Genetics of female infertility in humans

B Bhagavath, LC Layman - Elsevier Inc., 2014 - books.google.com
32.4 CONCLUSION Increasingly, additional genes are being identified to cause the most
severe forms of infertility in females. These findings have improved our understanding of …

The maternal-fetal interface of successful pregnancies and impact of fetal sex using single cell sequencing

T Sun, TL Gonzalez, N Deng, R DiPentino, EL Clark… - bioRxiv, 2019 - biorxiv.org
The first trimester is a critical window of maternal-fetal communication for pregnancy.
Therefore, we characterized crosstalk in ongoing human pregnancies at 11-13 weeks …

[HTML][HTML] Selected heterozygosity at cis-regulatory sequences increases the expression homogeneity of a cell population in humans

MK Sung, J Jang, KS Lee, CM Ghim, JK Choi - Genome biology, 2016 - Springer
Background Examples of heterozygote advantage in humans are scarce and limited to
protein-coding sequences. Here, we attempt a genome-wide functional inference of …

Genotyping TAP2 variants in North American Caucasians, Brazilians, and Africans

J Tang, DO Freedman, S Allen, E Karita, R Musonda… - Genes & …, 2001 - nature.com
The protein forms of transporter associated with antigen processing, subunit 2 (TAP2), differ
either by amino acid substitutions (Thr374Ala, Ile379Val, Ile467Val, Thr565Ala, Val577Met …

[HTML][HTML] The rs1127354 polymorphism in ITPA is associated with susceptibility to infertility

F Mollaahmadi, A Moini, RS Yazdi… - Cell Journal …, 2018 - ncbi.nlm.nih.gov
Objective Infertility is a common human disorder which is defined as the failure to conceive
for a period of 12 months without contraception. Many studies have shown that the outcome …

[HTML][HTML] Allelic Imbalance in Regulation of ANRIL through Chromatin Interaction at 9p21 Endometriosis Risk Locus

H Nakaoka, A Gurumurthy, T Hayano, S Ahmadloo… - PLoS …, 2016 - journals.plos.org
Genome-wide association studies (GWASs) have discovered numerous single nucleotide
polymorphisms (SNPs) associated with human complex disorders. However, functional …

[HTML][HTML] Parental haplotype-specific single-cell transcriptomics reveal incomplete epigenetic reprogramming in human female germ cells

Á Vértesy, W Arindrarto, MS Roost, B Reinius… - Nature …, 2018 - nature.com
In contrast to mouse, human female germ cells develop asynchronously. Germ cells
transition to meiosis, erase genomic imprints, and reactivate the X chromosome. It is …

Transformation of a transposon into a derived prolactin promoter with function during human pregnancy

D Emera, GP Wagner - Proceedings of the National …, 2012 - National Acad Sciences
Transposable elements (TEs) are known to provide DNA for host regulatory functions, but
the mechanisms underlying the transformation of TEs into cis-regulatory elements are …

Transgenerational paternal transmission of acquired traits: stress-induced modification of the sperm regulatory transcriptome and offspring phenotypes

TYC Pang, AK Short, TW Bredy, AJ Hannan - Current opinion in behavioral …, 2017 - Elsevier
Highlights•Recent evidence supports the paternal transgenerational transmission of
acquired traits.•Paternal stress had impacts on offspring behaviours and neuroendocrine …

Genome-wide identification of regulatory elements in Sertoli cells

DM Maatouk, A Natarajan, Y Shibata, L Song… - …, 2017 - journals.biologists.com
A current goal of molecular biology is to identify transcriptional networks that regulate cell
differentiation. However, identifying functional gene regulatory elements has been …