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 …

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 …

Growth hormone receptor; mechanism of action

AJ Brooks, JW Wooh, KA Tunny, MJ Waters - The international journal of …, 2008 - Elsevier
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 …

STAT5b deficiency: lessons from STAT5b gene mutations

V Hwa, K Nadeau, JM Wit, RG Rosenfeld - Best practice & research …, 2011 - Elsevier
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 …

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 …

An evolving perspective about the origins of childhood undernutrition and nutritional interventions that includes the gut microbiome

T Ahmed, D Auble, JA Berkley, R Black… - Annals of the New …, 2014 - Wiley Online Library
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 …

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 …

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 …

[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 …

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 …