Concepedia

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome

Craig L. Bennett, Mary E. Brunkow, Fred Ramsdell, Kathy O'Briant, Qili Zhu, Ramsay Fuleihan, Ann O. Shigeoka, Hans D. Ochs, Phillip F. Chance

Immunogenetics · 2001 · 243 citations · 14 references

DOI

Concepts

References

14

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

Craig L. Bennett, Jacinda R. Christie, Fred Ramsdell et al. · Nature Genetics · 2001 · 3.4K citations

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JM2, encoding a fork head–related protein, is mutated in X-linked autoimmunity–allergic disregulation syndrome

Talal A. Chatila, Frank Blaeser, Nga Ho et al. · Journal of Clinical Investigation · 2000 · 931 citations · Full text

, , +17

Patterns of Variant Polyadenylation Signal Usage in Human Genes

Emmanuel Beaudoing, Susan M. Freier, Jacqueline R. Wyatt et al. · Genome Research · 2000 · 699 citations · Full text

, , +16

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy

Berkley R. Powell, Neil R.M. Buist, Peter Stenzel · The Journal of Pediatrics · 1982 · 448 citations

, , +14

The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.

Mary F. Lyon, Jo Peters, P. H. Glenister et al. · Proceedings of the National Academy of Sciences · 1990 · 196 citations

, , +11