Literature DB >> 32276275

A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.

Michael Svaton1, Karolina Skvarova Kramarzova1, Veronika Kanderova1, Andrea Mancikova2, Petr Smisek3, Pavel Jesina4, Jakub Krijt4, Blanka Stiburkova4,5, Robert Dobrovolny4, Jitka Sokolova4, Violeta Bakardjieva-Mihaylova1, Elena Vodickova6, Marketa Rackova1, Jan Stuchly1, Tomas Kalina1, Jan Stary3, Jan Trka1, Eva Fronkova1, Viktor Kozich4.   

Abstract

Entities:  

Year:  2020        PMID： 32276275      PMCID： PMC7330012          DOI： 10.1182/blood.2019003178

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  20 in total

Review 1.  Resistance to antifolates.

Authors:  Rongbao Zhao; I David Goldman
Journal:  Oncogene       Date:  2003-10-20       Impact factor: 9.867

2.  The human reduced folate carrier gene is ubiquitously and differentially expressed in normal human tissues: identification of seven non-coding exons and characterization of a novel promoter.

Authors:  Johnathan R Whetstine; Robin M Flatley; Larry H Matherly
Journal:  Biochem J       Date:  2002-11-01       Impact factor: 3.857

3.  Pattern of mutations that results in loss of reduced folate carrier function under antifolate selective pressure augmented by chemical mutagenesis.

Authors:  R Zhao; I G Sharina; I D Goldman
Journal:  Mol Pharmacol       Date:  1999-07       Impact factor: 4.436

4.  Rescue of embryonic lethality in reduced folate carrier-deficient mice by maternal folic acid supplementation reveals early neonatal failure of hematopoietic organs.

Authors:  R Zhao; R G Russell; Y Wang; L Liu; F Gao; B Kneitz; W Edelmann; I D Goldman
Journal:  J Biol Chem       Date:  2001-03-30       Impact factor: 5.157

5.  Urinary adenosine and aminoimidazolecarboxamide excretion in methotrexate-treated patients with psoriasis.

Authors:  J E Baggott; S L Morgan; W M Sams; J Linden
Journal:  Arch Dermatol       Date:  1999-07

6.  Restoration of high-level transport activity by human reduced folate carrier/ThTr1 thiamine transporter chimaeras: role of the transmembrane domain 6/7 linker region in reduced folate carrier function.

Authors:  Xiang Y Liu; Teah L Witt; Larry H Matherly
Journal:  Biochem J       Date:  2003-01-01       Impact factor: 3.857

7.  Trends in blood folate and vitamin B-12 concentrations in the United States, 1988 2004.

Authors:  Christine M Pfeiffer; Clifford L Johnson; Ram B Jain; Elizabeth A Yetley; Mary Frances Picciano; Jeanne I Rader; Kenneth D Fisher; Joseph Mulinare; John D Osterloh
Journal:  Am J Clin Nutr       Date:  2007-09       Impact factor: 7.045

8.  Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism.

Authors:  R H Allen; S P Stabler; J Lindenbaum
Journal:  Metabolism       Date:  1993-11       Impact factor: 8.694

Review 9.  Evidence for potential underestimation of clinical folate deficiency in resource-limited countries using blood tests.

Authors:  Asok C Antony
Journal:  Nutr Rev       Date:  2017-08-01       Impact factor: 7.110

Review 10.  Absorption and blood/cellular transport of folate and cobalamin: Pharmacokinetic and physiological considerations.

Authors:  David H Alpers
Journal:  Biochimie       Date:  2015-11-14       Impact factor: 4.079
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  2 in total

1.  Facile bimetallic co-amplified electrochemical sensor for folic acid sensing based on CoNPs and CuNPs.

Authors:  Zhen-Fan Zhou; Xiao-Zhen Feng; Tao Zhan; Guo-Cheng Han; Zhencheng Chen; Heinz-Bernhard Kraatz
Journal:  Anal Bioanal Chem       Date:  2022-08-05       Impact factor: 4.478

2.  Methotrexate recognition by the human reduced folate carrier SLC19A1.

Authors:  Nicholas J Wright; Justin G Fedor; Han Zhang; Pyeonghwa Jeong; Yang Suo; Jiho Yoo; Jiyong Hong; Wonpil Im; Seok-Yong Lee
Journal:  Nature       Date:  2022-09-07       Impact factor: 69.504
  2 in total

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