CCDC141 mutation identified in anosmic hypogonadotropic hypogonadism (Kallmann syndrome) alters GnRH neuronal migration

BI Hutchins, LD Kotan, C Taylor-Burds, Y Ozkan… - …, 2016 - academic.oup.com
The first mutation in a gene associated with a neuronal migration disorder was identified in
patients with Kallmann Syndrome, characterized by hypogonadotropic hypogonadism and …

Clinical manifestations of impaired GnRH neuron development and function

HG Kim, B Bhagavath, LC Layman - Neurosignals, 2008 - karger.com
Gonadotropin-releasing hormone (GnRH) and olfactory neurons migrate together in
embryologic development, and disruption of this process causes idiopathic …

Nasal placode development, GnRH neuronal migration and Kallmann syndrome

HJ Cho, Y Shan, NC Whittington… - Frontiers in Cell and …, 2019 - frontiersin.org
The development of Gonadotropin releasing hormone-1 (GnRH) neurons is important for a
functional reproduction system in vertebrates. Disruption of GnRH results in hypogonadism …

The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs

EZM Taroc, A Prasad, JM Lin, PE Forni - Biology open, 2017 - journals.biologists.com
ABSTRACT Gonadotropin-releasing hormone-1 (GnRH-1) neurons (GnRH-1 ns) migrate
from the developing olfactory pit into the hypothalamus during embryonic development …

Clinical genetic testing for Kallmann syndrome

LC Layman - The Journal of Clinical Endocrinology & …, 2013 - academic.oup.com
During the past 20 years, remarkable advances have been made regarding the molecular
basis of many disorders affecting reproduction. This is particularly true for patients who …

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

I Turan, BI Hutchins, B Hacihamdioglu… - The Journal of …, 2017 - academic.oup.com
Context: Gonadotropin-releasing hormone neurons originate outside the central nervous
system in the olfactory placode and migrate into the central nervous system, becoming …

Kallmann's syndrome, a neuronal migration defect

A Cariboni, R Maggi - Cellular and Molecular Life Sciences CMLS, 2006 - Springer
Infertility and inability to smell are the phenotypical features of Kallmann's syndrome (KS), a
genetic disease which affects 1 in 10,000 males and 1 in 50,000 females, the majority of the …

Kallmann syndrome: towards molecular pathogenesis

JP Hardelin - Molecular and cellular endocrinology, 2001 - Elsevier
Gonadotropin Releasing Hormone (GnRH) is a key regulator of reproduction and sexual
behaviour. During the last decade, embryological studies have clarified the question of the …

Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of …

A Cariboni, K Davidson, S Rakic… - Human molecular …, 2011 - academic.oup.com
Kallmann syndrome (KS) is a genetic disease characterized by hypogonadotropic
hypogonadism and impaired sense of smell. The genetic causes underlying this syndrome …

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 …