Clinical management of congenital hypogonadotropic hypogonadism

J Young, C Xu, GE Papadakis, JS Acierno… - Endocrine …, 2019 - academic.oup.com
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …

[HTML][HTML] Neurocristopathies: New insights 150 years after the neural crest discovery

GA Vega-Lopez, S Cerrizuela, C Tribulo… - Developmental biology, 2018 - Elsevier
The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

CHARGE and Kabuki syndromes: gene-specific DNA methylation signatures identify epigenetic mechanisms linking these clinically overlapping conditions

DT Butcher, C Cytrynbaum, AL Turinsky, MT Siu… - The American Journal of …, 2017 - cell.com
Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of
neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes …

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism

MI Stamou, NA Georgopoulos - Metabolism, 2018 - Elsevier
Abstract Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a
genetically and clinically heterogeneous disorder. Mutations in many different genes are …

Role of epigenetics in cardiac development and congenital diseases

T Moore-Morris, PP van Vliet… - Physiological …, 2018 - journals.physiology.org
The heart is the first organ to be functional in the fetus. Heart formation is a complex
morphogenetic process regulated by both genetic and epigenetic mechanisms. Congenital …

Reconstruction of the global neural crest gene regulatory network in vivo

RM Williams, I Candido-Ferreira, E Repapi… - Developmental cell, 2019 - cell.com
Precise control of developmental processes is encoded in the genome in the form of gene
regulatory networks (GRNs). Such multi-factorial systems are difficult to decode in …

Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8

C Marie, A Clavairoly, M Frah… - Proceedings of the …, 2018 - National Acad Sciences
Oligodendrocyte precursor cells (OPCs) constitute the main proliferative cells in the adult
brain, and deregulation of OPC proliferation-differentiation balance results in either glioma …

GnRH, anosmia and hypogonadotropic hypogonadism–where are we?

PE Forni, S Wray - Frontiers in neuroendocrinology, 2015 - Elsevier
Gonadotropin releasing hormone (GnRH) neurons originate the nasal placode and migrate
into the brain during prenatal development. Once within the brain, these cells become …

Discovering genes essential to the hypothalamic regulation of human reproduction using a human disease model: adjusting to life in the “-omics” era

MI Stamou, KH Cox, WF Crowley Jr - Endocrine reviews, 2015 - academic.oup.com
The neuroendocrine regulation of reproduction is an intricate process requiring the exquisite
coordination of an assortment of cellular networks, all converging on the GnRH neurons …

Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome

A Cariboni, V André, S Chauvet… - The Journal of …, 2015 - Am Soc Clin Investig
Individuals with an inherited deficiency in gonadotropin-releasing hormone (GnRH) have
impaired sexual reproduction. Previous genetic linkage studies and sequencing of plausible …