Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
about
The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymesA model 450 million years in the making: zebrafish and vertebrate immunityAdenylate kinase and AMP signaling networks: metabolic monitoring, signal communication and body energy sensingMissing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in ChildhoodCell death and survival through the endoplasmic reticulum-mitochondrial axisInborn errors of the development of human natural killer cellsThe inherited bone marrow failure syndromesGenetics of SCIDMultisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11BCongenital neutropenia: diagnosis, molecular bases and patient management.Bovine neonatal pancytopenia--comparative proteomic characterization of two BVD vaccines and the producer cell surface proteome (MDBK).Developmental enhancement of adenylate kinase-AMPK metabolic signaling axis supports stem cell cardiac differentiation.Clinical experience in T cell deficient patientsTelomere dysfunction induces metabolic and mitochondrial compromise.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 lineagesAdenylate kinase 2 links mitochondrial energy metabolism to the induction of the unfolded protein response.Neutropenia in the newborn.Differential expression of adenine nucleotide converting enzymes in mitochondrial intermembrane space: a potential role of adenylate kinase isozyme 2 in neutrophil differentiationOral 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 spectrometryIncidental medical information in whole-exome sequencing.Characterisation of Neutropenia-Associated Neutrophil Elastase Mutations in a Murine Differentiation Model In Vitro and In Vivo.Animal models of human granulocyte diseases.Modulation of anti-cancer drug sensitivity through the regulation of mitochondrial activity by adenylate kinase 4.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.Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency.Severe combined immunodeficiences: new and old scenarios.From murine to human nude/SCID: the thymus, T-cell development and the missing link.Primary antibody deficiencies.New genetic discoveries and primary immune deficiencies.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.Understanding chronic neutropenia: life is short.Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.
P2860
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P2860
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Reticular dysgenesis (aleukocy ...... ochondrial adenylate kinase 2.
@ast
Reticular dysgenesis (aleukocy ...... ochondrial adenylate kinase 2.
@en
Reticular dysgenesis
@nl
type
label
Reticular dysgenesis (aleukocy ...... ochondrial adenylate kinase 2.
@ast
Reticular dysgenesis (aleukocy ...... ochondrial adenylate kinase 2.
@en
Reticular dysgenesis
@nl
prefLabel
Reticular dysgenesis (aleukocy ...... ochondrial adenylate kinase 2.
@ast
Reticular dysgenesis (aleukocy ...... ochondrial adenylate kinase 2.
@en
Reticular dysgenesis
@nl
P2093
P2860
P356
P1433
P1476
Reticular dysgenesis (aleukocy ...... ochondrial adenylate kinase 2.
@en
P2093
Ansgar Schulz
Claudia Friesen
Eva-Maria Rump
Isabell Hess
Karlheinz Holzmann
Klaus Schwarz
Manfred Hönig
Thomas Boehm
Thomas F Barth
Ulrich Pannicke
P2860
P2888
P304
P356
10.1038/NG.265
P407
P577
2008-11-30T00:00:00Z
P5875
P6179
1051641806