Associated Papers
Mouse modeling of familial human SYCE1 c.197-2A>G splice site mutation leads to meiotic recombination failure and non-obstructive azoospermia.
García-Martínez OI et al.
Molecular Human Reproduction, 2025
Genetic control of meiosis surveillance mechanisms in mammals.
Huang Y et al.
Frontiers in Cell and Developmental Biology, 2023
36910159 (PubMed )
Supplement: DataSheet2.PDF
Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.
Basel-Salmon L et al.
Genetics in Medicine Open, 2023
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.
Fan S et al.
American Journal of Human Genetics, 2021
Meiosis interrupted: the genetics of female infertility via meiotic failure.
Biswas L et al.
Reproduction (cambridge, England), 2021
Meiotic chromosome synapsis depends on multivalent SYCE1-SIX6OS1 interactions that are disrupted in cases of human infertility.
Sánchez-Sáez F et al.
Science Advances, 2020
Familial primary ovarian insufficiency associated with an SYCE1 point mutation: defective meiosis elucidated in humanized mice.
Hernández-López D et al.
Molecular Human Reproduction, 2020
Mutations in Genes Coding for Synaptonemal Complex Proteins and Their Impact on Human Fertility.
Geisinger A et al.
Cytogenetic and Genome Research, 2016
Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.
de Vries L et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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