Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

B Cangiano, DS Swee, R Quinton, M Bonomi - Human genetics, 2021 - Springer
A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …

[HTML][HTML] Physiology of GNRH and gonadotropin secretion

P Marques, K Skorupskaite, KS Rozario… - Endotext …, 2022 - ncbi.nlm.nih.gov
Gonadotropin hormone-releasing hormone (GnRH) is the key regulator of the reproductive
axis. Its pulsatile secretion determines the pattern of secretion of the gonadotropins follicle …

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

Y Jiang, RKC Yuen, X Jin, M Wang, N Chen… - The American Journal of …, 2013 - cell.com
Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet
the genetic causes remain only partially understood as a result of extensive clinical and …

GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

N Sinnott-Armstrong, S Naqvi, M Rivas, JK Pritchard - Elife, 2021 - elifesciences.org
Genome-wide association studies (GWAS) have been used to study the genetic basis of a
wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for …

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 …

Delayed puberty—phenotypic diversity, molecular genetic mechanisms, and recent discoveries

SR Howard, L Dunkel - Endocrine reviews, 2019 - academic.oup.com
This review presents a comprehensive discussion of the clinical condition of delayed
puberty, a common presentation to the pediatric endocrinologist, which may present both …

GnRH and GnRH receptors in metazoa: a historical, comparative, and evolutive perspective

O Kah, C Lethimonier, G Somoza, LG Guilgur… - General and …, 2007 - Elsevier
About 50years after Harris's first demonstration of its existence, GnRH has strongly
stimulated the interest and imagination of scientists, resulting in a high number of studies in …

The miR-200 family controls β-tubulin III expression and is associated with paclitaxel-based treatment response and progression-free survival in ovarian cancer …

S Leskelä, LJ Leandro-García… - Endocrine-related …, 2011 - erc.bioscientifica.com
p53 Reactivation and induction of massive apoptosis (PRIMA-1) is a small-molecule
compound that reactivates mutant p53, restoring its normal tumor suppressor function …

Making senses: development of vertebrate cranial placodes

G Schlosser - International review of cell and molecular biology, 2010 - Elsevier
Cranial placodes (which include the adenohypophyseal, olfactory, lens, otic, lateral line,
profundal/trigeminal, and epibranchial placodes) give rise to many sense organs and …

Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory

AL Mitchell, A Dwyer, N Pitteloud, R Quinton - Trends in Endocrinology & …, 2011 - cell.com
Idiopathic hypogonadotropic hypogonadism (IHH) is defined by absent or incomplete
puberty and characterised biochemically by low levels of sex steroids, with low or …