Adrenal zona fasciculata (AZF) cells express a cAMP-activated guanine nucleotide exchange protein (Epac2) that may function in ACTH-stimulated cortisol synthesis. Experiments were done to determine whether cAMP analogs that selectively activate Epacs could induce cortisol synthesis and the expression of genes coding for steroidogenic proteins in bovine AZF cells. Treatment of AZF cells with the...

BACKGROUND Azoospermia factor c (AZFc) subdeletions were reported to be significant risk factors for spermatogenesis. In this study, we assessed the occurrence of classical AZF deletions and AZFc subdeletions and their impact on male infertility in a Han-Chinese population. METHODS This study analysed a population of 699 subjects, including 451 idiopathic infertile patients with a range of fe...

Pregnancy achieved with sperm from a patient with globozoospermia is rare, even after ICSI, since the activation of the oocyte may not occur in this disorder. Therefore, activation of the oocytes by piezoelectricity or calcium ionophores has been suggested, although spontaneous activation of the oocyte after ICSI has been reported in some cases. We report a successful pregnancy in a couple in w...

BACKGROUND Most cases of Sotos syndrome are caused by intragenic NSD1 mutations or 5q35 microdeletions. It is uncertain whether allelic or genetic heterogeneity underlies the residual cases and it has been proposed that other mechanisms, such as 11p15 defects, might be responsible for Sotos cases without NSD1 mutations or 5q35 microdeletions. OBJECTIVE To develop a multiplex ligation dependen...

BACKGROUND To date, the role of male factor contributing in evaluation of spontaneous recurrent pregnancy loss (RPL) has been less investigated and there is discrepancy in the role of Y chromosome microdeltions in RPL. Therefore, the current study was designed to examine whether Y chromosome microdeletions were associated with RPL in an Iranian population. METHODS One hundred men from couples...

OBJECTIVE To report the type and frequency of chromosomal anomalies and Y-microdeletions among Hong Kong Chinese subfertile men with sperm concentrations lower than 5 million/mL. DESIGN. Retrospective study. SETTING A reproductive centre in Hong Kong. PARTICIPANTS A total of 295 Chinese subfertile men who underwent both karyotyping and Y-microdeletion studies from 2000 to 2007 were categori...

The location of a schizophrenia susceptibility locus at chromosome 22q11 has been suggested by genome-wide linkage studies. Additional support was provided by the observation of a higher-than-expected frequency of 22q11 microdeletions in patients with schizophrenia and the demonstration that approximately 20-30% of individuals with 22q11 microdeletions develop schizophrenia or schizoaffective d...

Microdeletions of the entire NF1 gene and surrounding genomic region occur in about 5% of patients with neurofibromatosis 1 (NF1). NF1 microdeletion patients usually have more cutaneous and plexiform neurofibromas and a higher risk of developing malignant peripheral nerve sheath tumors than other people with NF1. Somatic overgrowth has also been observed in NF1 microdeletion patients, an observ...