TMEM25 inhibits monomeric EGFR-mediated STAT3 activation in basal state to suppress triple-negative breast cancer progression.

Triple-negative breast cancer (TNBC) is a subtype of breast cancer with poor outcome and lacks of approved targeted therapy. Overexpression of epidermal growth factor receptor (EGFR) is found in more than 50% TNBC and is suggested as a driving force in progression of TNBC; however, targeting EGFR using antibodies to prevent its dimerization and activation shows no significant benefits for TNBC patients. Here we report that EGFR monomer may activate signal transducer activator of transcription-3 (STAT3) in the absence of transmembrane protein TMEM25, whose expression is frequently decreased in human TNBC.

β2-microglobulin functions as an endogenous NMDAR antagonist to impair synaptic function.

Down syndrome (DS) is a neurological disorder with multiple immune-related symptoms; however, crosstalk between the CNS and peripheral immune system remains unexplored. Using parabiosis and plasma infusion, we found that blood-borne factors drive synaptic deficits in DS. Proteomic analysis revealed elevation of β2-microglobulin (B2M), a major histocompatibility complex class I (MHC-I) component, in human DS plasma.

Trisomy 21-induced dysregulation of microglial homeostasis in Alzheimer's brains is mediated by USP25.

Down syndrome (DS), caused by trisomy of chromosome 21, is the most significant risk factor for early-onset Alzheimer's disease (AD); however, underlying mechanisms linking DS and AD remain unclear. Here, we show that triplication of homologous chromosome 21 genes aggravates neuroinflammation in combined murine DS-AD models. Overexpression of , a deubiquitinating enzyme encoded by chromosome 21, results in microglial activation and induces synaptic and cognitive deficits, whereas genetic ablation of reduces neuroinflammation and rescues synaptic and cognitive function in 5×FAD mice.

The deubiquitinase USP6 affects memory and synaptic plasticity through modulating NMDA receptor stability.

Ubiquitin-specific protease (USP) 6 is a hominoid deubiquitinating enzyme previously implicated in intellectual disability and autism spectrum disorder. Although these findings link USP6 to higher brain function, potential roles for USP6 in cognition have not been investigated. Here, we report that USP6 is highly expressed in induced human neurons and that neuron-specific expression of USP6 enhances learning and memory in a transgenic mouse model.

Biallelic mutations in PMFBP1 cause acephalic spermatozoa.

The majority of men with defects in spermatogenesis remain undiagnosed. Acephalic spermatozoa is one of the diseases causing primary infertility. However, the causes underlying over half of affected cases remain unclear.

A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review.

Background: Testis-expressed gene 11 (TEX11) is an X-linked gene and essential for meiotic recombination and chromosomal synapsis. TEX11 deficiency causes meiotic arrest and male infertility, and many TEX11 mutations have been found in azoospermic and infertile men.

Case Presentation: This study reported one novel TEX11 mutation (2653G → T, in exon 29, GenBank accession number, NM_031276) in two brothers with azoospermia.

ALAD genotypes and blood lead levels of neonates and children from e-waste exposure in Guiyu, China.

Extensive e-waste recycling activity in Guiyu, China, has been conducted using primitive techniques for the last 20 years, resulting in serious heavy metal environmental contamination. A polymorphic variant of the δ-aminolevulinic acid dehydratase (ALAD) gene has been found to influence lead uptake and, thus, may influence an individual's susceptibility to lead toxicity. We therefore explored whether the ALAD gene polymorphism affects blood lead levels of newborns and children in Guiyu.

Pregnancy with concomitant chorioangioma and placental mesenchymal dysplasia: a rare placental abnormality.

Background. Pregnancy with concomitant chorioangioma and placental mesenchymal dysplasia (PMD) coexisting with a normal viable fetus is very rare. The literature was reviewed to explore the incidence and genetic origin of this condition.

[Congenital adrenal hyperplasia complicated by testicular adrenal rest tumors: one-case clinical analysis].

Objective: To investigate the early diagnosis and treatment of congenital adrenal hyperplasia (CAH) complicated by testicular adrenal rest tumors (TART).

Methods: We retrospectively analyzed the clinical data of 1 case of late-onset CAH complicated by TART diagnosed and treated in Xiamen Women and Children Health Care Hospital.

Results: The patient was a 15 years old boy, short statured and dark skinned, with skin pigmentation in the gum and external genital, secondary sex characteristics of the adult and irregular tubercles palpable in the bilateral testes.

Lead affects apoptosis and related gene XIAP and Smac expression in the hippocampus of developing rats.

Lead (Pb) exposure poses devastating effects on central nervous system development of children. To replicate aspects of this neurotoxicity, we examined the effect of lead on the expression of apoptosis and of apoptosis-related genes, XIAP (X chromosome-linked inhibitor of apoptosis protein) and Smac (second mitochondrial activator of caspase), in the hippocampus of developing rats. A total of 48 rats (30-day old) were randomly divided into four groups for intragastrical perfusion of lead acetate [Pb(Ac)2]: untreated, low (2 mg/kg/d), medium (20 mg/kg/d), and high (200 mg/kg/d) dose groups.

Monitoring of lead load and its effect on neonatal behavioral neurological assessment scores in Guiyu, an electronic waste recycling town in China.

Guiyu is the major electronic waste (e-waste) recycling town in China. The primary purpose of this study was to measure the lead levels in neonates and examine the correlation between lead levels and neurobehavioral development. One hundred full-term neonates from Guiyu and fifty-two neonates from neighboring towns (control group) in the late summer of 2006 were selected for study.

Lead and cadmium synergistically enhance the expression of divalent metal transporter 1 protein in central nervous system of developing rats.

Divalent metal transporter 1 (DMT1) can transport a large range of ions, including toxic lead (Pb) and cadmium (Cd), across membranes. In this study, a total of 24 rats were divided into four groups for intragastrical perfusion treatment: control, Pb alone, Cd alone, and Pb + Cd. Pb and Cd contents in blood were detected, and the mRNA and protein levels of DMT1 were analyzed in the cerebellum, cortex, and hippocampus.

Blood lead and cadmium levels and relevant factors among children from an e-waste recycling town in China.

Background: Primitive electronic waste (e-waste) recycling is ongoing in Guiyu, and thus toxic heavy metals may keep on threatening to the health of local children. Some related factors may contribute to the elevation of blood lead levels (BLLs) or blood cadmium levels (BCLs).

Objective: To investigate the children's BLLs and BCLs in Guiyu and Chendian as compare to discuss the effects of primitive e-waste recycling activities on children's health.

[Determination of meconium lead level of newborn by graphite furnace atomic absorption spectrometry].

Unlabelled: To establish a method for the determination of lead in meconium from 144 samples of newborn through nitric acid digestion by means of graphite furnace atomic absorption spectrometry.

Methods: after being baked for at least 12 h at 60 degrees C, 0.3 g of meconium was digested by nitric acid and hydrogen peroxide in turn at 80 degrees C under water-bath condition for 1h and then metered to the whole volume of to 2 mL.

Elevated blood lead levels of children in Guiyu, an electronic waste recycling town in China.

Background: Electronic waste (e-waste) recycling has remained primitive in Guiyu, China, and thus may contribute to the elevation of blood lead levels (BLLs) in children living in the local environment.

Objectives: We compared the BLLs in children living in the e-waste recycling town of Guiyu with those living in the neighboring town of Chendian.

Methods: We observed the processing of e-waste recycling in Guiyu and studied BLLs in a cluster sample of 226 children < 6 years of age who lived in Guiyu and Chendian.

[Recombinant prokaryotic plasmid construction and high expression of FUS1 gene].

Objective: To construct the prokaryotic plasmid of FUS1 gene for efficient FUS1 expression in E.coli strain Rosetta(DE3)2plys.

Methods: The full-length FUS1 gene was amplified by PCR from the total RNA of umbilical mesenchymal stem cells and cloned into pET-32a(+) vector followed by identification with PCR and sequencing.