Environmental factors in declining human fertility

NE Skakkebæk, R Lindahl-Jacobsen… - Nature Reviews …, 2022 - nature.com
A severe decline in child births has occurred over the past half century, which will lead to
considerable population declines, particularly in industrialized regions. A crucial question is …

Clinical management of congenital hypogonadotropic hypogonadism

J Young, C Xu, GE Papadakis, JS Acierno… - Endocrine …, 2019 - academic.oup.com
The initiation and maintenance of reproductive capacity in humans is dependent on pulsatile
secretion of the hypothalamic hormone GnRH. Congenital hypogonadotropic hypogonadism …

Mapping the proteo-genomic convergence of human diseases

M Pietzner, E Wheeler, J Carrasco-Zanini, A Cortes… - Science, 2021 - science.org
INTRODUCTION Proteins are essential functional units of the human body and represent
the largest class of drug targets. RATIONALE Broad-capture proteomics has the potential to …

Genetic control of RNA splicing and its distinct role in complex trait variation

T Qi, Y Wu, H Fang, F Zhang, S Liu, J Zeng, J Yang - Nature genetics, 2022 - nature.com
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …

Interpreting type 1 diabetes risk with genetics and single-cell epigenomics

J Chiou, RJ Geusz, ML Okino, JY Han, M Miller… - Nature, 2021 - nature.com
Genetic risk variants that have been identified in genome-wide association studies of
complex diseases are primarily non-coding. Translating these risk variants into mechanistic …

Genetic insights into biological mechanisms governing human ovarian ageing

KS Ruth, FR Day, J Hussain, A Martínez-Marchal… - Nature, 2021 - nature.com
Reproductive longevity is essential for fertility and influences healthy ageing in women,, but
insights into its underlying biological mechanisms and treatments to preserve it are limited …

Cancer‐associated fibroblast‐mediated cellular crosstalk supports hepatocellular carcinoma progression

M Song, J He, QZ Pan, J Yang, J Zhao, YJ Zhang… - …, 2021 - Wiley Online Library
Background and Aims Cancer‐associated fibroblasts (CAFs) are key players in multicellular,
stromal‐dependent alterations leading to HCC pathogenesis. However, the intricate …

MC3R links nutritional state to childhood growth and the timing of puberty

BYH Lam, A Williamson, S Finer, FR Day, JA Tadross… - Nature, 2021 - nature.com
The state of somatic energy stores in metazoans is communicated to the brain, which
regulates key aspects of behaviour, growth, nutrient partitioning and development. The …

Using genetics for social science

KP Harden, PD Koellinger - Nature human behaviour, 2020 - nature.com
Social science genetics is concerned with understanding whether, how and why genetic
differences between human beings are linked to differences in behaviours and …

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

E Porcu, S Rüeger, K Lepik, FA Santoni… - Nature …, 2019 - nature.com
Genome-wide association studies (GWAS) have identified thousands of variants associated
with complex traits, but their biological interpretation often remains unclear. Most of these …