未知のR112X変異を伴ったPROP1遺伝子異常症で,成長ホルモン補充療法を開始した日本人男性の一例
Congenital combined pituitary hormone deficiency (CPHD) is associated with deficiencies of anterior pituitary hormones. PROP1 gene mutations are often responsible for CPHD, but few such cases have been reported in Japan.
Shimatsu, Akira +17 more
core
Loss of primary cilia in late pituitary organogenesis does not cause endocrine dysfunction. [PDF]
Byun K +4 more
europepmc +1 more source
Structural basis for the carboxylation and epoxidation of human gamma-glutamyl carboxylase. [PDF]
Zhang W, Chen Q, Zhang B, Qian H.
europepmc +1 more source
Primary cilia and BBS4 are required for postnatal pituitary development. [PDF]
Brewer KM +5 more
europepmc +1 more source
Emerging human cell-based in vitro models for studying pituitary development and disorders. [PDF]
Matsumoto R +3 more
europepmc +1 more source
Role of PROP1 in Postnatal Pituitary Gland Maturation. [PDF]
Winningham AH +6 more
europepmc +1 more source
A Novel LHX3 Variant Associated With Combined Pituitary Hormone Deficiency in an Indian Kindred. [PDF]
Palaniappan S +4 more
europepmc +1 more source
Management of hypopituitarism during pregnancy in patients with PROP1-related combined pituitary hormone deficiency: Review of the literature with a case report. [PDF]
Pigni S +9 more
europepmc +1 more source
<i>Spodoptera exigua</i> Caspase-4 Enhances the Virulence of Baculovirus by Promoting Host Cell Apoptosis. [PDF]
Yu Q +6 more
europepmc +1 more source
Mixed gangliocytoma-pituitary neuroendocrine tumour: clinical, immunohistochemical, and molecular genetic profiles in a series of four patients. [PDF]
Dalakas K +10 more
europepmc +1 more source

