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Trisomy of the short stature homeobox-containing gene (SHOX) due to duplication/deletion of the X chomosome: Clinical implications on the stature
(Karger, 2010-10)
Background: The karyotypes of 2 patients with abnormal stature and different phenotypes revealed one similar structural abnormality in the X chromosome by conventional cytogenetic studies and fluorescence in situ hybridization ...
Fibroblast deficiency of insulin-like growth factor 1 receptor type 1 (IGF1R) impairs initial steps of murine pheochromocytoma development
(Elsevier France-Editions Scientifiques Medicales Elsevier, 2019-08)
Insulin-like growth factor 1 (IGF1) has a critical role in maintaining tumor phenotype and survival of already transformed murine pheochromocytoma (pheo) cells (MPC4/30) and it is required for the initial establishment of ...
Lrig1 and lrig3 cooperate to control ret receptor signaling, sensory axonal growth and epidermal innervations
(Company of Biologists, 2021-08)
Negative feedback loops represent a regulatory mechanism that guarantees that signaling thresholds are compatible with a physiological response. Previously, we established that Lrig1 acts through this mechanism to inhibit ...
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein
(Nature Publishing Group, 2008-11)
In humans, SHH haploinsufficiency results in holoprosencephaly (HPE), a defect in anterior midline formation. Despite the importance of maintaining SHH transcript levels above a critical threshold, we know little about the ...
Trophoblast VIP deficiency entails immune homeostasis loss and adverse pregnancy outcome in mice
(Federation of American Societies for Experimental Biology, 2018-09)
Immune homeostasis maintenance throughout pregnancy is critical for normal fetal development. Trophoblast cells differentiate into an invasive phenotype and contribute to the transformation of maternal arteries and the ...
Glucose regulates steady-state levels of PDX1 via the reciprocal actions of GSK3 and AKT kinases
(American Society for Biochemistry and Molecular Biology, 2010-01)
The pancreatic beta cell is sensitive to even small changes in PDX1 protein levels; consequently, Pdx1 haploinsufficiency can inhibit beta cell growth and decrease insulin biosynthesis and gene expression, leading to ...
Functional and comparative characterization of Saccharomyces cerevisiae RVB1 and RVB2 genes with bacterial Ruv homologues
(Wiley Blackwell Publishing, Inc, 2007-06)
Expression of yeast RuvB-like gene analogues of bacterial RuvB is self-regulated, as episomal overexpression of RVB1 and RVB2 decreases the expression of their chromosomal copies by 85%. Heterozygosity for either gene ...
Progesterone receptors: a key for neuroprotection in experimental stroke
(Endocrine Society, 2012-05)
Progesterone receptors (PR) are expressed throughout the brain. However, their functional significance remains understudied. Here we report a novel role of PR as crucial mediators of neuroprotection using a model of transient ...
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency
(Ferrata Storti Foundation, 2013-06)
The gray platelet syndrome is a rare inherited bleeding disorder characterized by macrothrombocytopenia and deficiency of alpha (α)-granules in platelets. The genetic defect responsible for gray platelet syndrome was ...
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
(Springer, 2015-05)
The most common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) is a G4C2-repeat expansion in C9orf72. However, the lower limit for pathological repeats has not been established ...