Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function


Guran T. , Guran O., Paketci C., Kipoglu O., Firat I., Turan S. , ...Daha Fazla

PITUITARY, cilt.18, sa.4, ss.456-460, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Konu: 4
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s11102-014-0594-5
  • Dergi Adı: PITUITARY
  • Sayfa Sayıları: ss.456-460

Özet

Stuve-Wiedemann syndrome (STWS) (MIM #601559) is a rare autosomal recessive disorder caused by mutations in the leukemia inhibitory factor receptor (LIFR) gene. STWS has a diverse range of clinical features involving hematopoietic, skeletal, neuronal and immune systems. STWS manifests a high mortality due to increased risk of sudden death. Heterodimerization of the LIFR mediates leukemia inhibitory factor (LIF) signalling through the intracellular Janus kinase (JAK)/STAT3 signalling cascade. The LIF/LIFR system is highly expressed in and regulates the hypothalamo-pituitary-adrenal (HPA) axis.