Premature ovarian insufficiency: past, present, and future
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 …
40 years, a condition that affects approximately 1% of women under 40 years old and 0.1 …
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice
SY Jiao, YH Yang, SR Chen - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background
Genome-wide association studies (GWAS) have been used to study the genetic basis of a
wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for …
wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for …
Meiosis interrupted: the genetics of female infertility via meiotic failure
Idiopathic or “unexplained” infertility represents as many as 30% of infertility cases
worldwide. Conception, implantation, and term delivery of developmentally healthy infants …
worldwide. Conception, implantation, and term delivery of developmentally healthy infants …
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual …
A Capalbo, M Poli, A Riera-Escamilla… - Human reproduction …, 2021 - academic.oup.com
BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure
Male infertility impacts millions of couples yet, the etiology of primary infertility remains
largely unknown. A critical element of successful spermatogenesis is maintenance of …
largely unknown. A critical element of successful spermatogenesis is maintenance of …
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 …
diminished ovarian reserve are major issues facing the developed world due to the trend of …
Meiotic recombination defects and premature ovarian insufficiency
C Huang, T Guo, Y Qin - Frontiers in Cell and Developmental Biology, 2021 - frontiersin.org
Premature ovarian insufficiency (POI) is the depletion of ovarian function before 40 years of
age due to insufficient oocyte formation or accelerated follicle atresia. Approximately 1–5 …
age due to insufficient oocyte formation or accelerated follicle atresia. Approximately 1–5 …
Pathogenic variants of meiotic double strand break (DSB) formation genes PRDM9 and ANKRD31 in premature ovarian insufficiency
Y Wang, T Guo, H Ke, Q Zhang, S Li, W Luo… - Genetics in Medicine, 2021 - nature.com
Purpose The etiology of premature ovarian insufficiency (POI) is heterogeneous, and
genetic factors account for 20–25% of the patients. The primordial follicle pool is determined …
genetic factors account for 20–25% of the patients. The primordial follicle pool is determined …
Reproductive outcomes in individuals with chromosomal reciprocal translocations
A Verdoni, J Hu, U Surti, M Babcock, E Sheehan… - Genetics in …, 2021 - nature.com
Purpose Patients with reciprocal balanced translocations (RBT) have a risk for recurrent
pregnancy losses (RPL), affected child, and infertility. Currently, genetic counseling is based …
pregnancy losses (RPL), affected child, and infertility. Currently, genetic counseling is based …