Search Results - "Charles, Adrian K."

The Possible Role of Placental Morphometry in the Detection of Fetal Growth Restriction by Salavati, Nastaran, Smies, Maddy, Ganzevoort, Wessel, Charles, Adrian K, Erwich, Jan Jaap, Plösch, Torsten, Gordijn, Sanne J

“…Fetal growth restriction (FGR) is often the result of placental insufficiency and is characterized by insufficient transplacental transport of nutrients and…”
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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy by Ravenscroft, Gianina, Miyatake, Satoko, Lehtokari, Vilma-Lotta, Todd, Emily J., Vornanen, Pauliina, Yau, Kyle S., Hayashi, Yukiko K., Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Saitsu, Hirotomo, Osaka, Hitoshi, Yamashita, Sumimasa, Ohya, Takashi, Sakamoto, Yuko, Koshimizu, Eriko, Imamura, Shintaro, Yamashita, Michiaki, Ogata, Kazuhiro, Shiina, Masaaki, Bryson-Richardson, Robert J., Vaz, Raquel, Ceyhan, Ozge, Brownstein, Catherine A., Swanson, Lindsay C., Monnot, Sophie, Romero, Norma B., Amthor, Helge, Kresoje, Nina, Sivadorai, Padma, Kiraly-Borri, Cathy, Haliloglu, Goknur, Talim, Beril, Orhan, Diclehan, Kale, Gulsev, Charles, Adrian K., Fabian, Victoria A., Davis, Mark R., Lammens, Martin, Sewry, Caroline A., Manzur, Adnan, Muntoni, Francesco, Clarke, Nigel F., North, Kathryn N., Bertini, Enrico, Nevo, Yoram, Willichowski, Ekkhard, Silberg, Inger E., Topaloglu, Haluk, Beggs, Alan H., Allcock, Richard J.N., Nishino, Ichizo, Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Laing, Nigel G.

“…Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of…”
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Inflammatory and haematological markers in the maternal, umbilical cord and infant circulation in histological chorioamnionitis by Howman, Rebecca A, Charles, Adrian K, Jacques, Angela, Doherty, Dorota A, Simmer, Karen, Strunk, Tobias, Richmond, Peter C, Cole, Catherine H, Burgner, David P

“…The relationship between histological chorioamnionitis and haematological and biochemical markers in mothers and infants at delivery, and in infants…”
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Solitary, multifocal and generalized myofibromas: clinicopathological and immunohistochemical features of 114 cases by Oudijk, Lindsey, den Bakker, Michael A, Hop, Wim C J, Cohen, Marta, Charles, Adrian K, Alaggio, Rita, Coffin, Cheryl M, de Krijger, Ronald R

“…Oudijk L, den Bakker M A, Hop W C J, Cohen M, Charles A K, Alaggio R, Coffin C M & de Krijger R R (2012) Histopathology 60, E1–E11 Solitary, multifocal and…”
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Placental characteristics and birthweight by Salafia, Carolyn M., Zhang, Jun, Charles, Adrian K., Bresnahan, Michaeline, Shrout, Patrick, Sun, Wenyu, Maas, Elizabeth M.

“…Summary Standard gross placental measures capture dimensions relevant to specific placental functions. Our objective was to determine their accountability…”
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Connective tissue growth factor is expressed in bone marrow stromal cells and promotes interleukin-7-dependent B lymphopoiesis by Cheung, Laurence C, Strickland, Deborah H, Howlett, Meegan, Ford, Jette, Charles, Adrian K, Lyons, Karen M, Brigstock, David R, Goldschmeding, Roel, Cole, Catherine H, Alexander, Warren S, Kees, Ursula R

“…Hematopoiesis occurs in a complex bone marrow microenvironment in which bone marrow stromal cells provide critical support to the process through direct cell…”
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Frequency and Timing of Loss of Imprinting at 11p13 and 11p15 in Wilms' Tumor Development by Brown, Keith W, Power, Frances, Moore, Beth, Charles, Adrian K, Malik, Karim T A

“…Epigenetic changes occur frequently in Wilms' tumor (WT), especially loss of imprinting (LOI) of IGF2/H19 at 11p15. Our previous results have identified…”
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Function of caspase-14 in trophoblast differentiation by White, Lloyd J, Declercq, Wim, Arfuso, Frank, Charles, Adrian K, Dharmarajan, Arun M

“…Within the human placenta, the cytotrophoblast consists of a proliferative pool of progenitor cells which differentiate to replenish the overlying continuous,…”
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Biallelic TLR4 deficiency in humans by Capitani, Melania, Al-Shaibi, Ahmad A., Pandey, Sumeet, Gartner, Lisa, Taylor, Henry, Hubrack, Satanay Z., Agrebi, Nourhen, Al-Mohannadi, Muneera Jassim, Al Kaabi, Saad, Vogl, Thomas, Roth, Johannes, Kotlarz, Daniel, Klein, Christoph, Charles, Adrian K., Vijayakumar, Vinayan, Karim, Mohammed Yousuf, George, Bruce, Travis, Simon P., Elawad, Mamoun, Lo, Bernice, Uhlig, Holm H.

“…Toll-like receptors (TLRs) mediate functions for host defense and inflammatory responses. TLR4 recognizes LPS, a component of gram-negative bacteria as well as…”
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Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease by Kubo, Satoshi, Fritz, Jill M., Raquer-McKay, Hayley M., Kataria, Rhea, Vujkovic-Cvijin, Ivan, Al-Shaibi, Ahmad, Yao, Yikun, Zheng, Lixin, Zou, Juan, Waldman, Alex D., Jing, Xinyi, Farley, Taylor K., Park, Ann Y., Oler, Andrew J., Charles, Adrian K., Makhlouf, Melanie, AbouMoussa, Eman H., Hasnah, Reem, Saraiva, Luis R., Ganesan, Sundar, Al-Subaiey, Abdulrahman Ahmed, Matthews, Helen, Flano, Emilio, Lee, Hyun Hee, Freeman, Alexandra F., Sefer, Asena Pınar, Sayar, Ersin, Çakır, Erkan, Karakoc-Aydiner, Elif, Baris, Safa, Belkaid, Yasmine, Ozen, Ahmet, Lo, Bernice, Lenardo, Michael J.

“…We report a pleiotropic disease due to loss-of-function mutations in RHBDF2, the gene encoding iRHOM2, in two kindreds with recurrent infections in different…”
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Placenta and Fetal Growth Restriction by SALAFIA, CAROLYN M, CHARLES, ADRIAN K, MAAS, ELIZABETH M

“…The placenta, as the vector for all maternal-fetal oxygen and nutrient exchange, is a principal influence on birthweight. Placental weight summarizes laterally…”
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Risk of cancer among children with birth defects: A novel approach by Dawson, Somer, Charles, Adrian K., Bower, Carol, de Klerk, Nicholas H., Milne, Elizabeth

“…Background Associations between birth defects (BDs) and childhood cancers have been studied previously and have identified several specific birth defect‐cancer…”
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Regulator of G protein signaling 5 is a determinant of gestational hypertension and preeclampsia by Holobotovskyy, Vasyl, Chong, Yee Seng, Burchell, Jennifer, He, Bo, Phillips, Michael, Leader, Leo, Murphy, Timothy V, Sandow, Shaun L, McKitrick, Douglas J, Charles, Adrian K, Tare, Marianne, Arnolda, Leonard F, Ganss, Ruth

“…Preeclampsia is a systemic vascular disorder of pregnancy and is associated with increased sensitivity to angiotensin II (AngII) and hypertension. The cause of…”
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Human AGR2 Deficiency Causes Mucus Barrier Dysfunction and Infantile Inflammatory Bowel Disease by Al-Shaibi, Ahmad A., Abdel-Motal, Ussama M., Hubrack, Satanay Z., Bullock, Alex N., Al-Marri, Amna A., Agrebi, Nourhen, Al-Subaiey, Abdulrahman A., Ibrahim, Nazira A., Charles, Adrian K., Al-Kaabi, Saad R., Al-Mohannadi, Muneera J., Al Ejji, Khalid M., Yakoob, Rafie A., Abunahia, Nevin S.M., Mir, Fayaz A., Hamad Medical Corporation, Doha, Qatar, Uhlig, Holm H., Travis, Simon P.L., University of Oxford, Oxford, UK, Elawad, Mamoun, Akobeng, Anthony K., Ibrahim, Nazira A., Al-Mudahka, Fatma, Lo, Bernice, Sidra Medicine, Doha, Qatar, Elawad, Mamoun, Uhlig, Holm H., Lo, Bernice

“…The gastrointestinal epithelium plays a crucial role in maintaining homeostasis with the gut microbiome. Mucins are essential for intestinal barrier function…”
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Pediatric Cervicofacial Actinomycosis: Lessons From a Craniofacial Unit by Glass, Graeme E, Staruch, Robert M T, Bradshaw, Karen, Charles, Adrian K, Stotland, Mitchell A

“…Actinomycosis is a rare disease that remains difficult to diagnose and manage. Prompted by 2 recent cases the authors sought evidence-based conclusions about…”
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Caspase-14 expression in the human placenta by Daniel, WR Kam, Adrian, K Charles, Arun, M Dharmarajan

“…Caspase-14 is involved in epidermal differentiation, and previous studies demonstrated abundant expression in the skin. However, the expression of caspase-14…”
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Fetal akinesia: review of the genetics of the neuromuscular causes by Ravenscroft, Gianina, Sollis, Elliot, Charles, Adrian K, North, Kathryn N, Baynam, Gareth, Laing, Nigel G

“…Fetal akinesia refers to a broad spectrum of disorders in which the unifying feature is a reduction or lack of fetal movement. Fetal akinesias may be caused by…”
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Overexpression of Aromatase Associated With Loss of Heterozygosity of the STK11 Gene Accounts for Prepubertal Gynecomastia in Boys with Peutz-Jeghers Syndrome by Ham, Seungmin, Meachem, Sarah J, Choong, Catherine S, Charles, Adrian K, Baynam, Gareth S, Jones, Timothy W, Samarajeewa, Nirukshi U, Simpson, Evan R, Brown, Kristy A

“…Context: Peutz-Jeghers syndrome (PJS) is an autosomal-dominant disorder that arises as a consequence of mutations in the STK11 gene that encodes LKB1. PJS…”
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Caudal dysgenesis and sirenomelia‐single centre experience suggests common pathogenic basis by Thottungal, Anjana D., Charles, Adrian K., Dickinson, Jan E., Bower, Carol

“…Abnormally formed lower limbs with varying degrees of fusion are the major feature of sirenomelia whereas maldeveloped lower limbs without fusion are found in…”
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Preclinical evaluation of drugs to block inflammation-driven preterm birth by Ireland, Demelza J, Nathan, Elizabeth A, Li, Shaofu, Charles, Adrian K, Stinson, Lisa F, Kemp, Matthew W, Newnham, John P, Keelan, Jeffrey A

“…Intrauterine inflammation, the major cause of early preterm birth, can have microbial and sterile aetiologies. We assessed in a Transwell model the…”
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