymphocytic leukemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
One hundred and forty-three patients with p210 BCR-ABL-positive leukemia were studied for coexpression of p190 BCR-ABL mRNA. p190 mRNA was detected in 14 of 16 (88%) patients with chronic-phase chronic myeloid leukemia (CML) at diagnosis, in 10 of 10 (100%) CML patients in blast crisis, in 75 of 107 (70%) CML patients receiving interferon-alpha (IFN-alpha), and 10 of 10 (100%) patients with p210 BCR-ABL-positive acute lymphoblastic leukemia (ALL).
|
8652835 |
1996 |
|
Acute lymphocytic leukemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
This observation also confirmed that, as in de novo Ph1-positive ALL, both the P190 and P210 varieties of BCR-ABL mRNA are observed in ALL with late-appearing Ph1.
|
7564511 |
1995 |
|
Acute lymphocytic leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this study we adapted the multiplex RT-PCR assay, previously described by Pallisgaard et al., to detect all the most frequent genetic lesions with their characteristic splicing variants occurring in acute lymphoblastic leukemia, such as the MLL/AF4, MLL/ENL, BCR/ABL p190 (e1a2) and p210 (b2a2,b3a2) isoforms, E2A/PBX1, TEL/AML1, SIL/TAL1 and the novel NUP98/RAP1GDS1 transcript, recently described in a T-ALL leukemic subtype.
|
12651265 |
2003 |
|
Acute lymphocytic leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated the significance of p210 and p190 molecular abnormalities in 32 adults with Philadelphia chromosome (Ph)-positive acute leukemia. p210 was detected in 15 patients (47%), p190 in 16 (50%), and both in one (3%). p210 was noted in 11 of 24 patients (46%) with acute lymphocytic leukemia, and in four of eight patients (50%) with acute myelogenous or undifferentiated leukemia.
|
1932753 |
1991 |
|
Acute lymphocytic leukemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In this communication we describe an unusual patient with typical chronic phase Ph positive CML and evidence of the uncharacteristic mbcr1 breakpoint, predicting expression of the ALL-type p190 fusion protein.
|
8756076 |
1996 |
|
Acute lymphocytic leukemia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, p190 BCR-ABL mRNA was detected in the ALL blasts.
|
8639433 |
1996 |
|
Acute lymphocytic leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Philadelphia chromosome positive acute lymphocytic leukemia and chronic myelogenous leukemia are strongly associated with two distinct forms of bcr-abl chimeric protein, known as P190 and P210, respectively.
|
2915904 |
1989 |
|
Acute lymphocytic leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Resistance to imatinib of bcr/abl p190 lymphoblastic leukemia cells.
|
16707466 |
2006 |
|
Acute lymphocytic leukemia
|
0.100 |
Biomarker
|
disease |
BEFREE |
We investigated this possibility by studying peripheral blood leukocytes from normal individuals and various hematopoietic cell lines for the presence and expression of the p210 and the p190 types of the BCR-ABL gene associated with chronic myeloid leukemia (CML) and acute lymphoblastic leukemia.
|
9787174 |
1998 |
|
Acute lymphocytic leukemia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
BCR-ABL breakpoints were identified in p190 ALL (n=25), p210 ALL (n=25) and p210 CML (n=32); reciprocal breakpoints were identified in 54 cases.
|
20703256 |
2010 |
|
Acute monocytic leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Establishment of a novel human myeloid leukaemia cell line (HNT-34) with t(3;3)(q21;q26), t(9;22)(q34;q11) and the expression of EVI1 gene, P210 and P190 BCR/ABL chimaeric transcripts from a patient with AML after MDS with 3q21q26 syndrome.
|
9266939 |
1997 |
|
Acute Promyelocytic Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
One protein designated P190 has been found to be overexpressed in cell lines of human promyelocytic leukemia, lung and adenocarcinoma treated with adriamycin.
|
7765322 |
1993 |
|
Adenocarcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
One protein designated P190 has been found to be overexpressed in cell lines of human promyelocytic leukemia, lung and adenocarcinoma treated with adriamycin.
|
7765322 |
1993 |
|
Adult Acute Lymphocytic Leukemia
|
0.070 |
Biomarker
|
disease |
BEFREE |
The shorter p190 protein is associated almost only with ALL and AML, while the protein p210 is present in both chronic phase and blast crisis of CML and also in 50% of Philadelphia-positive (Ph1+) ALL.
|
2247753 |
1990 |
|
Adult Acute Lymphocytic Leukemia
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
In this communication we describe an unusual patient with typical chronic phase Ph positive CML and evidence of the uncharacteristic mbcr1 breakpoint, predicting expression of the ALL-type p190 fusion protein.
|
8756076 |
1996 |
|
Adult Acute Lymphocytic Leukemia
|
0.070 |
AlteredExpression
|
disease |
BEFREE |
One hundred and forty-three patients with p210 BCR-ABL-positive leukemia were studied for coexpression of p190 BCR-ABL mRNA. p190 mRNA was detected in 14 of 16 (88%) patients with chronic-phase chronic myeloid leukemia (CML) at diagnosis, in 10 of 10 (100%) CML patients in blast crisis, in 75 of 107 (70%) CML patients receiving interferon-alpha (IFN-alpha), and 10 of 10 (100%) patients with p210 BCR-ABL-positive acute lymphoblastic leukemia (ALL).
|
8652835 |
1996 |
|
Adult Acute Lymphocytic Leukemia
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
BCR-ABL breakpoints were identified in p190 ALL (n=25), p210 ALL (n=25) and p210 CML (n=32); reciprocal breakpoints were identified in 54 cases.
|
20703256 |
2010 |