14 Result(s)
within
David Johnson
Biomedicine
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Article
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis
Our previous genome-wide association study (GWAS) for sagittal nonsyndromic craniosynostosis (sNCS) provided important insights into the genetics of midline CS. In this study, we performed a GWAS for a second ...
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Article
Correction to: Anaphylactoid Reactions to Intravenous N-Acetylcysteine during Treatment for Acetaminophen Poisoning
The original article has been corrected. Table 4 in PDF version of this article has been corrected since the original publication of the article because the first column of numbers (under the heading “Female”)...
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Article
Anaphylactoid Reactions to Intravenous N-Acetylcysteine during Treatment for Acetaminophen Poisoning
Anaphylactoid reactions to intravenous (IV) N-acetylcysteine (NAC) are well-recognized adverse events during treatment for acetaminophen (APAP) poisoning. Uncertainty exists regarding their incidence, severity...
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Article
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Gilean McVean and colleagues report the results of a large-scale clinical genome sequencing project spanning a broad spectrum of disorders. They identify factors influencing successful genetic diagnosis and hi...
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Chapter
Hot-Melt Extrusion: The Process-Product-Performance Interplay
Hot-melt extrusion is commonly used to manufacture amorphous solid dispersions. This chapter focuses on the process-formulation-performance interplay of a hot-melt-extruded product within the framework of a hy...
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Article
Erratum: Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Nat. Genet. 45, 304–307 (2013); published online 27 January 2013; corrected after print 5 September 2013 In the version of this article initially published, numbering and spacing for the exon structure of TCF1...
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Article
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Andrew Wilkie and colleagues report that mutations in TCF12 cause coronal craniosynostosis. They found heterozygous mutations in 38 unrelated families.
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Article
Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis
George Mavrothalassitis, Andrew Wilkie and colleagues report the identification of mutations in ERF that cause a complex craniosynostosis disorder with multiple-suture synostosis, craniofacial dysmorphism, Chiari...
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Article
Open AccessFrank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure
Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter ...
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Article
Open AccessSequence and gene expression of chloroquine resistance transporter (pfcrt) in the association of in vitro drugs resistance of Plasmodium falciparum
Plasmodium falciparum chloroquine resistance (CQR) transporter protein (PfCRT) is known to be the important key of CQR. Recent studies have definitively demonstrated a link between mutations in the gene pfcrt and...
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Chapter
Bartonella Infections in the Immunocompromised Host
Bartonella spp. have been recently identified as emerging infectious agents. A variety of clinical manifestations have been associated with B. haselae and B. quintana, with the spectrum of illnesses still expandi...
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Article
Synthesis and Biological Evaluation of Ω-(N,N,N-Trialkylammonium)alkyl Esters and Thioesters of Carboxylic Acid Nonsteroidal Antiinflammatory Agents
A series of novel ω-(N,N,N-trialkylammonium)alkyl ester and thioester derivatives [RCOM(CH2) n NR 3 + X −, M = O or S, n = 2–6, X = I or Cl] of 11 nonsteroidal antiinflammatory c...
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Article
Preparation and characterization of antisera to the myelin-associated glycoprotein
Rabbits were immunized with the myelin-associated glycoprotein (MAG) that had been purified from isolated rat brain myelin by selective extraction with lithium diiodosacicylate (LIS) and phenol followed by pre...
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Article
Osteopetrosis associated with familial paraplegia: report of a family
A clinical analysis of three members of a family with documented osteopetrosis and familial paraplegia is presented. All patients had a long history of increased bone density and slowly progressing paraparesis...
