Blood Cells, Molecules and Diseases 
This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.
This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.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
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
