Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects.

Kaygusuz S. B., Arslan Ates E., Vignola M. L., Volkan B., Geckinli B. B., Turan S., ...Daha Fazla

The Journal of clinical endocrinology and metabolism, cilt.106, sa.10, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 106 Sayı: 10
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1210/clinem/dgab352
  • Dergi Adı: The Journal of clinical endocrinology and metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, BIOSIS, CAB Abstracts, Chemical Abstracts Core, CINAHL, EMBASE, Food Science & Technology Abstracts, Gender Studies Database, MEDLINE, Veterinary Science Database
  • Anahtar Kelimeler: FOXA2, congenital hypopituitarism, diabetes, hyperinsulinism, pancreatic hypoplasia, abdominal heterotaxy, DEVELOPMENTAL DELAY, SONIC HEDGEHOG, MUTATION, DELETION, PANHYPOPITUITARISM, HYPOPITUITARISM, 20P, HYPERINSULINISM, HNF-3-BETA, PATHWAYS
  • Marmara Üniversitesi Adresli: Evet

Özet

Context: Developmental disorders of the pituitary gland leading to congenital hypopituitarism can either be isolated or associated with extrapituitary abnormalities (syndromic hypopituitarism). A large number of syndromic hypopituitarism cases are linked to mutations in transcription factors. The forkhead box A2 (FOXA2) is a transcription factor that plays a key role in the central nervous system, foregut, and pancreatic development.