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TOURAINE , Philippe

Last name: TOURAINE

First name: Philippe

2017 (v1)

Publication

Metadata-only

Contribution of LHX4 mutations to pituitary deficits in a cohort of 417 unrelated patients

Cohen, Enzo MAGHNIE, MOHAMAD Collot, Nathalie

CONTEXT: LHX4 encodes a LIM-homeodomain transcription factor that is implicated in early pituitary development. In humans, only 13 heterozygous LHX4 mutations have been associated with congenital hypopituitarism. OBJECTIVE: The aims of this study were to evaluate the prevalence of LHX4 mutations in patients with hypopituitarism, to define the...

Uploaded on: April 14, 2023
February 2018 (v1)

Journal article

Metadata-only

A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro

Bachelot, Anne Gilleron, Jérôme Meduri, Geri

Folliculogenesis requires communication between granulosa cells and oocytes, mediated by connexin-based gap junctions. Connexin 37 (Cx37)-deficient female mice are infertile. The present study assessed Cx37 deficiency in patients with primary ovarian insufficiency (POI). A candidate gene study was performed in patients and controls from the...

Uploaded on: March 26, 2023