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Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.
TLDR
This study presents a consanguineous family with three affected brothers, in whom a homozygous mutation in the spermatogenesis-specific gene SPATA16 is identified, the first example of a nonsyndromic male infertility condition in humans caused by an autosomal gene defect. Expand
Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
TLDR
These results provide evidence for the involvement of an imprinted gene in the control of adult behaviour in Mest-deficient females, and show abnormal maternal behaviour and impaired placentophagia, a distinctive mammalian behaviour. Expand
Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization
TLDR
Peg1 (paternally expressed gene 1) or Mest, the first imprinted gene found on the mouse chromosome 6, may contribute to the lethality of parthenogenones and of embryos with a maternal duplication for the proximal chromosome 6. Expand
Do morphological anomalies reflect chromosomal aneuploidies?: case report.
TLDR
The analysis shows that in patients affected with either globozoospermia, shortened flagella syndrome or a condition of abnormal acrosomal spermatozoa, no association exists between chromosomal status and phenotype, and since these patients display normal haploid, sex chromosome and aneuploidy status, ICSI can be conceivably offered as a treatment for their infertility. Expand
The Pluripotency-Associated Gene Dppa4 Is Dispensable for Embryonic Stem Cell Identity and Germ Cell Development but Essential for Embryogenesis
TLDR
It is found that Dppa4 is completely dispensable for ES cell identity and germ cell development, and loss of Dppa 4 in mice results in late embryonic/perinatal death and striking skeletal defects with partial penetrance. Expand
Mice lacking the MHC class II-associated invariant chain
TLDR
A line of mice devoid of the invariant chain is generated by introducing a drastic mutation into the li gene, and cells from mutant animals show aberrant transport of MHC class II molecules, resulting in reduced levels of class II complexes at the surface. Expand
Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine
TLDR
The complete differentiation of human induced pluripotent stem cells into definitive erythrocytes capable of maturation up to enucleated red blood cells containing fetal hemoglobin in a functional tetrameric form is reported for the first time. Expand
TRIM28 repression of retrotransposon-based enhancers is necessary to preserve transcriptional dynamics in embryonic stem cells.
TLDR
It is revealed that an essential impact of this process is the protection of cellular gene expression in early embryos from perturbation by cis-acting activators contained within these retroelements. Expand
Tex19, a Mammalian‐Specific Protein with a Restricted Expression in Pluripotent Stem Cells and Germ Line
TLDR
Results suggest that Tex19.1, as well as human TEX19, could be a new factor involved in the maintenance of self‐renewal or pluripotency of stem cells. Expand
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.
TLDR
It is demonstrated that patients with globozoospermia have a homozygous deletion of DPY19L2, thus indicating that DPY 19L2 is necessary in men for sperm head elongation and acrosome formation and assigns a poor prognosis for the success of in vitro fertilization. Expand
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