A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.

SECISBP2 is an essential factor in selenoprotein synthesis, and its mutations result in a multiorgan syndrome, including abnormal thyroid hormone metabolism. A 10-year-old obese Turkish boy born to consanguineous parents presented with high thyroxine, low triiodothyronine, high reverse triiodothyronine, and normal or slightly elevated thyrotropin. He also had attention-deficit disorder and muscle weakness but no delay in growth or bone age.

Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.

An individual with familial dysalbuminemic hyperthyroxinemia (FDH) due to a homozygous mutation (c.653G>A, p.R218H) in the human serum albumin (HSA) gene is reported.

Evaluation and Treatment of Hirsutism in Premenopausal Women.

Guideline Title: Evaluation and Treatment of Hirsutism in Premenopausal Women

Developer: Endocrine Society, Androgen Excess and Polycystic Ovary Syndrome Society, European Society of Endocrinology

Release Date: March 2018

Prior Version: February 5, 2008

Funding Source: Endocrine Society

Target Population: Premenopausal women with excess hair growth

Major Recommendations: DIAGNOSIS: Obtain a random serum total testosterone measurement to assess for androgen excess in all women with an abnormal hirsutism score (weak recommendation, low-quality evidence). Obtain an early-morning 17-hydroxyprogesterone measurement in all women with elevated testosterone and in women with hirsutism who are at high risk of congenital adrenal hyperplasia (weak recommendation; low-quality evidence). Do not measure androgen levels in women with normal menses and a normal hirsutism score (weak recommendation; low-quality evidence).

Polluted Pathways: Mechanisms of Metabolic Disruption by Endocrine Disrupting Chemicals.

Purpose Of Review: Environmental toxicants are increasingly implicated in the global decline in metabolic health. Focusing on diabetes, herein, the molecular and cellular mechanisms by which metabolism disrupting chemicals (MDCs) impair energy homeostasis are discussed.

Recent Findings: Emerging data implicate MDC perturbations in a variety of pathways as contributors to metabolic disease pathogenesis, with effects in diverse tissues regulating fuel utilization.

Tril targets Smad7 for degradation to allow hematopoietic specification in Xenopus embryos.

In Xenopus laevis, bone morphogenetic proteins (Bmps) induce expression of the transcription factor Gata2 during gastrulation, and Gata2 is required in both ectodermal and mesodermal cells to enable mesoderm to commit to a hematopoietic fate. Here, we identify tril as a Gata2 target gene that is required in both ectoderm and mesoderm for primitive hematopoiesis to occur. Tril is a transmembrane protein that functions as a co-receptor for Toll-like receptors to mediate innate immune responses in the adult brain, but developmental roles for this molecule have not been identified.

GATA2 regulates Wnt signaling to promote primitive red blood cell fate.

Primitive erythropoiesis is regulated in a non cell-autonomous fashion across evolution from frogs to mammals. In Xenopus laevis, signals from the overlying ectoderm are required to induce the mesoderm to adopt an erythroid fate. Previous studies in our lab identified the transcription factor GATA2 as a key regulator of this ectodermal signal.

Friend of GATA (FOG) interacts with the nucleosome remodeling and deacetylase complex (NuRD) to support primitive erythropoiesis in Xenopus laevis.

Friend of GATA (FOG) plays many diverse roles in adult and embryonic hematopoiesis, however the mechanisms by which it functions and the roles of potential interaction partners are not completely understood. Previous work has shown that overexpression of FOG in Xenopus laevis causes loss of blood suggesting that in contrast to its role in mammals, FOG might normally function to repress erythropoiesis in this species. Using loss-of-function analysis, we demonstrate that FOG is essential to support primitive red blood cell (RBC) development in Xenopus.

Manipulation of gene function in Xenopus laevis.

Xenopus laevis embryos are particularly well suited to address questions requiring either knockdown or overexpression of genes in a tissue-specific fashion during vertebrate embryonic development. These manipulations are achieved by targeted injection of either antisense morpholino oligonucleotides or synthetic mRNAs, respectively, into the early embryo. Herein we offer detailed protocols describing how to design and perform these experiments successfully, as well as a brief discussion of considerations for performing a microarray analysis in this organism.

Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects.

Mutations in the Notch1 receptor and delta-like 3 (Dll3) ligand cause global disruptions in axial segmental patterning. Genetic interactions between members of the notch pathway have previously been shown to cause patterning defects not observed in single gene disruptions. We examined Dll3-Notch1 compound mouse mutants to screen for potential gene interactions.

Dll3 pudgy mutation differentially disrupts dynamic expression of somite genes.

Mutations in the notch ligand delta-like 3 have been identified in both the pudgy mouse (Dll3(pu); Kusumi et al.: Nat Genet 19:274-278, 1998) and the human disorder spondylocostal dysostosis (SCD; Bulman et al.: Nat Genet 24:438-441, 2000), and a targeted mutation has been generated (Dll3(neo); Dunwoodie et al.