Search Results - "Choate, A"

Identification of regulatory elements from nascent transcription using dREG by Wang, Zhong, Chu, Tinyi, Choate, Lauren A, Danko, Charles G

“…Our genomes encode a wealth of transcription initiation regions (TIRs) that can be identified by their distinctive patterns of actively elongating RNA…”
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Second-Hit Somatic Mutations in Mevalonate Pathway Genes Underlie Porokeratosis by Atzmony, Lihi, Choate, Keith A.

“…Familial and sporadic porokeratosis are associated with germline heterozygous mutations in mevalonate pathway genes. Kubo et al. show that each skin lesion of…”
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Associations between ichthyosis and mood disorders: A case-control study in the All of Us Research Program by Chen, Gloria, Goldust, Mohamad, Choate, Keith A., Cohen, Jeffrey M.

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GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation by Lim, Young H., Bacchiocchi, Antonella, Qiu, Jingyao, Straub, Robert, Bruckner, Anna, Bercovitch, Lionel, Narayan, Deepak, McNiff, Jennifer, Ko, Christine, Robinson-Bostom, Leslie, Antaya, Richard, Halaban, Ruth, Choate, Keith A.

“…Vascular tumors are among the most common neoplasms in infants and children; 5%–10% of newborns present with or develop lesions within the first 3 months of…”
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Topical cholesterol/lovastatin for the treatment of porokeratosis: A pathogenesis-directed therapy by Atzmony, Lihi, Lim, Young H., Hamilton, Claire, Leventhal, Jonathan S., Wagner, Annette, Paller, Amy S., Choate, Keith A.

“…Porokeratosis is associated with mevalonate pathway gene mutations. Therapeutic options are few and often limited in efficacy. We hypothesized that topical…”
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Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child by Lekwuttikarn, Ramrada, Lim, Young H, Admani, Shehla, Choate, Keith A, Teng, Joyce M C

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Prediction of histone post-translational modification patterns based on nascent transcription data by Wang, Zhong, Chivu, Alexandra G., Choate, Lauren A., Rice, Edward J., Miller, Donald C., Chu, Tinyi, Chou, Shao-Pei, Kingsley, Nicole B., Petersen, Jessica L., Finno, Carrie J., Bellone, Rebecca R., Antczak, Douglas F., Lis, John T., Danko, Charles G.

“…The role of histone modifications in transcription remains incompletely understood. Here, we examine the relationship between histone modifications and…”
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Association of Somatic ATP2A2 Damaging Variants With Grover Disease by Seli, Devin, Ellis, Katharine T, Goldust, Mohamad, Shah, Khadim, Hu, Ronghua, Zhou, Jing, McNiff, Jennifer M, Choate, Keith A

“…Grover disease (GD), a truncal eruption that typically occurs in older individuals, is exacerbated by sweating, irradiation, cancers, medications, kidney…”
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CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris by Craiglow, Brittany G., Boyden, Lynn M., Hu, Ronghua, Virtanen, Marie, Su, John, Rodriguez, Gabriela, McCarthy, Catherine, Luna, Paula, Larralde, Margarita, Humphrey, Stephen, Holland, Kristen E., Hogeling, Marcia, Hidalgo-Matlock, Benjamin, Ferrari, Bruno, Fernandez-Faith, Esteban, Drolet, Beth, Cordoro, Kelly M., Bowcock, Anne M., Antaya, Richard J., Ashack, Kurt, Ashack, Richard J., Lifton, Richard P., Milstone, Leonard M., Paller, Amy S., Choate, Keith A.

“…Heterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis…”
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Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis by Atzmony, Lihi, Khan, Habib M, Lim, Young H, Paller, Amy S, Levinsohn, Jonathan L, Holland, Kristen E, Mirza, Fatima Nadeem, Yin, Emily, Ko, Christine J, Leventhal, Jonathan S, Choate, Keith A

“…Linear porokeratosis features linear and whorled configurations of keratotic papules and plaques, with coronoid lamellae present on histologic examination…”
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Rapid extraction-free detection of the R132H isocitrate dehydrogenase mutation in glioma using colorimetric peptide nucleic acid-loop mediated isothermal amplification (CPNA-LAMP) by Choate, Kristian A, Raack, Edward J, Line, Veronica F, Jennings, Matthew J, Belton, Robert J, Winn, Robert J, Mann, Paul B

“…The R132H isocitrate dehydrogenase one ( IDH1 ) mutation is a prognostic biomarker present in a subset of gliomas and is associated with heightened survival…”
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Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia by Boyden, Lynn M., Atzmony, Lihi, Hamilton, Claire, Zhou, Jing, Lim, Young H., Hu, Ronghua, Pappas, John, Rabin, Rachel, Ekstien, Joseph, Hirsch, Yoel, Prendiville, Julie, Lifton, Richard P., Ferguson, Shawn, Choate, Keith A.

“…We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss. Each have bi-allelic…”
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Multiple stages of evolutionary change in anthrax toxin receptor expression in humans by Choate, Lauren A., Barshad, Gilad, McMahon, Pierce W., Said, Iskander, Rice, Edward J., Munn, Paul R., Lewis, James J., Danko, Charles G.

“…The advent of animal husbandry and hunting increased human exposure to zoonotic pathogens. To understand how a zoonotic disease may have influenced human…”
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Somatic Mutations in NEK9 Cause Nevus Comedonicus by Levinsohn, Jonathan L., Sugarman, Jeffrey L., McNiff, Jennifer M., Antaya, Richard J., Choate, Keith A.

“…Acne vulgaris (AV) affects most adolescents, and of those affected, moderate to severe disease occurs in 20%. Comedones, follicular plugs consisting of…”
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Genetic dissection of the RNA polymerase II transcription cycle by Chou, Shao-Pei, Alexander, Adriana K, Rice, Edward J, Choate, Lauren A, Danko, Charles G

“…How DNA sequence affects the dynamics and position of RNA Polymerase II (Pol II) during transcription remains poorly understood. Here, we used naturally…”
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More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations by Lilly, Evelyn, Bunick, Christopher G., Maley, Alexander M., Zhang, Shali, Spraker, Mary K., Theos, Amy J., Vivar, Karina L., Seminario-Vidal, Lucia, Bennett, Adam E., Sidbury, Robert, Ogawa, Yasushi, Akiyama, Masashi, Binder, Barbara, Hadj-Rabia, Smail, Morotti, Raffaella A., Glusac, Earl J., Choate, Keith A., Richard, Gabriele, Milstone, Leonard M.

“…Infant death in keratitis-ichthyosis-deafness (KID) syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately…”
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Somatic p.T771R KDR (VEGFR2) Mutation Arising in a Sporadic Angioma During Ramucirumab Therapy by Lim, Young H, Odell, Ian D, Ko, Christine J, Choate, Keith A

“…Inhibition of angiogenesis is an effective anticancer strategy because neoplasms require a rich blood supply. Ramucirumab, approved by the US Food and Drug…”
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Replicating an effective VA program to train and support family caregivers: a hybrid type III effectiveness-implementation design by Boucher, N A, Zullig, L L, Shepherd-Banigan, M, Decosimo, K P, Dadolf, J, Choate, A, Mahanna, E P, Sperber, N R, Wang, V, Allen, K A, Hastings, S N, Van Houtven, C H

“…Caring for a growing aging population using existing long-term care resources while simultaneously supporting and educating family caregivers, is a public…”
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Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia by Boyden, Lynn M., Craiglow, Brittany G., Zhou, Jing, Hu, Ronghua, Loring, Erin C., Morel, Kimberly D., Lauren, Christine T., Lifton, Richard P., Bilguvar, Kaya, Paller, Amy S., Choate, Keith A.

“…Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function…”
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Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines by Mauldin, Elizabeth A., Crumrine, Debra, Casal, Margret L., Jeong, Sekyoo, Opálka, Lukáš, Vavrova, Katerina, Uchida, Yoshikazu, Park, Kyungho, Craiglow, Brittany, Choate, Keith A., Shin, Kyong-Oh, Lee, Yong-Moon, Grove, Gary L., Wakefield, Joan S., Khnykin, Denis, Elias, Peter M.

“…Mutations in several lipid synthetic enzymes that block fatty acid and ceramide production produce autosomal recessive congenital ichthyoses (ARCIs) and…”
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