AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus

TURKKAHRAMAN, Doga; Saglar, EMEL; Karaduman, TUĞÇE; MERGEN, HATİCE

doi:10.1007/s11102-015-0668-z

AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus

TURKKAHRAMAN D., Saglar E., Karaduman T., MERGEN H.

PITUITARY, cilt.18, sa.6, ss.898-904, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 18 Sayı: 6
Basım Tarihi: 2015
Doi Numarası: 10.1007/s11102-015-0668-z
Dergi Adı: PITUITARY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.898-904
Anahtar Kelimeler: Familial central diabetes insipidus, AVP-NPII gene, Mutation, NEUROPHYSIN-II GENE, MUTANT VASOPRESSIN PRECURSORS, SWISS-MODEL, ARGININE-VASOPRESSIN, IDENTIFICATION, SECRETION
Hacettepe Üniversitesi Adresli: Evet

Özet

Background Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin-neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.