| 1 | FOXN1, WHN
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| Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
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| Bosticardo M, Yamazaki Y, Cowan J, Giardino G, Corsino C, Scalia G, Prencipe R, Ruffner M, Hill DA, Sakovich I, Yemialyanava I, Tam JS, Padem N, Elder ME, Sleasman JW, Perez E, Niebur H, Seroogy CM, Sharapova S, Gebbia J, Kleiner GI, Peake J, Abbott JK, Gelfand EW, Crestani E, Biggs C, Butte MJ, Hartog N, Hayward A, Chen K, Heimall J, Seeborg F, Bartnikas LM, Cooper MA, Pignata C, Bhandoola A, Notarangelo LD.
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| Am J Hum Genet 105(3):549-561. doi: 10.1016/j.ajhg.2019.07.014. Epub 2019 Aug 22.
2019
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| 2 | FOXN1, WHN
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| FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans.
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| Du Q, Huynh LK, Coskun F, Molina E, King MA, Raj P, Khan S, Dozmorov I, Seroogy CM, Wysocki CA, Padron GT, Yates TR, Markert ML, de la Morena MT, van Oers NS.
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| J Clin Invest Clin Invest. 2019 Sep 30. pii: 127565. doi: 10.1172/JCI127565. [Epub ahead of print]
2019
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| 3 | FOXN1, WHN
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| A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency.
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| Firtina S, Cipe F, Ng YY, Kiykim A, Ng OH, Sudutan T, Aydogmus C, Baris S, Ozturk G, Aydiner E, Ozen A, Sayitoglu M.
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| J Clin Immunol 39(2):144-147. doi: 10.1007/s10875-019-00615-6. Epub 2019 Mar 22. No abstract available.
2019
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| 4 | FOXN1, WHN
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| Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice.
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| Ruan L, Zhang Z, Mu L, Burnley P, Wang L, Coder B, Zhuge Q, Su DM.
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| Cell Death Dis 5:e1457. doi: 10.1038/cddis.2014.432.
2014
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| 5 | FOXN1, WHN
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| Human clinical phenotype associated with FOXN1 mutations.
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| Pignata C, Fusco A, Amorosi S.
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| Adv Exp Med Biol 665:195-206. Review.
2009
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| 6 | FOXN1, WHN
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| FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus.
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| Amorosi S, D'Armiento M, Calcagno G, Russo I, Adriani M, Christiano AM, Weiner L, Brissette JL, Pignata C.
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| Clin Genet 73(4):380-4. 2008
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| 7 | FOXN1, WHN
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| Ancestral Founder Mutation of the Nude (FOXN1) Gene in Congenital Severe Combined Immunodeficiency Associated with Alopecia in Southern Italy Population.
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| Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C.
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| Ann Hum Genet 68(Pt 3):265-8. 2004
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