FOXN1 mutation abrogates prenatal T-cell development in humans | Zendy

Ilaria Vigliano | Zendy; Marisa Gorrese | Zendy; Anna Fusco | Zendy; Laura Vitiello | Zendy; Stefania Amorosi | Zendy; Luigi Panico | Zendy; Matilde Valeria Ursini | Zendy; Giuseppe Calcagno | Zendy; Luigi Racioppi | Zendy; Luigi Del Vecchio | Zendy; Claudio Pignata | Zendy

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FOXN1 mutation abrogates prenatal T-cell development in humans

Author(s) -

Ilaria Vigliano,

Marisa Gorrese,

Anna Fusco,

Laura Vitiello,

Stefania Amorosi,

Luigi Panico,

Matilde Valeria Ursini,

Giuseppe Calcagno,

Luigi Racioppi,

Luigi Del Vecchio,

Claudio Pignata

Publication year - 2011

Publication title -

journal of medical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.439

H-Index - 170

eISSN - 1468-6244

pISSN - 0022-2593

DOI - 10.1136/jmg.2011.089532

Subject(s) - cd8 , lymphopoiesis , biology , t cell , t cell receptor , severe combined immunodeficiency , cd3 , microbiology and biotechnology , immunology , cancer research , genetics , antigen , stem cell , gene , immune system , haematopoiesis

The transcription factor FOXN1 is implicated in the differentiation of thymic and skin epithelial cells, and alterations in it are responsible for the Nude/SCID phenotype. During a genetic counselling programme offered to couples at risk in a community where a high frequency of mutated FOXN1 had been documented, the identification of a human FOXN1(-/-) fetus gave the unique opportunity to study T cell development in utero.

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