Frank Tüttelmann

This study creates a single-nucleus multiomic and spatial atlas of human spermatogenesis, linking gene regulatory networks to infertility-associated genetic variation and disease perturbations.

This study identifies genes under relaxed purifying selection in gorillas linked to male reproductive function, showing their association with human male infertility.

The paper shows SMG6 and PIWIL1 work together in the chromatoid body to regulate mRNAs via piRNA and NMD pathways, with SMG6's endonuclease activity aiding piRNA-guided degradation.

This study investigates whether HSP90AA1 variants cause autosomal dominant male infertility in humans and finds that while some variants are associated with infertility, their pathogenicity remains uncertain.

This study identifies biallelic germline variants in MCM8 and MCM9 as linked to polyposis, gastric cancer, early-onset colorectal cancer, and hypogonadism, with MCM9 variants showing stronger associations.

This study integrates proteomic data from 12 vertebrate species to identify a core sperm proteome, revealing conserved molecular pathways and validating novel proteins critical for fertility.

This study identifies AXDND1's role in balancing spermatogonial commitment and sperm tail formation in mice and humans, showing its necessity for fertility.

The paper identifies genotype-specific meiotic impairments in infertile men with loss-of-function variants in M1AP or ZZS genes, showing different recombination failures and reproductive outcomes.

This study investigates the role of Cylicins in spermiogenesis and male fertility using gene-editing in mice and exome sequencing in humans, finding that Cylicin deficiency causes infertility and structural sperm abnormalities.

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

This study identifies genetic subforms of non-obstructive azoospermia using exome sequencing and single-cell RNA sequencing, revealing molecular groups of genes involved in spermatogenesis.

The paper analyzes transcriptomes of human testis with different germ cell arrest stages to identify gene and transcript dynamics during spermatogenesis.

The paper identifies a conserved genetic program in male germ cells across species, revealing 161 new spermatogenesis genes and three potential causes of human infertility.

The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.

The paper identifies EGR4-dependent UTF1 downregulation as a factor in reduced reserve spermatogonial stem cells in infertile men, linked to altered chromatin structure.

This paper systematically reviews and validates monogenic causes of human male infertility, identifying 120 genes linked to 104 infertility phenotypes and assessing their clinical validity.

This study shows TRIM71 is essential for germ cell development in mice and links TRIM71 variants to human male infertility.

The paper identifies biallelic M1AP mutations as a cause of meiotic arrest and male infertility through whole exome sequencing and cohort screening.

The Male Fertility Gene Atlas aggregates and integrates OMICs data from publications on male infertility to enable targeted search and meta-analysis of genetic and epigenetic factors.

This study identifies SYCP2 translocation and frameshift variants as causes of male infertility through genetic analysis and functional modeling in yeast.