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Background/Aims: The chromosome 4q27 region harboring IL2 and IL21
is an established risk locus for ulcerative colitis (UC) and
various other autoimmune diseases. Considering the strong
coincidence of primary sclerosing cholangitis (PSC) with UC and...
Background: Cholangiocytes expose a striking resistance against
bile acids: while other cell types, such as hepatocytes, are
susceptible to bile acid-induced toxicity and apoptosis already at
micromolar concentrations, cholangiocytes are continuously...
Context: Mild forms of simple virilizing congenital adrenal
hyperplasia (CAH) may be missed in newborn screening. In the
pre-newborn-screening era, missed diagnosis of simple virilizing
CAH was not infrequent in boys. Elevated adrenal androgens lead...
Background: Linear growth is the best clinical parameter for
monitoring metabolic control in classical congenital adrenal
hyperplasia (CAH). Objective: To analyze growth patterns in
children with CAH diagnosed by newborn screening and treated with
re...
Objective: Genome-wide association studies have identified robust
associations between single nucleotide polymorphisms and complex
traits. As the proportion of phenotypic variance explained is still
limited for most of the traits, larger and larger m...
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