Concepedia

A Novel SEMA3G Mutation in Two Siblings Affected by Syndromic GnRH Deficiency

Roberto Oleari, Valentina Andrè, Antonella Lettieri, Sophia Tahir, Lise Roth, Alyssa Paganoni, Ivano Eberini, Chiara Parravicini, Valeria Scagliotti, Ludovica Cotellessa,

Neuroendocrinology · 2020 · 23 citations · 51 references

DOIFull text

Open access

Abstract

In silico, in vitro, and in vivo models revealed that SEMA3G regulates GnRH neuron migration and that its mutation affecting receptor selectivity may be responsible for the HH-related defects.

References

51

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.7K citations · Full text

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An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

Ye Zhang, Kenian Chen, Steven A. Sloan et al. · Journal of Neuroscience · 2014 · 5.2K citations · Full text

The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein

Mordechai Bodner, José-Luis Castriilo, Lars E. Theill et al. · Cell · 1988 · 770 citations

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Bardet–Biedl syndrome

Elizabeth Forsythe, Philip L. Beales · European Journal of Human Genetics · 2012 · 725 citations · Full text

The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis.

Holly A. Ingraham, Deepak S. Lala, Yayoi Ikeda et al. · Genes & Development · 1994 · 607 citations · Full text

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