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Elsevier电子期刊(15)

在“Elsevier电子期刊”中，命中：15条，耗时：小于0.01 秒

在所有数据库中总计命中：20条

1.The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption

作者：Rongbao Zhao^a ; ^b ; Srinivas Aluri^a ; ^b ; I. David Goldman^a ; ^b ; ^{i.david.goldman@einstein.yu.edu}

关键词：Proton-coupled folate transporter ; PCFT ; SLC46A1 ; Reduced folate carrier ; RFC ; SLC19A1 ; Folate receptors ; FRα ; Folates ; Folic acid ; Methotrexate ; Pemetrexed ; Hereditary folate malabsorption ; HFM ; Cerebral folate deficiency ; CFD

刊名：Molecular Aspects of Medicine

出版年：2017

2.Impact of folate therapy on combined immunodeficiency secondary to hereditary folate malabsorption

作者：Kenji Kishimoto^a ; ^{ken@yacht.ocn.ne.jp" class="auth_mail} ; Ryoji Kobayashi^a ; Hirozumi Sano^a ; Daisuke Suzuki^a ; Hayato Maruoka^b ; Kazue Yasuda^a ; Natsuko Chida^c ; Masafumi Yamada^c ; Kunihiko Kobayashi^a

关键词：Hereditary folate malabsorption ; Severe combined immunodeficiency ; Cytokine profile ; Pneumocystis pneumonia ; Novel mutations

刊名：Clinical Immunology

出版年：July 2014

3.A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption

作者：N. Diop-Bove ; M. Jain ; F. Scaglia ; I.D. Goldman

关键词：HFM ; hereditary folate malabsorption ; PCFT ; proton-coupled folate transporter ; CSF ; cerebrospinal fluid

刊名：Gene

出版年：2013

4.Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors

作者：Rongbao Zhao ; I. David Goldman ; ^{i.david.goldman@einstein.yu.edu}

关键词：RFC ; reduced folate carrier ; PCFT ; proton-coupled folate transporter ; ThTr1 ; thiamine transporter-1 ; ThTr2 ; thiamine transporter-2 ; FOLR1 ; folate receptor 1 or FR¦Á ; FOLR2 ; folate receptor 2 or FR¦Â ; CSF ; cerebrospinal fluid ; HFM ; hereditary folate malabs

刊名：Molecular Aspects of Medicine

出版年：2013

5.Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption

作者：Daniel Sanghoon Shin^a ; ^b ; Kris Mahadeo^a ; ^c ; Sang Hee Min^a ; ^b ; Ndeye Diop-Bove^b ; Peter Clayton^d ; Rongbao Zhao^b ; I. David Goldman^a ; ^b ; ^{i.david.goldman@einstein.yu.edu"" rel=""nofollow}

关键词：HFM ; hereditary folate malabsorption ; PCFT ; proton-coupled folate transporter ; HCP1 ; PCFT/HCP1 ; Heme carrier protein 1 ; Folates ; proton-coupled transport ; Intestinal folate transport

刊名：Molecular Genetics and Metabolism

出版年：2011

6.Prevalence of a Loss-of-Function Mutation in the Proton-Coupled Folate Transporter Gene (PCFT-SLC46A1) Causing Hereditary Folate Malabsorption in Puerto Rico

作者：Kris M. Mahadeo ; MD^a ; Ndeye Diop-Bove ; PhD^b ; Sonia I. Ramirez ; MT^d ; Carmen L. Cadilla ; PhD^e ; Enid Rivera ; MD^d ; Madelena Martin ; MD^g ; Norma B. Lerner ; MD ; MPH^f ; Lisa DiAntonio ; MS^c ; Salvatore Duva^c ; Pedro J. Santiago-Borrero ; MD^d ; I. David Goldman ; MD^b ; ^{i.david.goldman@einstein.yu.edu}

关键词：HFM ; Hereditary folate malabsorption ; PCFT ; Proton-Coupled Folate Transporter ; PCR ; Polymerase chain reaction

刊名：The Journal of Pediatrics

出版年：2011

7.A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

作者：Esther Meyer ; Manju A. Kurian ; Shanaz Pasha ; Richard C. Trembath ; Trevor Cole ; Eamonn R. Maher

关键词：Hereditary folate malabsorption ; PCFT ; SLC46A1 ; Frameshift mutation ; Anemia

刊名：Molecular Genetics and Metabolism

出版年：2010

8.Hereditary folate malabsorption: A positively charged amino acid at position 113 of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding

作者：Inbal Lasry ; Bluma Berman ; Fabian Glaser ; Gerrit Jansen ; Yehuda G. Assaraf

关键词：Hereditary folate malabsorption ; Folates ; Intestinal folate transport ; PCFT ; Loss-of-function mutations

刊名：Biochemical and Biophysical Research Communications

出版年：2009

9.The proton-coupled folate transporter: physiological and pharmacological roles

作者：Rongbao Zhao ; I David Goldman

刊名：Current Opinion in Pharmacology

出版年：December, 2013

10.Vulnerability of the cysteine-less proton-coupled folate transporter (PCFT-SLC46A1) to mutational stress associated with the substituted cysteine accessibility method

作者：Rongbao Zhao^a ; Daniel Sanghoon Shin^a ; I. David Goldman ; ^a ; ^{igoldman@aecom.yu.edu}

关键词：Proton-coupled folate transporter ; Hereditary folate malabsorption ; Substituted cysteine accessibility method ; Folate

刊名：Biochimica et Biophysica Acta (BBA)/Biomembranes

出版年：2011

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