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Rare NXN mutations are reported in individuals with recessive Robinow syndrome, which involves mesomelic skeletal dysplasia, short stature, craniofacial dysmorphisms, and incompletely penetrant heart and palate defects. Here we report that Nxn is expressed in the ventral diencephalon and developing pituitary gland, and that Nxn deficient mice have pituitary dysmorphology and craniofacial abnormalities that include defects in the skull base and cleft palate. Nxn mutant mice exhibit reduced WNT signaling and reduced differentiation of pituitary stem cells into hormone-producing cells. These results suggest patients with Robinow syndrome could benefit from evaluation by endocrinologists for pituitary structural imaging and hormone insufficiency.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf032","type":"journal-article","created":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T07:55:34Z","timestamp":1740470134000},"page":"870-881","source":"Crossref","is-referenced-by-count":7,"title":["Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation"],"prefix":"10.1093","volume":"34","author":[{"given":"Michelle L","family":"Brinkmeier","sequence":"first","affiliation":[{"name":"Department of Human Genetics, 5805 Medical Science II, 1241 Catherine St, University of Michigan , Ann Arbor, MI 48109-5618 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard Y M","family":"Cheung","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, 5805 Medical Science II, 1241 Catherine St, University of Michigan , Ann Arbor, MI 48109-5618 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean P","family":"O'Connell","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, 715 Sumter St, CLS room 401, University of South Carolina , Columbia, SC 29208 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana K","family":"Gutierrez","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, 715 Sumter St, CLS room 401, University of South Carolina , Columbia, SC 29208 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eve C","family":"Rhoads","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, 5805 Medical Science II, 1241 Catherine St, University of Michigan , Ann Arbor, MI 48109-5618 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally A","family":"Camper","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, 5805 Medical Science II, 1241 Catherine St, University of Michigan , Ann Arbor, MI 48109-5618 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7354-5691","authenticated-orcid":false,"given":"Shannon W","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, 715 Sumter St, CLS room 401, University of South Carolina , Columbia, SC 29208 ,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,3,5]]},"reference":[{"key":"2025050702471110200_ref1","doi-asserted-by":"crossref","first-page":"379","DOI":"10.3109\/10715761003610745","article-title":"Redox regulation of Wnt signalling via nucleoredoxin","volume":"44","author":"Funato","year":"2010","journal-title":"Free Radic Res"},{"key":"2025050702471110200_ref2","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1006\/geno.1996.4493","article-title":"Cloning and characterization of the nucleoredoxin gene that encodes a novel nuclear protein related to thioredoxin","volume":"39","author":"Kurooka","year":"1997","journal-title":"Genomics"},{"key":"2025050702471110200_ref3","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1038\/ncb1405","article-title":"The thioredoxin-related redox-regulating protein nucleoredoxin inhibits Wnt-beta-catenin signalling through dishevelled","volume":"8","author":"Funato","year":"2006","journal-title":"Nat Cell Biol"},{"key":"2025050702471110200_ref4","doi-asserted-by":"publisher","DOI":"10.3390\/antiox11040670","article-title":"Is Nucleoredoxin a master regulator of cellular redox homeostasis? 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