Johanna Steingröver
A5026901187- Chromosomal and Genetic Variations
- RNA Interference and Gene Delivery
- Advanced biosensing and bioanalysis techniques
- Genomics and Rare Diseases
- Renal Diseases and Glomerulopathies
- Reproductive Biology and Fertility
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Biomedical Research and Pathophysiology
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Birth, Development, and Health
- Sperm and Testicular Function
- Sexual Differentiation and Disorders
- Ion Transport and Channel Regulation
- Assisted Reproductive Technology and Twin Pregnancy
University of Münster
2024
University Hospital Münster
2024
Universität Hamburg
2022
University Medical Center Hamburg-Eppendorf
2022
Kinderkrebs-Zentrum Hamburg
2022
RELX Group (United States)
2022
piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction humans present 39 infertile men carrying biallelic variants 14 different pathway genes, including PIWIL1, GTSF1, GPAT2, MAEL, TDRD1, DDX4. In some affected men, testicular phenotypes differ from those respective knockout mice range complete loss to production a few morphologically abnormal sperm. A reduced number pachytene was detected...
<title>Abstract</title> Piwi-interacting RNAs (piRNAs) are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction humans present 39 infertile men carrying biallelic variants 14 different pathway genes, including <italic>PIWIL1</italic>, <italic>GTSF1</italic>, <italic>GPAT2, MAEL, TDRD1</italic>, <italic>DDX4</italic> as novel disease genes. The testicular phenotypes repeatedly differ from those...
Abstract Background MCM8 and MCM9 are newly proposed cancer predisposition genes, linked to polyposis early-onset cancer, in addition their association with hypogonadism. Given the uncertain range of phenotypic manifestations unclear risk estimates, this study aimed delineate molecular clinical characteristics individuals biallelic germline / variants. Methods Population allele frequencies variant carrier were calculated using data from gnomAD, a enrichment analysis was conducted across...