The differential roles for neurodevelopmental and neuroendocrine genes in shaping GnRH neuron physiology and deficiency

R Oleari, V Massa, A Cariboni, A Lettieri - International Journal of …, 2021 - mdpi.com
Gonadotropin releasing hormone (GnRH) neurons are hypothalamic neuroendocrine cells
that control sexual reproduction. During embryonic development, GnRH neurons migrate …

Gonadotropin-releasing hormone analogs: Mechanisms of action and clinical applications in female reproduction

HM Wu, HM Chang, PCK Leung - Frontiers in neuroendocrinology, 2021 - Elsevier
Extra-hypothalamic GnRH and extra-pituitary GnRH receptors exist in multiple human
reproductive tissues, including the ovary, endometrium and myometrium. Recently, new …

DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose

K Inoue, H Bostan, MKR Browne, OF Bevis… - Science …, 2023 - science.org
SMCHD1 mutations cause congenital arhinia (absent nose) and a muscular dystrophy
called FSHD2. In FSHD2, loss of SMCHD1 repressive activity causes expression of double …

HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring

S Xue, TTN Ly, RS Vijayakar, J Chen, J Ng… - Nature …, 2022 - nature.com
The body plan of animals is laid out by an evolutionary-conserved HOX code which is
colinearly transcribed after zygotic genome activation (ZGA). Here we report that SMCHD1 …

[HTML][HTML] Recent advances in understanding and managing Kallmann syndrome

R Quinton, R Maggi - Faculty Reviews, 2021 - ncbi.nlm.nih.gov
Many of the recent advances in our understanding of human reproductive biology and its
genetic basis have arisen directly via the genetic investigation of patients with Kallmann …

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

P Mohassel, N Chang, K Inoue, A Delaney, Y Hu… - Neurology, 2022 - AAN Enterprises
Background and Objectives Facioscapulohumeral muscular dystrophy type 2 (FSHD2) and
arhinia are 2 distinct disorders caused by pathogenic variants in the same gene: SMCHD1 …

Illuminating the terminal nerve: Uncovering the link between GnRH‐1 neuron and olfactory development

E Amato Jr, EZM Taroc, PE Forni - Journal of Comparative …, 2024 - Wiley Online Library
During embryonic development, the olfactory placode (OP) generates migratory neurons,
including olfactory pioneer neurons, cells of the terminal nerve (TN), gonadotropin‐releasing …

Arhinia and Bilateral Anophthalmia: Report of a Rare Case and Review of Literature

G Golpayegani, M Jafari, A Karimi - Acta Medica Iranica, 2021 - publish.kne-publishing.com
Arhinia is an extremely rare condition reported in less than 100 cases so far. We report a
case of arhinia with bilateral anophthalmia. In physical examination, only alar portions of the …

[PDF][PDF] In silico discovery of GPCRSs and GnRHRs as Novel SARS-CoV-2 binding receptors, the Scientific Breakthrough that could explain neuroendocrine disorders …

MR Elkazzaz, A Ahmed, IM Shamkh, YEE Abo-Amer… - 2022 - academia.edu
Background Despite the intense work of researchers since the beginning of the pandemic,
the pathogenesis of COVID-19 is not yet clearly understood. It is known that SARS-CoV-2 …