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Natural Killer Cell Deficiency, Familial Isolated
Known as:
NKCD
, NKGCD
, Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect
A congenital condition characterized by growth retardation, a decreased number of NK cells, glucocorticoid deficiency, and increased chromosome…
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National Institutes of Health
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Related topics
Related topics
8 relations
Adrenal gland hypofunction
Autosomal recessive inheritance
Fetal Growth Retardation
Hyperpigmentation
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Broader (1)
Immunologic Deficiency Syndromes
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.
Michael Wey
,
Jungwoon Lee
,
S. Jeong
,
Jungho Kim
,
J. Heo
Biochemistry
2013
Corpus ID: 10126262
Costello syndrome is linked to activating mutations of a residue in the p-loop or the NKCD/SAK motifs of Harvey Ras (HRas). More…
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Highly Cited
2005
Highly Cited
2005
Mechanism of free radical nitric oxide-mediated Ras guanine nucleotide dissociation.
J. Heo
,
Kirk C. Prutzman
,
V. Mocanu
,
S. Campbell
Journal of molecular biology
2005
Corpus ID: 25860544
Highly Cited
2005
Highly Cited
2005
Superoxide Anion Radical Modulates the Activity of Ras and Ras-related GTPases by a Radical-based Mechanism Similar to That of Nitric Oxide*
J. Heo
,
S. Campbell
Journal of Biological Chemistry
2005
Corpus ID: 23039009
Ras GTPases cycle between inactive GDP-bound and active GTP-bound states to modulate a diverse array of processes involved in…
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1993
1993
Nucleotide sequence of the cDNA encoding silk gland elongation factor 1 alpha.
K. Kamiie
,
H. Taira
,
+4 authors
T. Katsuṁata
Nucleic acids research
1993
Corpus ID: 17948303
Most of eukaryotic elongation factor 1 (EF-1) consists of four subunits, EF-la, -/S, -0', and -7, as shown in silk gland, wheat…
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