Genetics of primary ovarian insufficiency

R Rossetti, I Ferrari, M Bonomi, L Persani - Clinical genetics, 2017 - Wiley Online Library
Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the
age of 40 and account for one major cause of female infertility. POI relevance is continuously …

[HTML][HTML] Genes involved in human premature ovarian failure

L Persani, R Rossetti… - Journal of molecular …, 2010 - endocrinology-journals.org
Premature ovarian failure (POF) is an ovarian defect characterized by the premature
depletion of ovarian follicles before the age of 40 years, representing one major cause of …

The transcription factor encyclopedia

D Yusuf, SL Butland, MI Swanson, E Bolotin, A Ticoll… - Genome biology, 2012 - Springer
Here we present the Transcription Factor Encyclopedia (TFe), a new web-based
compendium of mini review articles on transcription factors (TFs) that is founded on the …

FOXL2 mutations and genomic rearrangements in BPES

D Beysen, A De Paepe, E De Baere - Human mutation, 2009 - Wiley Online Library
The FOXL2 gene is one of 10 forkhead genes, the mutations of which lead to human
developmental disorders, often with ocular manifestations. Mutations in FOXL2 are known to …

FoxL2 and Smad3 coordinately regulate follistatin gene transcription

AL Blount, K Schmidt, NJ Justice, WW Vale… - Journal of Biological …, 2009 - jbc.org
Follistatin is a transcriptional target and a modulator of activin action. Through an
autocrine/paracrine loop, activin controls follistatin levels and thus regulates its own …

The genetic make‐up of ovarian development and function: the focus on the transcription factor FOXL2

M Elzaiat, AL Todeschini, S Caburet… - Clinical genetics, 2017 - Wiley Online Library
In a 46 XY individual, the presence of the Y chromosome harboring the testis‐determining
factor (SRY) triggers testis determination and differentiation. In a 46 XX individual, the …

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation

D Beysen, L Moumne, R Veitia, H Peters… - Human molecular …, 2008 - academic.oup.com
Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome
(BPES), characterized by an eyelid malformation associated with premature ovarian failure …

Functional Exploration of the Adult Ovarian Granulosa Cell Tumor-Associated Somatic FOXL2 Mutation p.Cys134Trp (c.402C>G)

BA Benayoun, S Caburet, A Dipietromaria, A Georges… - PloS one, 2010 - journals.plos.org
Background The somatic mutation in the FOXL2 gene c. 402C> G (p. Cys134Trp) has
recently been identified in the vast majority of adult ovarian granulosa cell tumors (OGCTs) …

Reading and learning from screens versus print: a study in changing habits: Part 2–comparing different text structures on paper and on screen

J Stoop, P Kreutzer, J G. Kircz - New Library World, 2013 - emerald.com
Purpose–The aim of this paper is to research the difference in reading and learning from
print versus electronic media in a professional and educational setting. To what extent does …

FOXF2 is required for cochlear development in humans and mice

G Bademci, C Abad, A Incesulu, F Elian… - Human molecular …, 2019 - academic.oup.com
Molecular mechanisms governing the development of the human cochlea remain largely
unknown. Through genome sequencing, we identified a homozygous FOXF2 variant c …