Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology
DC Bittel, MG Butler - Expert reviews in molecular medicine, 2005 - cambridge.org
Prader–Willi syndrome (PWS) is a neurodevelopmental disorder that arises from lack of
expression of paternally inherited genes known to be imprinted and located in the …
expression of paternally inherited genes known to be imprinted and located in the …
Growth hormone and its disorders
J Ayuk, MC Sheppard - Postgraduate medical journal, 2006 - academic.oup.com
Growth hormone (GH) is synthesised and secreted by the somatotroph cells of the anterior
lobe of the pituitary gland. Its actions involve multiple organs and systems, affecting …
lobe of the pituitary gland. Its actions involve multiple organs and systems, affecting …
Growth hormone receptor; mechanism of action
The growth hormone receptor has been an archetype for ligand-induced receptor
dimerisation in cytokine receptor signalling. However, we now know that it exists as a …
dimerisation in cytokine receptor signalling. However, we now know that it exists as a …
STAT5b deficiency: lessons from STAT5b gene mutations
Growth hormone (GH) regulates insulin-like growth factor (IGF)-I production primarily
through activation of the GH receptor (GHR)-signal transducer and activator of transcription …
through activation of the GH receptor (GHR)-signal transducer and activator of transcription …
Nonclassical GH insensitivity: characterization of mild abnormalities of GH action
HL Storr, S Chatterjee, LA Metherell, C Foley… - Endocrine …, 2019 - academic.oup.com
GH insensitivity (GHI) presents in childhood with growth failure and in its severe form is
associated with extreme short stature and dysmorphic and metabolic abnormalities. In …
associated with extreme short stature and dysmorphic and metabolic abnormalities. In …
An evolving perspective about the origins of childhood undernutrition and nutritional interventions that includes the gut microbiome
The Sackler Institute for Nutrition Science and the World Health Organization (WHO) have
worked together to formulate a research agenda for nutrition science. Undernutrition of …
worked together to formulate a research agenda for nutrition science. Undernutrition of …
Mutation analysis of POUF‐1, PROP‐1 and HESX‐1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and …
LA Rainbow, SA Rees, MG Shaikh… - Clinical …, 2005 - Wiley Online Library
Objectives Mutations in the genes encoding the transcription factors PROP1 and POUF‐1
(Pit‐1) have been reported as common causes of combined pituitary hormone deficiency …
(Pit‐1) have been reported as common causes of combined pituitary hormone deficiency …
Genetic evaluation of short stature
JM Wit, W Kiess, P Mullis - Best Practice & Research Clinical Endocrinology …, 2011 - Elsevier
After a proper medical history, growth analysis and physical examination of a short child,
followed by radiological and laboratory screening, the clinician may decide to perform …
followed by radiological and laboratory screening, the clinician may decide to perform …
[PDF][PDF] -Growth hormone therapy in children and adults.
R Krysiak, A Gdula-Dymek, B Okopien - Pharmacological Reports, 2007 - if-pan.krakow.pl
Growth hormone (GH) is a polypeptide hormone, secreted by somatotropic cells of the
anterior part of the hypophysis. Its application in therapy, first limited to GH deficient children …
anterior part of the hypophysis. Its application in therapy, first limited to GH deficient children …
Novel HESX1 Mutations Associated with a Life-Threatening Neonatal Phenotype, Pituitary Aplasia, but Normally Located Posterior Pituitary and No Optic Nerve …
ML Sobrier, M Maghnie, MP Vié-Luton… - The Journal of …, 2006 - academic.oup.com
Context: Hesx1 is one of the earliest homeodomain transcription factors expressed during
pituitary development. Very few HESX1 mutations have been identified in humans; although …
pituitary development. Very few HESX1 mutations have been identified in humans; although …