Work

Pd08-04 Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in X-linked Fhl1 in Brothers With Male Factor Infertility

Year: 2017

Type: article

Abstract: CONCLUSIONS: We observed statistically significant changes in the expression of key genes in the NFkB and TGFb/BMP/Hedgehog pathways as well as major dysregulation in additional genes of the Notch, Wnt, Jak/Stat, TGFb, PPAR, p53, and oxidative stress signaling pathways upon Ift140 knockdown in mouse male germ cells.The data suggests that silencing of Ift140 inhibits apoptosis, which may in turn cause spermatogenic failure.

Source: The Journal of Urology

DOI: 10.1016/j.juro.2017.02.531

Authors: Raul Clavijo, Samuel Cohen, anthony griswold, Emre Bakircioglu, Ranjith Ramasamy

Language: English

Topic: Sperm and Testicular Function

Subfield: Reproductive Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Howard Hughes Medical Institute, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Award: G4741041465