Beatrice Conne - Publications

Deciphering the origins and fates of steroidogenic lineages in the mouse testis.

Journal: Cell reports

Published: July 28, 2020

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.

Journal: American journal of human genetics

Published: October 05, 2018

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.

Journal: EMBO molecular medicine

Published: April 18, 2018

Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility.

Journal: Molecular and cellular endocrinology

Published: October 12, 2017

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

Journal: Nature communications

Published: June 01, 2017

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: September 24, 2015

The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype.

Journal: BMC genomics

Published: June 19, 2015

Research resource: the dynamic transcriptional profile of sertoli cells during the progression of spermatogenesis.

Journal: Molecular endocrinology (Baltimore, Md.)

Published: February 25, 2015

An AUG codon conserved for protein function rather than translational initiation: the story of the protein sElk1.

Journal: PloS one

Published: April 08, 2014

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

Journal: PLoS genetics

Published: November 08, 2013

An essential role for insulin and IGF1 receptors in regulating sertoli cell proliferation, testis size, and FSH action in mice.

Journal: Molecular endocrinology (Baltimore, Md.)

Published: March 23, 2013

Insulin and IGF1 receptors are essential for XX and XY gonadal differentiation and adrenal development in mice.

Journal: PLoS genetics

Published: July 02, 2012