Search Results - "KEMPPAINEN, Jon"

miRNA Biomarkers in Cyst Fluid Augment the Diagnosis and Management of Pancreatic Cysts by MATTHAEI, Hanno, WYLIE, Dennis, ADAI, Alex T, HRUBAN, Ralph H, SZAFRANSKA-SCHWARZBACH, Anna E, MAITRA, Anirban, LLOYD, Maura B, DAL MOLIN, Marco, KEMPPAINEN, Jon, MAYO, Skye C, WOLFGANG, Christopher L, SCHULICK, Richard D, LANGFIELD, Laura, ANDRUSS, Bernard F

“…The diagnosis of pancreatic cystic lesions has increased dramatically. Most are benign, whereas some, such as intraductal papillary mucinous neoplasms (IPMN),…”
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A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments by Budimirovic, Dejan B, Schlageter, Annette, Filipovic-Sadic, Stela, Protic, Dragana D, Bram, Eran, Mahone, E Mark, Nicholson, Kimberly, Culp, Kristen, Javanmardi, Kamyab, Kemppainen, Jon, Hadd, Andrew, Sharp, Kevin, Adayev, Tatyana, LaFauci, Giuseppe, Dobkin, Carl, Zhou, Lili, Brown, William Ted, Berry-Kravis, Elizabeth, Kaufmann, Walter E, Latham, Gary J

“…Fragile X syndrome (FXS) is caused by silencing of the gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality…”
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Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System by Lee, Stacey, Taylor, Jennifer L., Redmond, Charles, Hadd, Andrew G., Kemppainen, Jon A., Haynes, Brian C., Shone, Scott, Bailey, Donald B., Latham, Gary J.

“…Newborn screening is designed for presymptomatic identification of serious conditions with effective early interventions. Clinical laboratories must perform…”
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P455: Long-range PCR and nanopore sequencing method resolves F8, GBA, CYP21A2, SMN1, and TNXB variants using a single streamlined workflow by Edwards, Cody, Martin, Bradley, Roberts, Monica, Kemppainen, Jon, Routsong, Ryan, Killinger, Bryan, Lara, Adrian, Fraher, Christopher, Latham, Gary, Hall, Bradley

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P620: A PCR/nanopore assay for accurate variant detection in hard-to-decipher carrier screening genes with automated analysis software by Killinger, Bryan, Edwards, Cody, Fraher, Christopher, Kemppainen, Jon, Roberts, Monica, Markulin, Theodore, Turner, Jonathan, Greenlee, Brennan, Baker, Julliette, Parker, Connor, Haynes, Brian, Hall, Bradley

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Identification of androstenedione in a river containing paper mill effluent by Jenkins, Ronald, Angus, Robert A., McNatt, Heather, Howell, W. Mike, Kemppainen, Jon A., Kirk, Marion, Wilson, Elizabeth M.

“…Effluent from a paper mill discharging into the Fenholloway River, Taylor County, Florida, USA, contains chemicals that masculinize females of the resident…”
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Distinguishing Androgen Receptor Agonists and Antagonists: Distinct Mechanisms of Activation by Medroxyprogesterone Acetate and Dihydrotestosterone by Kemppainen, Jon A, Langley, Elizabeth, Wong, Choi-iok, Bobseine, Kathy, Kelce, William R, Wilson, Elizabeth M

“…Natural and pharmacological androgen receptor (AR) ligands were tested for their ability to induce the AR NH2-terminal and carboxyl-terminal (N/C) interaction…”
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Persistent DDT metabolite p,p'-DDE is a potent androgen receptor antagonist by Kelce, William R, Stone, Christy R, Laws, Susan C, Gray, L. Earl, Kemppainen, Jon A, Wilson, Elizabeth M

“…The increase in the number of reports of abnormalities in male sex development in wildlife and humans coincided with the introduction of 'oestrogenic'…”
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FXXLF and WXXLF Sequences Mediate the NH2-terminal Interaction with the Ligand Binding Domain of the Androgen Receptor by He, Bin, Kemppainen, Jon A., Wilson, Elizabeth M.

“…The nuclear receptor superfamily members of eukaryotic transcriptional regulators contain a highly conserved activation function 2 (AF2) in the hormone binding…”
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Activation Function 2 in the Human Androgen Receptor Ligand Binding Domain Mediates Interdomain Communication with the NH2-terminal Domain by He, Bin, Kemppainen, Jon A., Voegel, Johannes J., Gronemeyer, Hinrich, Wilson, Elizabeth M.

“…Activation function 2 in the ligand binding domain of nuclear receptors forms a hydrophobic cleft that binds the L XX LL motif of p160 transcriptional…”
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FNA needle rinses preserved in Cytolyt are acceptable specimen type for mutation testing of thyroid nodules by Zhou, Haijun, MD, PhD, Mody, Dina R., MD, Smith, Debora, CT, Lloyd, Maura B., MA, Kemppainen, Jon, MA, Houghton, Jeffrey, MA, Wylie, Dennis, MA, Szafranska-Schwarzbach, Anna E., PhD, Takei, Hidehiro, MD

“…Introduction This study investigated the application of molecular testing to residual thyroid fine-needle aspiration material from needle rinses collected in…”
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Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity by Langley, Elizabeth, Kemppainen, Jon A., Wilson, Elizabeth M.

“…Structural alignment of the human androgen receptor dimer was investigated by introducing steroid binding domain mutations that cause partial or complete…”
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Evolution of the primate androgen receptor: a structural basis for disease by Choong, C S, Kemppainen, J A, Wilson, E M

“…Androgen effects mediated by the androgen receptor (AR) are essential for male reproductive development and virilization. Comparison of AR DNA coding sequence…”
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Response-Surface Modeling of the Effect of 5α-Dihydrotestosterone and Androgen Receptor Levels on the Response to the Androgen Antagonist Vinclozolin by Euling, Susan Y., Gennings, Chris, Wilson, Elizabeth M., Kemppainen, Jon A., Kelce, William R., Kimmel, Carole A.

“…Androgens secreted by the testes bind the androgen receptor in developing target tissues to induce the expression of genes required for male sexual…”
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Identification of miRNA changes in Alzheimer's disease brain and CSF yields putative biomarkers and insights into disease pathways by Cogswell, John P, Ward, James, Taylor, Ian A, Waters, Michelle, Shi, Yunling, Cannon, Brian, Kelnar, Kevin, Kemppainen, Jon, Brown, David, Chen, Caifu, Prinjha, Rab K, Richardson, Jill C, Saunders, Ann M, Roses, Allen D, Richards, Cynthia A

“…MicroRNAs have essential functional roles in brain development and neuronal specification but their roles in neurodegenerative diseases such as Alzheimer's…”
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A combination of long-range PCR and long-read sequencing resolves common, high-risk dark and camouflaged carrier screening genes by Statt, Sarah, Thibert, Julie, Kemppainen, Jon, Edwards, Cody, Chen, Liangjing, Markulin, Theodore, Wisotsky, Jacob, Haynes, Brian, Heiner, Cheryl, Harting, John, Latham, Gary

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eP371 - A combination of long-range PCR and long-read sequencing resolves common, high-risk dark and camouflaged carrier screening genes by Statt, Sarah, Thibert, Julie, Kemppainen, Jon, Edwards, Cody, Chen, Liangjing, Markulin, Theodore, Wisotsky, Jacob, Haynes, Brian, Heiner, Cheryl, Harting, John, Latham, Gary

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eP361: Democratizing carrier screening: A 34-gene panel of routine and challenging targets resolved using a single workflow by Hernandez, James, Hall, Bradley, Kemppainen, Jon, Thibert, Julie, Edwards, Cody, Chen, Liangjing, Routsong, Ryan, Fraher, Chris, Markulin, Theodore, Church, Melissa, Turner, Jonathan, Filipovic-Sadic, Stela, Wisotsky, Jacob, Janovsky, Justin, Latham, Gary, Haynes, Brian, Statt, Sarah

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Functional DNA quantification guides accurate next-generation sequencing mutation detection in formalin-fixed, paraffin-embedded tumor biopsies by Sah, Sachin, Chen, Liangjing, Houghton, Jeffrey, Kemppainen, Jon, Marko, Adam C, Zeigler, Robert, Latham, Gary J

“…The formalin-fixed, paraffin-embedded (FFPE) biopsy is a challenging sample for molecular assays such as targeted next-generation sequencing (NGS). We compared…”
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Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay by Bram, Eran, Javanmardi, Kamyab, Nicholson, Kimberly, Culp, Kristen, Thibert, Julie R., Kemppainen, Jon, Le, Vivian, Schlageter, Annette, Hadd, Andrew, Latham, Gary J.

“…Objective: Expansion of the G 4 C 2 repeat tract in the C9orf72 gene is linked to frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here,…”
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