Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders

J Martinez-Mayer, MI Perez-Millan - Frontiers in Endocrinology, 2023 - frontiersin.org
Prokineticin receptor 2 (PROKR2) encodes for a G-protein-coupled receptor that can bind
PROK1 and PROK2. Mice lacking Prokr2 have been shown to present abnormal olfactory …

The initiation and maintenance of gonadotropin-releasing hormone neuron identity in congenital hypogonadotropic hypogonadism

WCJ Chung, PS Tsai - Frontiers in Endocrinology, 2023 - frontiersin.org
Neurons that secrete gonadotropin-releasing hormone (GnRH) drive vertebrate
reproduction. Genetic lesions that disrupt these neurons in humans lead to congenital …

Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency

R Oleari, A Lettieri, S Manzini… - Disease Models & …, 2023 - journals.biologists.com
Gonadotropin-releasing hormone (GnRH) deficiency (GD) is a disorder characterized by
absent or delayed puberty, with largely unknown genetic causes. The purpose of this study …

SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability

A Lettieri, R Oleari, MH van den Munkhof… - Nature …, 2023 - nature.com
Innervation of the hypothalamic median eminence by Gonadotropin-Releasing Hormone
(GnRH) neurons is vital to ensure puberty onset and successful reproduction. However, the …

Insulin-like Growth Factor 1, Growth Hormone, and Anti-Müllerian Hormone Receptors Are Differentially Expressed during GnRH Neuron Development

AJJ Paganoni, R Cannarella, R Oleari… - International Journal of …, 2023 - mdpi.com
Gonadotropin-releasing hormone (GnRH) neurons are key neuroendocrine cells in the brain
as they control reproduction by regulating hypothalamic-pituitary-gonadal axis function. In …

FGF8–FGFR1 signaling regulates human GnRH neuron differentiation in a time-and dose-dependent manner

V Yellapragada, N Eskici, Y Wang… - Disease Models & …, 2022 - journals.biologists.com
ABSTRACT Fibroblast growth factor 8 (FGF8), acting through the fibroblast growth factor
receptor 1 (FGFR1), has an important role in the development of gonadotropin-releasing …

Diversity within olfactory sensory derivatives revealed by the contribution of Dbx1 lineages

F Causeret, M Fayon, MX Moreau, E Ne… - Journal of …, 2023 - Wiley Online Library
In vertebrates, the embryonic olfactory epithelium contains progenitors that will give rise to
distinct classes of neurons, including olfactory sensory neurons (OSNs; involved in odor …

Sex separation unveils the functional plasticity of the vomeronasal organ in rabbits

PR Villamayor, J Gullón, L Quintela… - Frontiers in Molecular …, 2022 - frontiersin.org
Chemosensory cues are vital for social and sexual behaviours and are primarily detected
and processed by the vomeronasal system (VNS), whose plastic capacity has been …

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism

Y Zouaghi, AM Choudhary, S Irshad, M Adamo… - BMC genomics, 2024 - Springer
Abstract Background/Objectives This study aims to elucidate the genetic causes of
congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder resulting in …

Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort

JN Carriço, CI Gonçalves, A Al-Naama… - Human …, 2024 - academic.oup.com
STUDY QUESTION What is the contribution of genetic defects in Portuguese patients with
congenital hypogonadotropic hypogonadism (CHH)? SUMMARY ANSWER Approximately …