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NCKAP1L gene

Known as: NCK associated protein 1 like, HEM1, NCKAP1L 
National Institutes of Health

Papers overview

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2020
2020
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation
Biallelic mutations in NCKAP1L, a regulator of the actin cytoskeleton, cause immunodeficiency, lymphoproliferation, and… 
2020
2020
The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity
HEM1 deficiency causes heritable autoimmunity and immunodeficiency. Tempering lymphocyte activation Diagnosis and treatment of… 
2019
2019
5-Aminolevulinic acid fermentation using engineered Saccharomyces cerevisiae
Background5′-Aminolevulinic acid (ALA) is widely used in the pharmaceutical industry, healthcare, and food production, and is a… 
Review
2010
Review
2010
Hem‐1: Putting the “WAVE” into actin polymerization during an immune response
Highly Cited
2008
Highly Cited
2008
A point mutation in the murine Hem1 gene reveals an essential role for Hematopoietic Protein 1 in lymphopoiesis and innate immunity
Hem1 (Hematopoietic protein 1) is a hematopoietic cell-specific member of the Hem family of cytoplasmic adaptor proteins… 
Highly Cited
2007
Highly Cited
2007
ATM, CTLA4, MNDA, and HEM1 in High versus Low CD38–Expressing B-Cell Chronic Lymphocytic Leukemia
Purpose: In B-cell chronic lymphocytic leukemia (CLL), high CD38 expression has been associated with unfavorable clinical course… 
2005
2005
Identification of genetic markers for fat deposition and meat tenderness on bovine chromosome 5: development of a low-density single nucleotide polymorphism map.
As genetic markers, SNP are well suited for the development of genetic tests for production traits in livestock. They are stable… 
Highly Cited
2003
Highly Cited
2003
Inhibition of Heme Biosynthesis Prevents Transcription of Iron Uptake Genes in Yeast*
Yeast are capable of modifying their metabolism in response to environmental changes. We investigated the activity of the oxygen… 
Highly Cited
1987
Highly Cited
1987
Constitutive expression of the yeast HEM1 gene is actually a composite of activation and repression.
We show that HEM1 (encoding 5-aminolevulinate synthase) expression, while constitutive under all steady-state growth conditions… 
1986
1986
The nine amino-terminal residues of delta-aminolevulinate synthase direct beta-galactosidase into the mitochondrial matrix
delta-Aminolevulinate synthase, the first enzyme in the heme biosynthetic pathway, is encoded by the nuclear gene HEM1. The… 
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