Search Results - "Levine, Kara L."

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction by Shao, Qing, Lindstrom, Kristin, Shi, Ruoyang, Kelly, John, Schroeder, Audrey, Juusola, Jane, Levine, Kara L., Esseltine, Jessica L., Penuela, Silvia, Jackson, Michael F., Laird, Dale W.

“…Pannexin1 (PANX1) is probably best understood as an ATP release channel involved in paracrine signaling. Given its ubiquitous expression, PANX1 pathogenic…”
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The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies by Shen, Wei, Heeley, Jennifer M., Carlston, Colleen M., Acuna‐Hidalgo, Rocio, Nillesen, Willy M., Dent, Karin M., Douglas, Ganka V., Levine, Kara L., Bayrak‐Toydemir, Pinar, Marcelis, Carlo L., Shinawi, Marwan, Carey, John C.

“…De novo, germline variants in DNMT3A cause Tatton–Brown–Rahman syndrome (TBRS). This condition is characterized by overgrowth, distinctive facial appearance,…”
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Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability by Su, Chi-Ting, Huang, Jenq-Wen, Chiang, Chih-Kang, Lawrence, Elizabeth C, Levine, Kara L, Dabovic, Branka, Jung, Christine, Davis, Elaine C, Madan-Khetarpal, Suneeta, Urban, Zsolt

“…Mutations in the gene for the latent transforming growth factor beta binding protein 4 (LTBP4) cause autosomal recessive cutis laxa type 1C. To understand the…”
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Biomechanical Properties of the Skin in Cutis Laxa by Kozel, Beth A., Su, Chi-Ting, Danback, Joshua R., Minster, Ryan L., Madan-Khetarpal, Suneeta, McConnell, Juliann S., Mac Neal, Meghan K., Levine, Kara L., Wilson, Robert C., Sciurba, Frank C., Urban, Zsolt

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A Novel Elastin Gene Mutation in a Vietnamese Patient with Cutis Laxa by Siefring, Mark L., Lawrence, Elizabeth C., Nguyen, Tom C., Lu, Doanh, Pham, Giang, Lorenchick, Christa, Levine, Kara L., Urban, Zsolt

“…We report a 3‐year‐old girl from Vietnam with severe congenital cutis laxa; no cardiovascular, pulmonary, neurologic, or visceral involvement; and no family…”
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A Novel Elastin Gene Mutation in a Vietnamese Patient with Cutis Laxa by Siefring, Mark L., Lawrence, Elizabeth C., Nguyen, Tom C., Lu, Doanh, Pham, Giang, Lorenchick, Christa, Levine, Kara L., Urban, Zsolt

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