Literature DB >> 30948487

Compound heterozygosity in PKLR gene for a previously unrecognized intronic polymorphism and a rare missense mutation as a novel cause of severe pyruvate kinase deficiency.

Shruti Bagla1, Kanta Bhambhani1, Manisha Gadgeel1, Steven Buck1, Jian-Ping Jin2, Yaddanapudi Ravindranath3.   

Abstract

Entities:  

Year:  2019        PMID： 30948487      PMCID： PMC6717571          DOI： 10.3324/haematol.2018.214692

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  15 in total

Review 1.  Splicing in action: assessing disease causing sequence changes.

Authors:  D Baralle; M Baralle
Journal:  J Med Genet       Date:  2005-10       Impact factor: 6.318

2.  Glucose phosphate isomerase deficiency as a cause of hydrops fetalis.

Authors:  Y Ravindranath; D E Paglia; I Warrier; W Valentine; M Nakatani; R A Brockway
Journal:  N Engl J Med       Date:  1987-01-29       Impact factor: 91.245

3.  Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia.

Authors:  Giovanna Valentini; Laurent R Chiarelli; Riccardo Fortin; Manuela Dolzan; Alessandro Galizzi; Donald J Abraham; Changqing Wang; Paola Bianchi; Alberto Zanella; Andrea Mattevi
Journal:  J Biol Chem       Date:  2002-04-17       Impact factor: 5.157

4.  Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.

Authors:  Rachael F Grace; Paola Bianchi; Eduard J van Beers; Stefan W Eber; Bertil Glader; Hassan M Yaish; Jenny M Despotovic; Jennifer A Rothman; Mukta Sharma; Melissa M McNaull; Elisa Fermo; Kimberly Lezon-Geyda; D Holmes Morton; Ellis J Neufeld; Satheesh Chonat; Nina Kollmar; Christine M Knoll; Kevin Kuo; Janet L Kwiatkowski; Dagmar Pospíšilová; Yves D Pastore; Alexis A Thompson; Peter E Newburger; Yaddanapudi Ravindranath; Winfred C Wang; Marcin W Wlodarski; Heng Wang; Susanne Holzhauer; Vicky R Breakey; Joachim Kunz; Sujit Sheth; Melissa J Rose; Heather A Bradeen; Nolan Neu; Dongjing Guo; Hasan Al-Sayegh; Wendy B London; Patrick G Gallagher; Alberto Zanella; Wilma Barcellini
Journal:  Blood       Date:  2018-03-16       Impact factor: 22.113

5.  Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.

Authors:  Paola Bianchi; Elisa Fermo; Bertil Glader; Hitoshi Kanno; Archana Agarwal; Wilma Barcellini; Stefan Eber; James D Hoyer; David J Kuter; Tabita Magalhães Maia; Maria Del Mar Mañu-Pereira; Theodosia A Kalfa; Serge Pissard; José-Carlos Segovia; Eduard van Beers; Patrick G Gallagher; David C Rees; Richard van Wijk
Journal:  Am J Hematol       Date:  2018-11-28       Impact factor: 10.047

6.  Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency.

Authors:  Richard Wijk; Annet C W van Wesel; Adri A M Thomas; Gert Rijksen; Wouter W van Solinge
Journal:  Br J Haematol       Date:  2004-04       Impact factor: 6.998

7.  The structure of the C-terminal KH domains of KSRP reveals a noncanonical motif important for mRNA degradation.

Authors:  María Flor García-Mayoral; David Hollingworth; Laura Masino; Irene Díaz-Moreno; Geoff Kelly; Roberto Gherzi; Chu-Fang Chou; Ching-Yi Chen; Andres Ramos
Journal:  Structure       Date:  2007-04       Impact factor: 5.006

8.  Novel mutations associated with pyruvate kinase deficiency in Brazil.

Authors:  Maria Carolina Costa Melo Svidnicki; Andrey Santos; Jhonathan Angel Araujo Fernandez; Ana Paula Hitomi Yokoyama; Isis Quezado Magalhães; Vitoria Regia Pereira Pinheiro; Silvia Regina Brandalise; Paulo Augusto Achucarro Silveira; Fernando Ferreira Costa; Sara Teresinha Olalla Saad
Journal:  Rev Bras Hematol Hemoter       Date:  2017-11-26

Review 9.  Splicing mutations in human genetic disorders: examples, detection, and confirmation.

Authors:  Abramowicz Anna; Gos Monika
Journal:  J Appl Genet       Date:  2018-04-21       Impact factor: 3.240

10.  KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.

Authors:  Yaddanapudi Ravindranath; Robert M Johnson; Gerard Goyette; Steven Buck; Manisha Gadgeel; Patrick G Gallagher
Journal:  J Pediatr Hematol Oncol       Date:  2018-08       Impact factor: 1.289
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  4 in total

1.  Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.

Authors:  Paola Bianchi; Elisa Fermo; Kimberly Lezon-Geyda; Eduard J van Beers; Holmes D Morton; Wilma Barcellini; Bertil Glader; Satheesh Chonat; Yaddanapudi Ravindranath; Peter E Newburger; Nina Kollmar; Jenny M Despotovic; Madeleine Verhovsek; Mukta Sharma; Janet L Kwiatkowski; Kevin H M Kuo; Marcin W Wlodarski; Hassan M Yaish; Susanne Holzhauer; Heng Wang; Joachim Kunz; Kathryn Addonizio; Hasan Al-Sayegh; Wendy B London; Oliver Andres; Richard van Wijk; Patrick G Gallagher; Rachael F F Grace
Journal:  Am J Hematol       Date:  2020-03-06       Impact factor: 10.047

Review 2.  Molecular heterogeneity of pyruvate kinase deficiency.

Authors:  Paola Bianchi; Elisa Fermo
Journal:  Haematologica       Date:  2020-09-01       Impact factor: 9.941

3.  The variable manifestations of disease in pyruvate kinase deficiency and their management.

Authors:  Hanny Al-Samkari; Eduard J Van Beers; Kevin H M Kuo; Wilma Barcellini; Paola Bianchi; Andreas Glenthøj; María Del Mar Mañú Pereira; Richard Van Wijk; Bertil Glader; Rachael F Grace
Journal:  Haematologica       Date:  2020-09-01       Impact factor: 9.941

4.  Genetic variants of PKLR are associated with acute pain in sickle cell disease.

Authors:  Xunde Wang; Kate Gardner; Mickias B Tegegn; Clifton L Dalgard; Camille Alba; Stephan Menzel; Hamel Patel; Mehdi Pirooznia; Yi-Ping Fu; Fayaz T Seifuddin; Swee Lay Thein
Journal:  Blood Adv       Date:  2022-06-14
  4 in total

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