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Article
Open AccessCorrection to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature
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Living Reference Work Entry In depth
DC Side Harmonics and Filters for LCC and VSC HVDC Converter Stations
This chapter focusses on the DC side of HVDC converters, and all the aspects which have to be considered regarding the understanding of harmonic phenomena, the analysis of harmonic distortion and its effects, ...
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Article
Open AccessA Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature
Lymphocyte-specific protein tyrosine kinase (LCK) is an SRC-family kinase critical for initiation and propagation of T-cell antigen receptor (TCR) signaling through phosphorylation of TCR-associated CD3 chains...
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Living Reference Work Entry In depth
Procurement and Functional Specification of HVDC Systems
This chapter describes the procurement and technical specifications for HVDC systems. It includes discussion on types of contracts/commercial conditions, functional specifications specifying environmental data...
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Article
Open AccessValosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses
NOD2 polymorphisms may affect sensing of the bacterial muramyl dipeptide (MDP) and trigger perturbed inflammatory responses. Genetic screening of a patient with immunodeficiency and enteropathy revealed a rare...
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Article
Open AccessLineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency
Bi-allelic variants in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency, characterized by recurrent sinopulmonary and skin infections, food allergies, eczema, eosinophilia, and elevat...
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Article
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency
NEMO-deficient patients present with variable degrees of immunodeficiency. Accordingly, treatment ranges from antibiotic prophylaxis and/or IgG-substitution to allogenic hematopoietic stem cell transplantation...
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Reference Work Entry In depth
Procurement and Functional Specifications for FACTS Controllers
This chapter describes the procurement and technical specifications for FACTS controllers. It includes discussion of types of contracts/commercial conditions, functional specifications specifying environmental...
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Living Reference Work Entry In depth
Procurement and Functional Specifications for FACTS Controllers
This chapter describes the procurement and technical specifications for FACTS controllers. It includes discussion of types of contracts/commercial conditions, functional specifications specifying environmental...
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Reference Work Entry In depth
Commissioning of FACTS Controllers
The purpose of commissioning is to establish that the installed FACTS controller performs as expected and complies with the specified and expected performance requirements, culminating with grid compliance tes...
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Reference Work Entry In depth
Lifetime Management of FACTS Controllers
A FACTS Controller is an important part of an integrated AC network. It is important that it continues to operate at high reliability and availability. This chapter provides information on operating and mainta...
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Living Reference Work Entry In depth
Commissioning of FACTS Controllers
The purpose of commissioning is to establish that the installed FACTS controller performs as expected and complies with the specified and expected performance requirements, culminating with grid compliance tes...
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Article
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
Transforming growth factor (TGF)-β1 (encoded by TGFB1) is the prototypic member of the TGF-β family of 33 proteins that orchestrate embryogenesis, development and tissue homeostasis1,2. Following its discovery ...
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Living Reference Work Entry In depth
Lifetime Management of FACTS Controllers
A FACTS Controller is an important part of an integrated AC network. It is important that it continues to operate at high reliability and availability. This chapter provides information on operating and mainta...
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Article
Open AccessThe leukemogenic fusion gene MLL-AF9 alters microRNA expression pattern and inhibits monoblastic differentiation via miR-511 repression
In this study we explored the role of microRNAs (miRNAs) as mediators of leukemogenic effects of the fusion gene MLL-AF9, which results from a frequent chromosomal translocation in infant and monoblastic acute my...
