Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness - Wikidata - wikimedia - TriplyDB

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

http://www.wikidata.org/entity/Q24655619

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The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes Adenylate kinase and AMP signaling networks: metabolic monitoring, signal communication and body energy sensing Advances of gene therapy for primary immunodeficiencies Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood Inborn errors of the development of human natural killer cells Powering the immune system: mitochondria in immune function and deficiency Genetics of SCID Discovering hematopoietic mechanisms through genome-wide analysis of GATA factor chromatin occupancy Congenital neutropenia: diagnosis, molecular bases and patient management.Developmental enhancement of adenylate kinase-AMPK metabolic signaling axis supports stem cell cardiac differentiation.Gene transfer into hematopoietic stem cells as treatment for primary immunodeficiency diseases.Adenylate kinase 2 (AK2) promotes cell proliferation in insect development.AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages Adenylate kinase 2 links mitochondrial energy metabolism to the induction of the unfolded protein response.Conformational dynamics of a ligand-free adenylate kinase.Differential expression of adenine nucleotide converting enzymes in mitochondrial intermembrane space: a potential role of adenylate kinase isozyme 2 in neutrophil differentiation Oral cancer cells may rewire alternative metabolic pathways to survive from siRNA silencing of metabolic enzymes.Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress.Dynamic phosphometabolomic profiling of human tissues and transgenic models by 18O-assisted ³¹P NMR and mass spectrometry Decline of Phosphotransfer and Substrate Supply Metabolic Circuits Hinders ATP Cycling in Aging Myocardium.Growth factor independence 1 (Gfi1) regulates cell-fate decision of a bipotential granulocytic-monocytic precursor defined by expression of Gfi1 and CD48.Animal models of human granulocyte diseases.Modulation of anti-cancer drug sensitivity through the regulation of mitochondrial activity by adenylate kinase 4.The genetic basis of severe combined immunodeficiency and its variants.First reported case of Omenn syndrome in a patient with reticular dysgenesis.Neutropenia and primary immunodeficiency diseases.The DUSP26 phosphatase activator adenylate kinase 2 regulates FADD phosphorylation and cell growth.Gene therapy for primary immune deficiencies: a Canadian perspective.Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.Severe combined immunodeficiences: new and old scenarios.From murine to human nude/SCID: the thymus, T-cell development and the missing link.Metastasis-associated cell surface oncoproteomics.Haematopoietic stem cell transplantation for SCID patients: where do we stand?Primary antibody deficiencies.Modern management of primary T-cell immunodeficiencies.Inborn errors of metabolism underlying primary immunodeficiencies.Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies.Primary immunodeficiencies: a decade of shifting paradigms, the current status and the emergence of cutting-edge therapies and diagnostics.Severe combined immunodeficiency--an update.Simple oxygraphic analysis for the presence of adenylate kinase 1 and 2 in normal and tumor cells.

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P2860

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

http://www.wikidata.org/entity/Q24655619

description

2009 nî lūn-bûn

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2009 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2009 թվականի հունվարին հրատարակված գիտական հոդված

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2009年の論文

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Human adenylate kinase 2 defic ...... ed with sensorineural deafness

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Human adenylate kinase 2 defic ...... ed with sensorineural deafness

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Human adenylate kinase 2 defic ...... ed with sensorineural deafness

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Human adenylate kinase 2 defic ...... ed with sensorineural deafness

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Human adenylate kinase 2 defic ...... ed with sensorineural deafness

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Human adenylate kinase 2 defic ...... ed with sensorineural deafness

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Human adenylate kinase 2 defic ...... ed with sensorineural deafness

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Human adenylate kinase 2 defic ...... ed with sensorineural deafness

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Alina Ferster

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Chantal Lagresle-Peyrou

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Corinne Demerens-de Chappedelaine

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Céline Besse

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Estelle Morillon

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P2860

Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Specific ablation of the apoptotic functions of cytochrome C reveals a differential requirement for cytochrome C and Apaf-1 in apoptosis

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

Different mitochondrial intermembrane space proteins are released during apoptosis in a manner that is coordinately initiated but can vary in duration.

Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis.

cDNA cloning and tissue-specific expression of the gene encoding human adenylate kinase isozyme 2.

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.

Release of adenylate kinase 2 from the mitochondrial intermembrane space during apoptosis.

Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review.

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10.1038/NG.278

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1

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41

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Marina Cavazzana-Calvo

Capucine Picard

Emmanuelle M. Six

Frédéric Rieux-Laucat

Chantal Lagresle-Peyrou

Christine Petit

James C Mullikin

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2009-01-01T00:00:00Z

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2612090

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