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 …

Molecular basis of combined pituitary hormone deficiencies

LE Cohen, S Radovick - Endocrine Reviews, 2002 - academic.oup.com
Pituitary gland commitment from oral ectoderm occurs in response to inductive signals from
the neuroepithelium of the ventral diencephalon. Invagination of the oral ectoderm leads to …

Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

I Netchine, ML Sobrier, H Krude, D Schnabel… - Nature …, 2000 - nature.com
Combined pituitary hormone deficiency (CPHD) has been linked with rare abnormalities in
genes encoding transcription factors necessary for pituitary development 1. We have …

ARX spectrum disorders: making inroads into the molecular pathology

C Shoubridge, T Fullston, J Gécz - Human mutation, 2010 - Wiley Online Library
The Aristaless‐related homeobox gene (ARX) is one of the most frequently mutated genes
in a spectrum of X‐chromosome phenotypes with intellectual disability (ID) as their cardinal …

Loss of function and inhibitory effects of human CSX/NKX2. 5 homeoprotein mutations associated with congenital heart disease

H Kasahara, B Lee, JJ Schott… - The Journal of …, 2000 - Am Soc Clin Investig
CSX/NKX2. 5 is an evolutionarily conserved homeodomain-containing (HD-containing)
transcription factor that is essential for early cardiac development. Recently, ten different …

Genetic control of growth

PE Mullis - European journal of endocrinology, 2005 - academic.oup.com
The application of the powerful tool molecular biology has made it possible to ask questions
not only about hormone production and action but also to characterize many of the receptor …

Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301–302delAG) in the prophet of Pit-1 gene

F Pernasetti, SPA Toledo, VV Vasilyev… - The Journal of …, 2000 - academic.oup.com
The Prophet of Pit-1 gene (PROP1) encodes a paired-like homeodomain protein, which is
expressed early in pituitary gland development. When mutated, it is responsible for …

PROP1 Gene Screening in Patients with Multiple Pituitary Hormone Deficiency Reveals Two Sites of Hypermutability and a High Incidence of Corticotroph Deficiency

S Vallette-Kasic, A Barlier, C Teinturier… - The Journal of …, 2001 - academic.oup.com
Alterations of the gene encoding the pituitary transcription factor PROP1 were associated
with congenital forms of multiple pituitary hormone deficiencies in several families. Among …

Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency

R Pfäffle, J Klammt - Best practice & research Clinical endocrinology & …, 2011 - Elsevier
The somatotropic axis is the central postnatal regulator of longitudinal growth. One of its
major components–growth hormone–is produced by the anterior lobe of the pituitary, which …

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort

F De Rienzo, S Mellone, S Bellone, D Babu… - Clinical …, 2015 - Wiley Online Library
Objective Combined pituitary hormonal deficiency (CPHD) can result from mutations within
genes that encode transcription factors. This study evaluated the frequency of mutations in …