Decreasing circ_0014614 promotes the differentiation of bone marrow flineage cells into megakaryocytes in essential thrombocythemia via activiation of miR-138-5p/caspase3 axis
CONCLUSION: Circ_0014614 was down-regulated in ET bone marrow and bone marrow lineage cells, and upregulating circ_0014614 can inhibit bone marrow lineage cells' proliferation and differentiation into megakaryocytes. Mechanistically, circ_0014614 functioned as ceRNA via sponging miR-138-5p and alleviated the inhibitory effect of miR-138-5p on its target caspase3, which potentially deters tumor activity in ET.PMID:38703475 | DOI:10.1016/j.bcmd.2024.102855 (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - May 4, 2024 Category: Hematology Authors: Guopan Yu Xiaofan Chen Weixiang Lu Yanlin Li Yanxiao Chen Changxin Yin Zhongxin Zheng Xiaoshan Huang Dan Xu Source Type: research

Decreasing circ_0014614 promotes the differentiation of bone marrow flineage cells into megakaryocytes in essential thrombocythemia via activiation of miR-138-5p/caspase3 axis
CONCLUSION: Circ_0014614 was down-regulated in ET bone marrow and bone marrow lineage cells, and upregulating circ_0014614 can inhibit bone marrow lineage cells' proliferation and differentiation into megakaryocytes. Mechanistically, circ_0014614 functioned as ceRNA via sponging miR-138-5p and alleviated the inhibitory effect of miR-138-5p on its target caspase3, which potentially deters tumor activity in ET.PMID:38703475 | DOI:10.1016/j.bcmd.2024.102855 (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - May 4, 2024 Category: Hematology Authors: Guopan Yu Xiaofan Chen Weixiang Lu Yanlin Li Yanxiao Chen Changxin Yin Zhongxin Zheng Xiaoshan Huang Dan Xu Source Type: research

Decreasing circ_0014614 promotes the differentiation of bone marrow flineage cells into megakaryocytes in essential thrombocythemia via activiation of miR-138-5p/caspase3 axis
CONCLUSION: Circ_0014614 was down-regulated in ET bone marrow and bone marrow lineage cells, and upregulating circ_0014614 can inhibit bone marrow lineage cells' proliferation and differentiation into megakaryocytes. Mechanistically, circ_0014614 functioned as ceRNA via sponging miR-138-5p and alleviated the inhibitory effect of miR-138-5p on its target caspase3, which potentially deters tumor activity in ET.PMID:38703475 | DOI:10.1016/j.bcmd.2024.102855 (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - May 4, 2024 Category: Hematology Authors: Guopan Yu Xiaofan Chen Weixiang Lu Yanlin Li Yanxiao Chen Changxin Yin Zhongxin Zheng Xiaoshan Huang Dan Xu Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G   & gt;  A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research