A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.
about
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropeniaRagulator-Rag complex targets mTORC1 to the lysosomal surface and is necessary for its activation by amino acidsDigenic mutations in severe congenital neutropeniaPrimary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification CommitteeA syndrome with congenital neutropenia and mutations in G6PC3Conserved regulators of Rag GTPases orchestrate amino acid-dependent TORC1 signalingClinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinismCongenital defects in neutrophil dynamicsAmino acids and mTORC1: from lysosomes to diseaseRegulation of mTORC1 by amino acidsBeyond indigestion: emerging roles for lysosome-based signaling in human diseaseNeutrophils: Between host defence, immune modulation, and tissue injuryThe novel lipid raft adaptor p18 controls endosome dynamics by anchoring the MEK-ERK pathway to late endosomes.Epidermal growth factor stimulates extracellular-signal regulated kinase phosphorylation of a novel site on cytoplasmic Dynein intermediate chain 2Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.The late endosomal adaptor molecule p14 (LAMTOR2) represents a novel regulator of Langerhans cell homeostasis.Congenital neutropenia: diagnosis, molecular bases and patient management.Modified lentiviral LTRs allow Flp recombinase-mediated cassette exchange and in vivo tracing of "factor-free" induced pluripotent stem cells.GATA1s induces hyperproliferation of eosinophil precursors in Down syndrome transient leukemia.Outcome and management of pregnancies in severe chronic neutropenia patients by the European Branch of the Severe Chronic Neutropenia International Registry.LAMTOR2 regulates dendritic cell homeostasis through FLT3-dependent mTOR signallingFamilial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory responseNutrient-sensing mechanisms and pathways.LAMTOR2-mediated modulation of NGF/MAPK activation kinetics during differentiation of PC12 cellsThe phenotype of human STK4 deficiency.Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts.Late endosomal traffic of the epidermal growth factor receptor ensures spatial and temporal fidelity of mitogen-activated protein kinase signalingA complex immunodeficiency is based on U1 snRNP-mediated poly(A) site suppression.Scaffold mediated regulation of MAPK signaling and cytoskeletal dynamics: a perspective.Multiple amino acid sensing inputs to mTORC1.Lysosome-related organelles: driving post-Golgi compartments into specialisation.Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.A congenital neutrophil defect syndrome associated with mutations in VPS45.Neutropenia in primary immunodeficiencyGenetic and molecular diagnosis of severe congenital neutropenia.The coming of age of axonal neurotrophin signaling endosomes.Neutropenia and primary immunodeficiency diseases.Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).Endocytosis and signaling: cell logistics shape the eukaryotic cell plan.
P2860
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P2860
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
A novel human primary immunode ...... endosomal adaptor protein p14.
@en
A novel human primary immunode ...... endosomal adaptor protein p14.
@nl
type
label
A novel human primary immunode ...... endosomal adaptor protein p14.
@en
A novel human primary immunode ...... endosomal adaptor protein p14.
@nl
prefLabel
A novel human primary immunode ...... endosomal adaptor protein p14.
@en
A novel human primary immunode ...... endosomal adaptor protein p14.
@nl
P2093
P2860
P50
P356
P1433
P1476
A novel human primary immunode ...... endosomal adaptor protein p14
@en
P2093
Alejandro A Schäffer
Anna Allroth
Bodo Grimbacher
Chozhavendan Rathinam
Christoph Klein
Cornelia Zeidler
Erik Glocker
Georg Bohn
Gudrun Brandes
P2860
P2888
P356
10.1038/NM1528
P407
P577
2006-12-31T00:00:00Z