Barbara Lindau‐Shepard
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View article: A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots
A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots Open
Biotinidase deficiency is an autosomal recessive syndrome caused by defects in the biotinidase gene, the product of which affects biotin metabolism. Newborn screening (NBS) for biotinidase deficiency can identify affected infants prior to …
View article: Single-Molecule Analyses of Fully Functional Fluorescent Protein-Tagged Follitropin Receptor Reveal Homodimerization and Specific Heterodimerization with Lutropin Receptor1
Single-Molecule Analyses of Fully Functional Fluorescent Protein-Tagged Follitropin Receptor Reveal Homodimerization and Specific Heterodimerization with Lutropin Receptor1 Open
We have previously shown that the carboxyl terminus (cT) of human follicle-stimulating hormone (FSH, follitropin) receptor (FSHR) is clipped before insertion into the plasma membrane. Surprisingly, several different constructs of FSHR fluo…
View article: Improved Immunoassay for the Detection of Severe Combined Immunodeficiency
Improved Immunoassay for the Detection of Severe Combined Immunodeficiency Open
To the Editor:
Testing for severe combined immunodeficiency (SCID) has recently become of interest to the newborn-screening community, because the detection of this condition in early infancy is crucial for effective treatment. Several ne…
View article: A Multiplex Immunoassay Using the Guthrie Specimen to Detect T-Cell Deficiencies Including Severe Combined Immunodeficiency Disease
A Multiplex Immunoassay Using the Guthrie Specimen to Detect T-Cell Deficiencies Including Severe Combined Immunodeficiency Disease Open
BACKGROUND Severe combined immunodeficiency (SCID) fulfills many of the requirements for addition to a newborn screening panel. Two newborn screening SCID pilot studies are now underway using the T-cell receptor excision circle (TREC) assa…
View article: Newborn Screening for Cystic Fibrosis by Use of a Multiplex Immunoassay
Newborn Screening for Cystic Fibrosis by Use of a Multiplex Immunoassay Open
Background: Since its beginnings, newborn screening for cystic fibrosis (CF) using an assay for immunoreactive trypsinogen (IRT) has been plagued by a high rate of false-positive results (screen positive, diagnosis negative), despite attem…
View article: Hormone-induced Conformational Change of the Purified Soluble Hormone Binding Domain of Follitropin Receptor Complexed with Single Chain Follitropin
Hormone-induced Conformational Change of the Purified Soluble Hormone Binding Domain of Follitropin Receptor Complexed with Single Chain Follitropin Open
Human follicle-stimulating hormone receptor (hFSHR) belongs to family I of G protein-coupled receptors. FSHR extracellular domain (ECD) is predicted to have 8-9 alphabeta or leucine-rich repeat motif elements. The objective of this study w…
View article: In Vitro Hypersensitivity to Oxygen of Fanconi Anemia (FA) Cells Is Linked to Ex Vivo Evidence for Oxidative Stress in FA Homozygotes and Heterozygotes
In Vitro Hypersensitivity to Oxygen of Fanconi Anemia (FA) Cells Is Linked to Ex Vivo Evidence for Oxidative Stress in FA Homozygotes and Heterozygotes Open
Elena D'Aosta Hospital link between ROS formation, oxidative DNA damage, and chromo-Naples, Italy somal breakages in FA.Claudio Franceschi (2) Clastogenic factor (CF) was detected in plasma from FA(A)Institute of General Pathology patients…