Genetics of combined pituitary hormone deficiency: roadmap into the genome era

Q Fang, AS George, ML Brinkmeier… - Endocrine …, 2016 - academic.oup.com
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis 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 …

[HTML][HTML] Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

D Kelberman, K Rizzoti, A Avilion… - The Journal of clinical …, 2006 - jci.org
The transcription factor SOX2 is expressed most notably in the develo** CNS and
placodes, where it plays critical roles in embryogenesis. Heterozygous de novo mutations in …

Molecular physiology of pituitary development: signaling and transcriptional networks

X Zhu, AS Gleiberman… - Physiological …, 2007 - journals.physiology.org
The pituitary gland is a central endocrine organ regulating basic physiological functions,
including growth, the stress response, reproduction, metabolic homeostasis, and lactation …

Septo-optic dysplasia

EA Webb, MT Dattani - European Journal of Human Genetics, 2010 - nature.com
This review summarises the key clinical features of septo-optic dysplasia (SOD), the
significant inroads that progress in genetics has made into our understanding of the …

Recent advances in central congenital hypothyroidism

N Schoenmakers, KS Alatzoglou… - Journal of …, 2015 - joe.bioscientifica.com
Obesity is an escalating epidemic, but an effective noninvasive therapy is still scarce. For
obesity treatment, anorexigenic neuropeptides are promising tools, but their delivery from …

[HTML][HTML] Cellular and molecular specificity of pituitary gland physiology

C Perez-Castro, U Renner, MR Haedo… - Physiological …, 2012 - journals.physiology.org
The anterior pituitary gland has the ability to respond to complex signals derived from central
and peripheral systems. Perception of these signals and their integration are mediated by …

SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

D Kelberman, SCP De Castro, S Huang… - The Journal of …, 2008 - academic.oup.com
Context: Heterozygous, de novo mutations in the transcription factor SOX2 are associated
with bilateral anophthalmia or severe microphthalmia and hypopituitarism. Variable …

Development of the pituitary gland

KS Alatzoglou, LC Gregory… - Comprehensive …, 2020 - discovery.ucl.ac.uk
The development of the anterior pituitary gland occurs in distinct sequential developmental
steps, leading to the formation of a complex organ containing five different cell types …

Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond

MJ McCabe, KS Alatzoglou, MT Dattani - Best practice & research Clinical …, 2011 - Elsevier
Septo-optic dysplasia (SOD) is a highly heterogeneous condition comprising variable
phenotypes including midline and forebrain abnormalities, optic nerve and pituitary …