A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency

D Diaczok, C Romero, J Zunich… - The Journal of …, 2008 - academic.oup.com
Context: Combined pituitary hormone deficiency (CPHD) is characterized by deficiencies in
more than one anterior pituitary hormone. Mutations in developmental factors responsible …

Genetic disorders of the pituitary

LE Cohen - Current Opinion in Endocrinology, Diabetes and …, 2012 - journals.lww.com
Development of the pituitary gland and pituitary cell determination and specification depend
on the expression and interaction of signaling molecules and transcription factors in …

Transcription factors regulating pituitary development

JS Parks, MR Brown - Growth Hormone & IGF Research, 1999 - Elsevier
This review will address contributions of nuclear transcription factors to the embryologic
development and definitive function of the anterior pituitary gland. The HESX1, PITX1 …

Pituitary hormone deficiencies due to transcription factor gene alterations

R Reynaud, A Saveanu, A Barlier, A Enjalbert… - Growth hormone & IGF …, 2004 - Elsevier
Mechanisms that control pituitary development are gradually better understood. They
involve molecular signals from surrounding structures and the expression of a cascade of …

Genetic regulation of pituitary gland development in human and mouse

D Kelberman, K Rizzoti, R Lovell-Badge… - Endocrine …, 2009 - academic.oup.com
Normal hypothalamopituitary development is closely related to that of the forebrain and is
dependent upon a complex genetic cascade of transcription factors and signaling molecules …

Novel insights into the aetiology and pathogenesis of hypopituitarism

MT Dattani - Hormone research, 2004 - karger.com
Recent advances in our knowledge of pituitary development, acquired mainly from animal
models, have enhanced our understanding of the aetiology of isolated growth hormone …

Molecular mechanisms of pituitary organogenesis: in search of novel regulatory genes

SW Davis, F Castinetti, LR Carvalho… - Molecular and cellular …, 2010 - Elsevier
Defects in pituitary gland organogenesis are sometimes associated with congenital
anomalies that affect head development. Lesions in transcription factors and signaling …

Panhypopituitarism: genetic versus acquired etiological factors

R Coya, A Vela, G Perez de Nanclares… - Journal of Pediatric …, 2007 - degruyter.com
Objective: Mutations in the genes encoding pituitary transcription factors (mainly PROP1,
POUF1 and HESX1) are responsible for familial combined pituitary hormone deficiency …

Genetic causes of isolated and combined pituitary hormone deficiency

M Giordano - Best Practice & Research Clinical Endocrinology & …, 2016 - Elsevier
Research over the last 20 years has led to the elucidation of the genetic aetiologies of
Isolated Growth Hormone Deficiency (IGHD) and Combined Pituitary Hormone Deficiency …

Lhx4 and Prop1 are required for cell survival and expansion of the pituitary primordia

LT Raetzman, R Ward, SA Camper - 2002 - journals.biologists.com
Deficiencies in the homeobox transcription factors LHX4 and PROP1 cause pituitary
hormone deficiency in both humans and mice. Lhx4 and Prop1 mutants exhibit severe …