Search Results - "Kurek, Kyle C."

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome by Kurek, Kyle C., Luks, Valerie L., Ayturk, Ugur M., Alomari, Ahmad I., Fishman, Steven J., Spencer, Samantha A., Mulliken, John B., Bowen, Margot E., Yamamoto, Guilherme L., Kozakewich, Harry P.W., Warman, Matthew L.

“…Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) is a sporadically occurring, nonhereditary disorder characterized by…”
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Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma by Powers, John T., Tsanov, Kaloyan M., Pearson, Daniel S., Roels, Frederik, Spina, Catherine S., Ebright, Richard, Seligson, Marc, de Soysa, Yvanka, Cahan, Patrick, Theißen, Jessica, Tu, Ho-Chou, Han, Areum, Kurek, Kyle C., LaPier, Grace S., Osborne, Jihan K., Ross, Samantha J., Cesana, Marcella, Collins, James J., Berthold, Frank, Daley, George Q.

“…Poor prognosis in neuroblastoma is associated with genetic amplification of MYCN . MYCN is itself a target of let-7 , a tumour suppressor family of microRNAs…”
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SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates by Bowen, Margot E, Ayturk, Ugur M, Kurek, Kyle C, Yang, Wentian, Warman, Matthew L

“…Loss of PTPN11/SHP2 in mice or in human metachondromatosis (MC) patients causes benign cartilage tumors on the bone surface (exostoses) and within bones…”
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PIK3CA Activating Mutations in Facial Infiltrating Lipomatosis by Maclellan, Reid A., Luks, Valerie L., Vivero, Matthew P., Mulliken, John B., Zurakowski, David, Padwa, Bonnie L., Warman, Matthew L., Greene, Arin K., Kurek, Kyle C.

“…Facial infiltrating lipomatosis is a nonheritable disorder characterized by hemifacial soft-tissue and skeletal overgrowth, precocious dental development,…”
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Novel presentation of cranial fasciitis of the mandible: Case report and literature review by de Champlain, Katie, Kurek, Kyle C., Yunker, Warren K.

“…Cranial fasciitis (CF) is a rare benign fibroblastic lesion of the scalp, most commonly affecting the pediatric population. The authors conducted a literature…”
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Anti-lubricin monoclonal antibodies created using lubricin-knockout mice immunodetect lubricin in several species and in patients with healthy and diseased joints by Ai, Minrong, Cui, Yajun, Sy, Man-Sun, Lee, David M, Zhang, Ling Xiu, Larson, Katherine M, Kurek, Kyle C, Jay, Gregory D, Warman, Matthew L

“…Lubricin, encoded by the gene PRG4, is the principal lubricant in articulating joints. We immunized mice genetically deficient for lubricin (Prg4-/-) with…”
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Hamartoma-like lesions in the mouse retina: an animal model of Pten hamartoma tumour syndrome by Tachibana, Nobuhiko, Touahri, Yacine, Dixit, Rajiv, David, Luke Ajay, Adnani, Lata, Cantrup, Robert, Aavani, Tooka, Wong, Rachel O, Logan, Cairine, Kurek, Kyle C, Schuurmans, Carol

“…hamartoma tumour syndrome (PHTS) is a heterogeneous group of rare, autosomal dominant disorders associated with germline mutations. PHTS patients routinely…”
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Villin Immunohistochemistry Is a Reliable Method for Diagnosing Microvillus Inclusion Disease by Shillingford, Nick M, Calicchio, Monica L, Teot, Lisa A, Boyd, Theonia, Kurek, Kyle C, Goldsmith, Jeffrey D, Bousvaros, Athos, Perez-Atayde, Antonio R, Kozakewich, Harry P.W

“…Microvillus inclusion disease (MVID) is a rare congenital disorder that manifests early in infancy as intractable watery diarrhea. The entity is characterized…”
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MiR‐16‐1‐3p and miR‐16‐2‐3p possess strong tumor suppressive and antimetastatic properties in osteosarcoma by Maximov, Vadim V., Akkawi, Rania, Khawaled, Saleh, Salah, Zaidoun, Jaber, Lina, Barhoum, Ahlam, Or, Omer, Galasso, Marco, Kurek, Kyle C., Yavin, Eylon, Aqeilan, Rami I.

“…Osteosarcoma (OS) is an aggressive malignancy affecting mostly children and adolescents. MicroRNAs (miRNAs) play important roles in OS development and…”
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The genomic landscape of pediatric Ewing sarcoma by Crompton, Brian D, Stewart, Chip, Taylor-Weiner, Amaro, Alexe, Gabriela, Kurek, Kyle C, Calicchio, Monica L, Kiezun, Adam, Carter, Scott L, Shukla, Sachet A, Mehta, Swapnil S, Thorner, Aaron R, de Torres, Carmen, Lavarino, Cinzia, Suñol, Mariona, McKenna, Aaron, Sivachenko, Andrey, Cibulskis, Kristian, Lawrence, Michael S, Stojanov, Petar, Rosenberg, Mara, Ambrogio, Lauren, Auclair, Daniel, Seepo, Sara, Blumenstiel, Brendan, DeFelice, Matthew, Imaz-Rosshandler, Ivan, Schwarz-Cruz Y Celis, Angela, Rivera, Miguel N, Rodriguez-Galindo, Carlos, Fleming, Mark D, Golub, Todd R, Getz, Gad, Mora, Jaume, Stegmaier, Kimberly

“…Pediatric Ewing sarcoma is characterized by the expression of chimeric fusions of EWS and ETS family transcription factors, representing a paradigm for…”
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A somatic activating NRAS variant associated with kaposiform lymphangiomatosis by Barclay, Sarah F., Inman, Kyle W., Luks, Valerie L., McIntyre, John B., Al-Ibraheemi, Alyaa, Church, Alanna J., Perez-Atayde, Antonio R., Mangray, Shamlal, Jeng, Michael, Kreimer, Sara R., Walker, Lori, Fishman, Steven J., Alomari, Ahmad I., Chaudry, Gulraiz, Trenor, Cameron C., Adams, Denise, Kozakewich, Harry P.W., Kurek, Kyle C.

“…Kaposiform lymphangiomatosis (KLA) is a rare, frequently aggressive, systemic disorder of the lymphatic vasculature, occurring primarily in children. Even with…”
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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome by Pansuriya, Twinkal C, van Eijk, Ronald, d'Adamo, Pio, van Ruler, Maayke A J H, Kuijjer, Marieke L, Oosting, Jan, Cleton-Jansen, Anne-Marie, van Oosterwijk, Jolieke G, Verbeke, Sofie L J, Meijer, Daniëlle, van Wezel, Tom, Nord, Karolin H, Sangiorgi, Luca, Toker, Berkin, Liegl-Atzwanger, Bernadette, San-Julian, Mikel, Sciot, Raf, Limaye, Nisha, Kindblom, Lars-Gunnar, Daugaard, Soeren, Godfraind, Catherine, Boon, Laurence M, Vikkula, Miikka, Kurek, Kyle C, Szuhai, Karoly, French, Pim J, Bovée, Judith V M G

“…Judith Bovée and colleagues report the identification of somatic mosaic mutations in IDH1 and IDH2 in tumors from individuals with Ollier disease and Maffucci…”
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Unilateral congenital pulmonary lymphangiectasis presenting with pneumothorax and an NRAS variant by AlTeneiji, Majid, Brundler, Marie‐Anne, Noseworthy, Mary, Kurek, Kyle C.

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Lichen sclerosus of the upper eyelid in a paediatric patient: a novel presentation by Kryshtalskyj, Michael T, Agi, Jorge, Ramien, Michele L, Kurek, Kyle C, Kherani, Femida

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Kaposiform Lymphangiomatosis: Pathologic Aspects in 43 Patients by Perez-Atayde, Antonio R., Debelenko, Larisa, Al-Ibraheemi, Alyaa, Eng, Whitney, Ruiz-Gutierrez, Melisa, O’Hare, Meghan, Croteau, Stacy E., Trenor, Cameron C., Boyer, Debra, Balkin, Daniel M., Barclay, Sarah F., Hsi Dickie, Belinda, Liang, Marilyn G., Chaudry, Gulraiz, Alomari, Ahmad I., Mulliken, John B., Adams, Denise M., Kurek, Kyle C., Fishman, Steven J., Kozakewich, Harry P.W.

“…Kaposiform lymphangiomatosis is an uncommon generalized lymphatic anomaly with distinctive clinical, radiologic, histopathologic, and molecular findings…”
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Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants by Chang, Caitlin A., Perrier, Renee, Kurek, Kyle C., Estrada‐Veras, Juvianee, Lehman, Anna, Yip, Stephen, Hendson, Glenda, Diamond, Carol, Pinchot, Jason W., Tran, Jennifer M., Arkin, Lisa M., Drolet, Beth A., Napier, Melanie P., O'Neill, Sarah A., Balci, Tugce B., Keppler‐Noreuil, Kim M.

“…Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo‐cranio‐cutaneous lipomatosis, and Schimmelpenning‐Feuerstein‐Mims syndromes,…”
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Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights by Slack, Jonathan C, Bründler, Marie-Anne, Chang, Caitlin A, Perrier, Renee, Lafay-Cousin, Lucie, Kurek, Kyle C

“…Mosaic RASopathies are an emerging group of disorders characterized by mosaic or post-zygotic activating mutations in genes of the RAS/MAPKinase signaling…”
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CAP-ACP Workload Model for Advanced Diagnostics in Precision Medicine by Park, Paul C, Kurek, Kyle C, DeCoteau, John, Howlett, Christopher J, Hawkins, Cynthia, Izevbaye, Iyare, Carter, Michael D, Redpath, Margaret, Lo, Bryan, Alex, Deepu, Yousef, George, Yip, Stephen, Maung, Raymond

“…Abstract Objectives In precision medicine, where oncologic management is tailored to the individual’s clinical and genetic profiles, advanced diagnostic…”
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Submucosal Colonic Lipoblastoma Presenting With Colo-colonic Intussusception in an Infant by Brundler, Marie-Anne, Kurek, Kyle C, Patel, Kamlesh, Jester, Ingo

“…Lipoblastoma is a benign adipose tumor typically presenting in infancy in superficial soft tissues of extremities. Intestinal complications secondary to…”
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Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding by Khaytin, Ilya, Victor, A. Kaitlyn, Barclay, Sarah F., Benson, Leslie A., Slattery, Susan M., Rand, Casey M., Kurek, Kyle C., Weese-Mayer, Debra E.

“…Purpose To provide an overview of the discovery, presentation, and management of Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and…”
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