|
rs77375493
|
|
T |
0.750 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1232880706
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1565295267
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs754190776
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A new abnormal hemoglobin, Hb Villejuif [beta 123(H1) Thr----Ile] has been discovered during the exploration of a polycythemia in a 87-year-old patient of French origin.
|
2816924 |
1989 |
|
rs33927093
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hb Puttelange [beta 140(H18)Ala-->Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia.
|
8522332 |
1995 |
|
rs35594230
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hb Puttelange [beta 140(H18)Ala-->Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia.
|
8522332 |
1995 |
|
rs142094773
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the Epo-R mutation (N487S) that we describe is located in the same tyrosine sequence beginning at AA 485 as the one previously observed (P488S) in as case of polycythemia (Sokol et al, Exp Hematol 22:447, 1994).
|
8608241 |
1996 |
|
rs62638745
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the Epo-R mutation (N487S) that we describe is located in the same tyrosine sequence beginning at AA 485 as the one previously observed (P488S) in as case of polycythemia (Sokol et al, Exp Hematol 22:447, 1994).
|
8608241 |
1996 |
|
rs28940298
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset.
|
15642680 |
2005 |
|
rs200885420
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset.
|
15642680 |
2005 |
|
rs5030824
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report on five Caucasian patients with congenital polycythemia and mutations of the von Hipple-Lindau (VHL) gene: a compound heterozygote for the novel exon 1 (VHL 235C->T) and previously reported VHL 562C->G mutations; three homozygotes for Chuvash VHL 598C->T mutation; and a heterozygote for VHL 523->G mutation who also has ataxia-telangiectasia; a rare autosomal disease of childhood onset.
|
15642680 |
2005 |
|
rs201051019
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg).
|
15921386 |
2005 |
|
rs869025650
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg).
|
15921386 |
2005 |
|
rs869025650
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg).
|
15921386 |
2005 |
|
rs77375493
|
|
|
0.750 |
GeneticVariation |
BEFREE |
This work demonstrates that JAK2(V617F) is sufficient for polycythemia and fibrosis development and offers an in vivo model to assess novel therapeutic approaches for JAK2(V617F)-positive pathologies.
|
16670266 |
2006 |
|
rs77375493
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Molecular pathogenesis and therapy of polycythemia induced in mice by JAK2 V617F.
|
17183644 |
2006 |
|
rs77375493
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been detected in up to 90% of patients with polycythemia and in a sizeable proportion of patients with other myeloproliferative disorders such as essential thrombocythemia and idiopathic myelofibrosis.
|
17317861 |
2007 |
|
rs77375493
|
|
|
0.750 |
GeneticVariation |
BEFREE |
These results demonstrate that STAT5a/b is essential for the induction of CML-like leukemia by BCR-ABL1 and of polycythemia by JAK2(V617F), and validate STAT5a/b and the genes they regulate as targets for therapy in these MPNs.
|
22234689 |
2012 |
|
rs77375493
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The JAK2(V617F) mutation occurred in 27% of SP patients diagnosed according to the Polycythemia Vera Study Group or World Health Organization 2001 criteria.
|
22262773 |
2012 |
|
rs28940298
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1.
|
23403324 |
2013 |
|
rs28940301
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).
|
23403324 |
2013 |
|
rs28940301
|
|
|
0.020 |
GeneticVariation |
BEFREE |
This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1.
|
23403324 |
2013 |
|
rs771912975
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).
|
23403324 |
2013 |
|
rs775387828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors.
|
23538339 |
2013 |
|
rs780178275
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors.
|
23538339 |
2013 |