DELETION OF EXON 20 OF THE FAMILIAL DYSAUTONOMIA GENE IKBKAP IN MICE CAUSES DEVELOPMENTAL DELAY, CARDIOVASCULAR DEFECTS, AND EARLY EMBRYONIC LETHALITY.

Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.

Familial Dysautonomia (FD) is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population, and leads to death before the age of 40.The disease is characterized by abnormal development and progressive degeneration of the sensory and autonomic nervous system.A single base pair substitution in intron 20 of the I

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Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?

Pseudo-anodontia consists sporn mesh no pull dog harness in the clinical, not radiographic, absence of teeth, due to failure in their eruption.It has been reported as part of an extremely rare syndrome, named GAPO syndrome.Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare condition, characterized by resistance to the parathyroid hormone (PTH),

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Prenatal stress down-regulates Reelin expression by methylation of its promoter and induces adult behavioral impairments in rats.

Prenatal stress causes predisposition to cognitive and emotional disturbances and is a risk factor towards the development of neuropsychiatric conditions like depression, bipolar disorders and schizophrenia.The extracellular protein Reelin, expressed by Cajal-Retzius cells during cortical development, plays critical roles on cortical lamination and

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