Publications by authors named "S Seminara"
Expanding the Spectrum of Endocrine Abnormalities Associated with SOX11-related Disorders.
J Clin Endocrinol Metab
September 2024
Context: SOX11 variants cause Coffin-Siris Syndrome (CSS), characterized by developmental delay, hypogonadotropic hypogonadism (HH), skeletal and facial defects.
Objective: To examine the contribution of SOX11 variants to the pathogenesis of Idiopathic Hypogonadotropic Hypogonadism (IHH), a disorder caused by hypothalamic GnRH deficiency.
Setting: The Reproductive Endocrine Unit and the Pediatric Endocrinology Division, Massachusetts General Hospital.
Article Synopsis
- * Two of these genes, TACR3 and MKRN3, are linked to severe disorders related to puberty, suggesting a connection might exist between normal and extreme cases of pubertal timing disorders.
- * However, research on individuals with idiopathic hypogonadotropic hypogonadism (IHH) showed that while TACR3 had significant genetic links, the other five genes did not, challenging the idea of a continuous genetic risk for pubertal issues
Context: Activation of fibroblast growth factor receptor 1 (FGFR1) signaling improves the metabolic health of animals and humans, while inactivation leads to diabetes in mice. Direct human genetic evidence for the role of FGFR1 signaling in human metabolic health has not been fully established.
Objective: We hypothesized that individuals with naturally occurring variants ("experiments of nature") will display glucose dysregulation.
Article Synopsis
- Lemon trees are really affected by spider mites, which are tiny pests that can harm them.
- Scientists studied a special group of lemon trees to find what makes some of them resist these pests better than others.
- They discovered a genetic marker linked to this resistance, which could help create stronger lemon trees in the future that are better at fighting off spider mites while still having good fruit quality.
The lectin pathway (LP) of complement mediates inflammatory processes linked to tissue damage and loss of function following traumatic brain injury (TBI). LP activation triggers a cascade of proteolytic events initiated by LP specific enzymes called MASPs (for Mannan-binding lectin Associated Serine Proteases). Elevated serum and brain levels of MASP-2, the effector enzyme of the LP, were previously reported to be associated with the severity of tissue injury and poor outcomes in patients with TBI.
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