Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
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A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variantRosai-Dorfman disease and the heartEquilibrative nucleoside transporters-A review.Rosai-Dorfman disease of the central nervous system: report of 6 cases and review of the literature.Bone Involvement in Rosai-Dorfman Disease (RDD): a Case Report and Systematic Literature ReviewHuman equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.Nucleoside transporter proteins as biomarkers of drug responsiveness and drug targets.Purine import into malaria parasites as a target for antimalarial drug development.Genome-wide analysis of immune system genes by expressed sequence Tag profiling.Membrane transporters in a human genome-scale metabolic knowledgebase and their implications for disease.Rosai-Dorfman disease presenting as mediastinal lymphadenopathy: case report and review of the literature.Rosai-Dorfman disease: tumor biology, clinical features, pathology, and treatment.Accelerated coronary atherosclerosis and H syndrome.Extranodal Rosai-Dorfman Disease: Clinicopathologic Series of 10 Patients With Radiologic Correlation and Review of the Literature.Inhibition of Transient Receptor Potential Channel Mucolipin-1 (TRPML1) by Lysosomal Adenosine Involved in Severe Combined Immunodeficiency Diseases.Novel homozygous SLC29A3 mutations among two unrelated Egyptian families with spectral features of H-syndrome.Male fertility and skin diseases.Lysosomal degradation of intracellular nucleic acids-multiple autophagic pathways.Cranio-spinal Rosai Dorfman disease: case series and literature review.Toward a structural understanding of nucleic acid-sensing Toll-like receptors in the innate immune system.Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.H syndrome: 5 new cases from the United States with novel features and responses to therapy.Genomic polymorphisms of SLC29A3 associated with overall survival in advanced non-small-cell lung cancer treated with gemcitabine.Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.Functional analysis of the human concentrative nucleoside transporter-1 variant hCNT1S546P provides insight into the sodium-binding pocket.Molecular determinants of acidic pH-dependent transport of human equilibrative nucleoside transporter 3.Expression of nucleoside transporter in freshly isolated neurons and astrocytes from mouse brain.A Study on Clinical Characteristics and Magnetic Resonance Imaging Manifestations on Systemic Rosai-Dorfman Disease.Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene.An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.Histiocytic and dendritic cell neoplasms: what have we learnt by studying 67 cases.Identification of Structural and Molecular Features Involved in the Transport of 3'-Deoxy-Nucleoside Analogs by Human Equilibrative Nucleoside Transporter 3.Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease.A Case of SLC29A3 Spectrum Disorder-Unresponsive to Multiple Immunomodulatory Therapies.Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis.The histopathology and phenotypic variability in H syndrome.
P2860
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P2860
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@ast
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@en
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@en-gb
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@nl
type
label
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@ast
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@en
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@en-gb
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@nl
prefLabel
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@ast
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@en
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@en-gb
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@nl
P2093
P2860
P50
P1433
P1476
Mutations in SLC29A3, encoding ...... amilial Rosai-Dorfman disease.
@en
P2093
Anna Straatman-Iwanowska
Carlos Dalence
Dean Gentle
Diane Gleeson
Erol Kismet
Fatimah Rahman
Hakan Cangul
Hans-Christoph Rossbach
Maaike P G Vreeswijk
Mark R Morris
P2860
P304
P356
10.1371/JOURNAL.PGEN.1000833
P50
P577
2010-02-05T00:00:00Z