Search Results - "Kelsell, David P"

Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population by Sawada, Genta, Niida, Atsushi, Uchi, Ryutaro, Hirata, Hidenari, Shimamura, Teppei, Suzuki, Yutaka, Shiraishi, Yuichi, Chiba, Kenichi, Imoto, Seiya, Takahashi, Yusuke, Iwaya, Takeshi, Sudo, Tomoya, Hayashi, Tomoatsu, Takai, Hiroki, Kawasaki, Yoshihiro, Matsukawa, Takashi, Eguchi, Hidetoshi, Sugimachi, Keishi, Tanaka, Fumiaki, Suzuki, Hiromichi, Yamamoto, Ken, Ishii, Hideshi, Shimizu, Makiko, Yamazaki, Hiroshi, Yamazaki, Makoto, Tachimori, Yuji, Kajiyama, Yoshiaki, Natsugoe, Shoji, Fujita, Hiromasa, Mafune, Kenichi, Tanaka, Yoichi, Kelsell, David P, Scott, Claire A, Tsuji, Shoji, Yachida, Shinichi, Shibata, Tatsuhiro, Sugano, Sumio, Doki, Yuichiro, Akiyama, Tetsu, Aburatani, Hiroyuki, Ogawa, Seishi, Miyano, Satoru, Mori, Masaki, Mimori, Koshi

“…Background & Aims Esophageal squamous cell carcinoma (ESCC) is the predominant form of esophageal cancer in Japan. Smoking and drinking alcohol are…”
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Cell-cell connectivity: desmosomes and disease by Brooke, Matthew A, Nitoiu, Daniela, Kelsell, David P

“…Cell–cell connectivity is an absolute requirement for the correct functioning of cells, tissues and entire organisms. At the level of the individual cell,…”
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DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation by Tummala, Hemanth, Walne, Amanda J., Williams, Mike, Bockett, Nicholas, Collopy, Laura, Cardoso, Shirleny, Ellison, Alicia, Wynn, Rob, Leblanc, Thierry, Fitzgibbon, Jude, Kelsell, David P., van Heel, David A., Payne, Elspeth, Plagnol, Vincent, Dokal, Inderjeet, Vulliamy, Tom

“…A substantial number of individuals with bone marrow failure (BMF) present with one or more extra-hematopoietic abnormality. This suggests a constitutional or…”
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Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion by Blaydon, Diana C, Biancheri, Paolo, Di, Wei-Li, Plagnol, Vincent, Cabral, Rita M, Brooke, Matthew A, van Heel, David A, Ruschendorf, Franz, Toynbee, Mark, Walne, Amanda, O'Toole, Edel A, Martin, Joanne E, Lindley, Keith, Vulliamy, Tom, Abrams, Dominic J, MacDonald, Thomas T, Harper, John I, Kelsell, David P

“…A mutation that abrogates the function of ADAM17, an enzyme that cleaves cell-surface proteins such as tumor necrosis factor α, was found to be associated with…”
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iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility by Chao-Chu, Jennifer, Murtough, Stephen, Zaman, Najwa, Pennington, Daniel J., Blaydon, Diana C., Kelsell, David P.

“…The palmoplantar epidermis is a specialized area of the skin that undergoes high levels of mechanical stress. The palmoplantar keratinization and esophageal…”
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Defective channels lead to an impaired skin barrier by Blaydon, Diana C, Kelsell, David P

“…Channels are integral membrane proteins that form a pore, allowing the passive movement of ions or molecules across a membrane (along a gradient), either…”
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Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma by Blaydon, Diana C., Lind, Lisbet K., Plagnol, Vincent, Linton, Kenneth J., Smith, Francis J.D., Wilson, Neil J., McLean, W.H. Irwin, Munro, Colin S., South, Andrew P., Leigh, Irene M., O’Toole, Edel A., Lundström, Anita, Kelsell, David P.

“…Autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoption of a white, spongy appearance of affected areas upon…”
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Key functions for gap junctions in skin and hearing by Scott, Claire A, Kelsell, David P

“…Cx (connexin) proteins are components of gap junctions which are aqueous pores that allow intercellular exchange of ions and small molecules. Mutations in Cx…”
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Identification of novel immune cell signature in gastroesophageal reflux disease: altered mucosal mast cells and dendritic cell profile by Ustaoglu, Ahsen, Daudali, Fatema Arif, D'afflitto, Manfredi, Murtough, Stephen, Lee, Chung, Moreno, Estefania, Blaydon, Diana C, Kelsell, David P, Sifrim, Daniel, Woodland, Philip, Peiris, Madusha

“…Heartburn pathogenesis in GERD remains incompletely understood. We aimed to identify differences in the immune cell signature and sensory mucosal markers…”
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Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion by Gupta, Abhilasha, Nitoiu, Daniela, Brennan-Crispi, Donna, Addya, Sankar, Riobo, Natalia A, Kelsell, David P, Mahoney, Mỹ G

“…Cell-cell adhesion is paramount in providing and maintaining multicellular structure and signal transmission between cells. In the skin, disruption to…”
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RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome by Blaydon, Diana C., Etheridge, Sarah L., Risk, Janet M., Hennies, Hans-Christian, Gay, Laura J., Carroll, Rebecca, Plagnol, Vincent, McRonald, Fiona E., Stevens, Howard P., Spurr, Nigel K., Bishop, D. Timothy, Ellis, Anthony, Jankowski, Janusz, Field, John K., Leigh, Irene M., South, Andrew P., Kelsell, David P.

“…Tylosis esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk…”
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A Novel Mechanism for Activation of GLI1 by Nuclear SMO That Escapes Anti-SMO Inhibitors by Rahman, Muhammad M, Hazan, Allon, Selway, Joanne L, Herath, Dimalee S, Harwood, Catherine A, Pirzado, Muhammad S, Atkar, Ravinder, Kelsell, David P, Linton, Kenneth J, Philpott, Mike P, Neill, Graham W

“…Small-molecule inhibitors of the Hedgehog (HH) pathway receptor Smoothened (SMO) have been effective in treating some patients with basal cell carcinoma (BCC),…”
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Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions by Pigors, Manuela, Sarig, Ofer, Heinz, Lisa, Plagnol, Vincent, Fischer, Judith, Mohamad, Janan, Malchin, Natalia, Rajpopat, Shefali, Kharfi, Monia, Lestringant, Giles G., Sprecher, Eli, Kelsell, David P., Blaydon, Diana C.

“…SERPINS comprise a large and functionally diverse family of serine protease inhibitors. Here, we report three unrelated families with loss-of-function…”
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Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16 by Maruthappu, Thiviyani, Chikh, Anissa, Fell, Benjamin, Delaney, Paul J., Brooke, Matthew A., Levet, Clemence, Moncada-Pazos, Angela, Ishida-Yamamoto, Akemi, Blaydon, Diana, Waseem, Ahmad, Leigh, Irene M., Freeman, Matthew, Kelsell, David P.

“…Keratin 16 (K16) is a cytoskeletal scaffolding protein highly expressed at pressure-bearing sites of the mammalian footpad. It can be induced in…”
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p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response by Arcidiacono, Paola, Webb, Catherine M., Brooke, Matthew A., Zhou, Huiqing, Delaney, Paul J., Ng, Keat-Eng, Blaydon, Diana C., Tinker, Andrew, Kelsell, David P., Chikh, Anissa

“…Hyperproliferative keratinocytes induced by trauma, hyperkeratosis and/or inflammation display molecular signatures similar to those of palmoplantar epidermis…”
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Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion by Blaydon, Diana C., Nitoiu, Daniela, Eckl, Katja-Martina, Cabral, Rita M., Bland, Philip, Hausser, Ingrid, van Heel, David A., Rajpopat, Shefali, Fischer, Judith, Oji, Vinzenz, Zvulunov, Alex, Traupe, Heiko, Hennies, Hans Christian, Kelsell, David P.

“…Autosomal-recessive exfoliative ichthyosis presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of nonerythematous skin on…”
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Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads by Lin, Zhimiao, Zhao, Jiahui, Nitoiu, Daniela, Scott, Claire A., Plagnol, Vincent, Smith, Frances J.D., Wilson, Neil J., Cole, Christian, Schwartz, Mary E., McLean, W.H. Irwin, Wang, Huijun, Feng, Cheng, Duo, Lina, Zhou, Eray Yihui, Ren, Yali, Dai, Lanlan, Chen, Yulan, Zhang, Jianguo, Xu, Xun, O’Toole, Edel A., Kelsell, David P., Yang, Yong

“…Calpastatin is an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. Here we show that loss-of-function mutations in calpastatin…”
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Junctions in human health and inherited disease by Getsios, Spiro, Kelsell, David P., Forge, Andy

“…Issue Title: Junctions in human health and inherited disease…”
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p63 Mediates an Apoptotic Response to Pharmacological and Disease-Related ER Stress in the Developing Epidermis by Pyati, Ujwal J., Gjini, Evisa, Carbonneau, Seth, Lee, Jeong-Soo, Guo, Feng, Jette, Cicely A., Kelsell, David P., Look, A. Thomas

“…Endoplasmic reticulum (ER) stress triggers tissue-specific responses that culminate in either cellular adaptation or apoptosis, but the genetic networks…”
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iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death by Notari, Mario, Hu, Ying, Sutendra, Gopinath, Dedeić, Zinaida, Lu, Min, Dupays, Laurent, Yavari, Arash, Carr, Carolyn A., Zhong, Shan, Opel, Aaisha, Tinker, Andrew, Clarke, Kieran, Watkins, Hugh, Ferguson, David J. P., Kelsell, David P., de Noronha, Sofia, Sheppard, Mary N., Hollinshead, Mike, Mohun, Timothy J., Lu, Xin

“…Significance Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease that is selective to the right side of the heart and results in heart failure…”
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