Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
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Biology of Heme in Mammalian Erythroid Cells and Related DisordersNewly recognized Mendelian disorders with rheumatic manifestationsControlling translation via modulation of tRNA levelsTRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesLARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureRecessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.Chemical proteomic map of dimethyl fumarate-sensitive cysteines in primary human T cellsHomozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disabilityRecent advances in the understanding of myelodysplastic syndromes with ring sideroblasts.Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada.Novel primary immunodeficiency candidate genes predicted by the human gene connectomeThe 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.Spectrum of combined respiratory chain defects.Mitochondrial transcript maturation and its disordersNew monogenic autoinflammatory diseases--a clinical overviewMolecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory DiseasesHypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.TRNT1 deficiency: clinical, biochemical and molecular genetic featuresAssessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.Neutrophilic dermatoses and autoinflammatory diseases with skin involvement--innate immune disorders.Genetically defined autoinflammatory diseases.Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.A systematic approach to autoinflammatory syndromes: a spelling booklet for the beginner.Genome-wide association of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos.Splicing factor mutations in MDS RARS and MDS/MPN-RS-T.The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis.A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.TRNT1 polymerizes CCA at the 3' end of pre-tRNA_R-HSA-6785470RNA modification landscape of the human mitochondrial tRNA regulates protein synthesis
P2860
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P2860
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
description
2014 nî lūn-bûn
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2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@ast
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@en
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@en-gb
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@nl
type
label
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@ast
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@en
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@en-gb
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@nl
prefLabel
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@ast
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@en
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@en-gb
Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@nl
P2093
P2860
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Mutations in TRNT1 cause conge ...... and developmental delay (SIFD)
@en
P2093
Adam D Rudner
Alexis A Thompson
Alison May
Ashley Lau
Caterina P Minniti
Colin Powell
Danielle Durie
Dean R Campagna
Denise K Bonney
Erin K Kennedy
P2860
P304
P3181
P356
10.1182/BLOOD-2014-08-591370
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P50
P577
2014-10-30T00:00:00Z