The Turkish Journal of Pediatrics, 2012 Congenital adrenal hyperplasia (CAH) applies to a family of inherited disorders of steroidogenesis caused by an abnormality in one of the five enzymatic steps necessary in the conversion of cholesterol to cortisol.
Abdulmoein E Al-Agha +2 more
doaj
Genetics and biochemical variability of variants of 21 hydroxylase deficiency. [PDF]
, 1985 M.T. Gordon +3 more
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Acetylation‐Deacetylation‐Driven Natural Product Biosynthesis
ChemistryEurope, EarlyView.This review summarizes the role of acetylation‐deacetylation in natural product biosynthesis, including acetylation followed by deacetylation after several biosynthetic steps, acetylation‐mediated rearrangement, acetylation‐triggered elimination, and the acetylation cycle as a regulatory mechanism. These processes are vital for the formation of complex
Huibin Wang, Ikuro Abe
wiley +1 more source
A head start: The relationship of placental factors to craniofacial and brain development
Developmental Dynamics, EarlyView.Abstract In recent years, the importance of placental function for fetal neurodevelopment has become increasingly studied. This field, known as neuroplacentology, has greatly expanded possible etiologies of neurodevelopmental disorders by exploring the influence of placental function on brain development.
Annemarie Jenna Carver +2 more
wiley +1 more source
Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]
, 2015 Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V. +2 more
core +1 more source
Frontiers in EndocrinologyIntroductionChildren and young adults with congenital adrenal hyperplasia (CAH) are at increased risk of obesity and insulin resistance. There is evidence that children with CAH have increased visceral adiposity, which has been linked to metabolic ...
Jennifer Apsan +5 more
doaj +1 more source
The deficiency of 21-hydroxylase as a paradigm of segregation analysis [PDF]
, 1980 Norikazu Yasuda, Nobuchika Saito
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Spatiotemporal distribution of neural crest cells in the common wall lizard Podarcis muralis
Developmental Dynamics, EarlyView.Abstract Background Neural crest cells (NCCs) are migratory embryonic stem cells that give rise to a diverse set of cell types. Here we describe the dynamic distribution of NCCs in developing embryos of the common wall lizard Podarcis muralis inferred from 10 markers.
Robin Pranter, Nathalie Feiner
wiley +1 more source
Molecular genetics and epidemiology of steroid 21-hydroxylase deficiency. Origin of disease-causing mutations. [PDF]
, 2002 This thesis is aimed at understanding the relationship between the genetic defects that cause steroid 21-hydroxylase deficiency and the clinical phenotype, and the molecular mechanisms that create these mutations in the CYP21 gene, in a patient ...
Koppens, P.F.J.
core
Late onset 21-hydroxylase deficiency is a genetic variant of the classic form of congenital adrenal hyperplasia (CAH) [PDF]
, 1981 George P. Chrousos +3 more
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