Immunodeficiency syndrome, variable

Known as: IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, CIID 
 
National Institutes of Health

Related topics

Related topics

15 relations
Autosomal recessive inheritanceBronchiectasisBronchitis, ChronicDNMT3B, EX21-22DEL
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Broader (2)

FaceImmunologic Deficiency Syndromes

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Highly Cited
2011
Highly Cited
2011
Cleavage of cohesin rings coordinates the separation of centrioles and chromatids
Cohesin pairs sister chromatids by forming a tripartite Scc1–Smc1–Smc3 ring around them. In mitosis, cohesin is removed from… (More)
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Highly Cited
2004
Highly Cited
2004
Centromere-encoded RNAs are integral components of the maize kinetochore.
RNA is involved in a variety of chromatin modification events, ranging from large-scale structural rearrangements to subtle local… (More)
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Highly Cited
2002
Highly Cited
2002
Centromeric retroelements and satellites interact with maize kinetochore protein CENH3.
Maize centromeres are composed of CentC tandem repeat arrays, centromeric retrotransposons (CRs), and a variety of other repeats… (More)
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Highly Cited
1999
Highly Cited
1999
A Functional Enhancer Suppresses Silencing of a Transgene and Prevents Its Localization Close to Centromeric Heterochromatin
To explore the mechanism by which enhancers maintain gene expression, we have assessed the ability of an enhancer and derivative… (More)
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Highly Cited
1998
Highly Cited
1998
Helios, a T cell-restricted Ikaros family member that quantitatively associates with Ikaros at centromeric heterochromatin.
The Ikaros gene encodes multiple protein isoforms that contribute critical functions during the development of lymphocytes and… (More)
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Highly Cited
1998
Highly Cited
1998
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
The autosomal recessive neuromuscular disorder proximal spinal muscular atrophy (SMA) is caused by the loss or mutation of the… (More)
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Highly Cited
1997
Highly Cited
1997
Association of Transcriptionally Silent Genes with Ikaros Complexes at Centromeric Heterochromatin
Ikaros proteins are required for normal T, B, and NK cell development and are postulated to activate lymphocyte-specific gene… (More)
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Highly Cited
1996
Highly Cited
1996
DNA methylation specifies chromosomal localization of MeCP2.
MeCP2 is a chromosomal protein that is concentrated in the centromeric heterochromatin of mouse cells. In vitro, the protein… (More)
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Highly Cited
1972
Highly Cited
1972
A simple technique for demonstrating centromeric heterochromatin.
 
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Highly Cited
1970
Highly Cited
1970
The rapid intermixing of cell surface antigens after formation of mouse-human heterokaryons.
Cells from established tissue culture lines of mouse {CIID) and human (VA-2) origin were fused together with Sendai virus… (More)
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