Premature ovarian insufficiency: past, present, and future

SJ Chon, Z Umair, MS Yoon - Frontiers in cell and developmental …, 2021 - frontiersin.org
Premature ovarian insufficiency (POI) is the loss of normal ovarian function before the age of
40 years, a condition that affects approximately 1% of women under 40 years old and 0.1 …

Genetics of ovarian insufficiency and defects of folliculogenesis

MM França, BB Mendonca - … practice & research Clinical endocrinology & …, 2022 - Elsevier
Primary ovarian insufficiency (POI) is determined by exhaustion of follicles in the ovaries,
which leads to infertility before the age of 40 years. It is characterized by a strong familial …

Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention

H Liu, X Wei, Y Sha, W Liu, H Gao, J Lin, Y Li… - Journal of ovarian …, 2020 - Springer
Background The loss of ovarian function in women, referred to as premature ovarian
insufficiency (POI), is associated with a series of concomitant diseases. POI is genetically …

The role of BMP signaling in female reproductive system development and function

E Magro-Lopez, MÁ Muñoz-Fernández - International journal of molecular …, 2021 - mdpi.com
Bone morphogenetic proteins (BMPs) are a group of multifunctional growth factors that
belong to the transforming growth factor-β (TGF-β) superfamily of proteins. Originally …

A kaleidoscopic view of ovarian genes associated with premature ovarian insufficiency and senescence

Q Yang, S Mumusoglu, Y Qin, Y Sun… - The FASEB …, 2021 - Wiley Online Library
Ovarian infertility and subfertility presenting with premature ovarian insufficiency (POI) and
diminished ovarian reserve are major issues facing the developed world due to the trend of …

Genetics of anti-Müllerian hormone and its signaling pathway

N Josso, JY Picard - Best Practice & Research Clinical Endocrinology & …, 2022 - Elsevier
Anti-Müllerian hormone (AMH) is a member of the TGF-β family produced essentially by the
supporting somatic cells of the testis. Initially known for its inhibiting role upon the …

[HTML][HTML] Sexual differentiation

R Rey, N Josso, C Racine - Endotext [internet], 2020 - ncbi.nlm.nih.gov
The chromosomal sex of the embryo is established at fertilization. However, 6 weeks elapse
in humans before the first signs of sex differentiation are noticed. Sex differentiation involves …

Brown adipose tissue-derived exosomes delay fertility decline in aging mice

H Zhang, Y Fang, Y Gao, X Zeng, Z Lu, L Liu… - Frontiers in …, 2023 - frontiersin.org
Introduction Ovarian aging has steadily grown to be a significant health issue for women as
a result of the increase in average life expectancy and the postponement of reproductive …

Causal and candidate gene variants in a large cohort of women with primary ovarian insufficiency

B Gorsi, E Hernandez, MB Moore… - The Journal of …, 2022 - academic.oup.com
Context A genetic etiology likely accounts for the majority of unexplained primary ovarian
insufficiency (POI). Objective We hypothesized that heterozygous rare variants and variants …

A novel variant in BMPR1B causes acromesomelic dysplasia grebe type in a consanguineous Moroccan family: expanding the phenotypic and mutational spectrum of …

S Lhousni, M Charif, Y Derouich, ME Errahhali… - Bone, 2023 - Elsevier
Acromesomelic dysplasia Grebe type (AMD Grebe type) is an autosomal recessive trait
characterized by short stature, shortened limbs and malformations of the hands and feet. It is …