Suchergebnisse - "Molecular Sequence Data"

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans von Alders, Marielle, Hogan, Benjamin M, Gjini, Evisa, Salehi, Faranak, Al-Gazali, Lihadh, Hennekam, Eric A, Holmberg, Eva E, Mannens, Marcel M A M, Mulder, Margot F, Offerhaus, G Johan A, Prescott, Trine E, Schroor, Eelco J, Verheij, Joke B G M, Witte, Merlijn, Zwijnenburg, Petra J, Vikkula, Mikka, Schulte-Merker, Stefan, Hennekam, Raoul C

“… Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary …”
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A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy von Cabianca, Daphne S, Casa, Valentina, Bodega, Beatrice, Xynos, Alexandros, Ginelli, Enrico, Tanaka, Yujiro, Gabellini, Davide

“… Here we show that the Polycomb group of epigenetic repressors targets D4Z4 in healthy subjects and that D4Z4 deletion is associated with reduced Polycomb silencing in FSHD patients …”
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IL-17A is essential for cell activation and inflammatory gene circuits in subjects with psoriasis von Krueger, James G., Fretzin, Scott, Suárez-Fariñas, Mayte, Haslett, Patrick A., Phipps, Krista M., Cameron, Gregory S., McColm, Juliet, Katcherian, Artemis, Cueto, Inna, White, Traci, Banerjee, Subhashis, Hoffman, Robert W.

“… In subjects with psoriasis, inflammation and epidermal hyperplasia are thought to be controlled by T cell–derived cytokines …”
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MicroRNA-339-5p down-regulates protein expression of β-site amyloid precursor protein-cleaving enzyme 1 (BACE1) in human primary brain cultures and is reduced in brain tissue specimens of Alzheimer disease subjects von Long, Justin M, Ray, Balmiki, Lahiri, Debomoy K

“… Alzheimer disease (AD) results, in part, from the excess accumulation of the amyloid-β (Aβ) peptide as neuritic plaques in the brain. The short Aβ peptide is …”
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Expression of microRNAs and Other Small RNAs in Prefrontal Cortex in Schizophrenia, Bipolar Disorder and Depressed Subjects von Smalheiser, Neil R., Lugli, Giovanni, Zhang, Hui, Rizavi, Hooriyah, Cook, Edwin H., Dwivedi, Yogesh

“… In the present study, we assessed microRNA expression in prefrontal cortex (Brodmann area 10) of a well-characterized cohort of major depressed, bipolar, and schizophrenia subjects …”
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Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy von Lim, Jae Seok, Kim, Woo-il, Kang, Hoon-Chul, Kim, Se Hoon, Park, Ah Hyung, Park, Eun Kyung, Cho, Young-Wook, Kim, Sangwoo, Kim, Ho Min, Kim, Jeong A, Kim, Junho, Rhee, Hwanseok, Kang, Seok-Gu, Kim, Heung Dong, Kim, Daesoo, Kim, Dong-Seok, Lee, Jeong Ho

“… ×) validated by site-specific amplicon sequencing (100–347,499×) in paired brain-blood DNA from four subjects with FCDII and uncovered a de novo brain somatic mutation, mechanistic target of rapamycin ( MTOR) c.7280T>C (p.Leu2427Pro) in two subjects …”
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A guide into glycosciences: How chemistry, biochemistry and biology cooperate to crack the sugar code von Solís, Dolores, Bovin, Nicolai V., Davis, Anthony P., Jiménez-Barbero, Jesús, Romero, Antonio, Roy, René, Smetana, Karel, Gabius, Hans-Joachim

“… The most demanding challenge in research on molecular aspects within the flow of biological information is posed by the complex carbohydrates (glycan part of …”
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Composition, variability, and temporal stability of the intestinal microbiota of the elderly von Claesson, Marcus J, Cusack, Siobhán, O'Sullivan, Orla, Greene-Diniz, Rachel, de Weerd, Heleen, Flannery, Edel, Marchesi, Julian R, Falush, Daniel, Dinan, Timothy, Fitzgerald, Gerald, Stanton, Catherine, van Sinderen, Douwe, O'Connor, Michael, Harnedy, Norma, O'Connor, Kieran, Henry, Colm, O'Mahony, Denis, Fitzgerald, Anthony P, Shanahan, Fergus, Twomey, Cillian, Hill, Colin, Ross, R Paul, O'Toole, Paul W

“… We applied pyrosequencing of over 40,000 16S rRNA gene V4 region amplicons per subject to characterize the fecal microbiota in 161 subjects aged 65 y and older and 9 younger control subjects …”
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Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans von Calvo, Sarah E, Pagliarini, David J, Mootha, Vamsi K

“… Upstream ORFs (uORFs) are mRNA elements defined by a start codon in the 5' UTR that is out-of-frame with the main coding sequence. Although uORFs are present …”
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The pyruvate dehydrogenase complexes: structure-based function and regulation von Patel, Mulchand S, Nemeria, Natalia S, Furey, William, Jordan, Frank

“… The human PDC is subject to inactivation at E1 by serine phosphorylation by four kinases, an inactivation reversed by the action of two phosphatases …”
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Targeting B cell receptor signaling with ibrutinib in diffuse large B cell lymphoma von Wilson, Wyndham H, Young, Ryan M, Schmitz, Roland, Yang, Yandan, Pittaluga, Stefania, Wright, George, Lih, Chih-Jian, Williams, P Mickey, Shaffer, Arthur L, Gerecitano, John, de Vos, Sven, Goy, Andre, Kenkre, Vaishalee P, Barr, Paul M, Blum, Kristie A, Shustov, Andrei, Advani, Ranjana, Fowler, Nathan H, Vose, Julie M, Elstrom, Rebecca L, Habermann, Thomas M, Barrientos, Jacqueline C, McGreivy, Jesse, Fardis, Maria, Chang, Betty Y, Clow, Fong, Munneke, Brian, Moussa, Davina, Beaupre, Darrin M, Staudt, Louis M

“… In a phase 1/2 clinical trial that involved 80 subjects with relapsed or refractory DLBCL, ibrutinib produced complete or partial responses in 37% (14/38 …”
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Autoreactive T cells specific for insulin B:11-23 recognize a low-affinity peptide register in human subjects with autoimmune diabetes von Yang, Junbao, Chow, I-Ting, Sosinowski, Tomasz, Torres-Chinn, Nadia, Greenbaum, Carla J, James, Eddie A, Kappler, John W, Davidson, Howard W, Kwok, William W

“… The objective of this study was to investigate T-cell responses to a low-affinity self-epitope in subjects with T1D …”
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Human B-cell isotype switching origins of IgE von Looney, Timothy J., Lee, Ji-Yeun, Roskin, Krishna M., Hoh, Ramona A., King, Jasmine, Glanville, Jacob, Liu, Yi, Pham, Tho D., Dekker, Cornelia L., Davis, Mark M., Boyd, Scott D.

“…  cells in human subjects remain a subject of debate. Much of our knowledge of IgE lineage development derives from model studies in mice rather than from human subjects …”
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Synaptic, transcriptional and chromatin genes disrupted in autism von De Rubeis, Silvia, He, Xin, Goldberg, Arthur P., Poultney, Christopher S., Samocha, Kaitlin, Ercument Cicek, A., Kou, Yan, Liu, Li, Fromer, Menachem, Walker, Susan, Singh, Tarjinder, Klei, Lambertus, Kosmicki, Jack, Fu, Shih-Chen, Aleksic, Branko, Biscaldi, Monica, Bolton, Patrick F., Brownfeld, Jessica M., Cai, Jinlu, Campbell, Nicholas G., Carracedo, Angel, Chahrour, Maria H., Chiocchetti, Andreas G., Coon, Hilary, Crawford, Emily L., Crooks, Lucy, Curran, Sarah R., Dawson, Geraldine, Duketis, Eftichia, Fernandez, Bridget A., Gallagher, Louise, Geller, Evan, Guter, Stephen J., Sean Hill, R., Ionita-Laza, Iuliana, Jimenez Gonzalez, Patricia, Kilpinen, Helena, Klauck, Sabine M., Kolevzon, Alexander, Lee, Irene, Lei, Jing, Lehtimäki, Terho, Lin, Chiao-Feng, Ma’ayan, Avi, Marshall, Christian R., McInnes, Alison L., Neale, Benjamin, Owen, Michael J., Ozaki, Norio, Parellada, Mara, Parr, Jeremy R., Purcell, Shaun, Puura, Kaija, Rajagopalan, Deepthi, Rehnström, Karola, Reichenberg, Abraham, Sabo, Aniko, Sachse, Michael, Sanders, Stephan J., Schafer, Chad, Schulte-Rüther, Martin, Skuse, David, Stevens, Christine, Szatmari, Peter, Tammimies, Kristiina, Valladares, Otto, Voran, Annette, Wang, Li-San, Weiss, Lauren A., Jeremy Willsey, A., Yu, Timothy W., Yuen, Ryan K. C., Cook, Edwin H., Freitag, Christine M., Gill, Michael, Hultman, Christina M., Lehner, Thomas, Palotie, Aarno, Schellenberg, Gerard D., Sklar, Pamela, State, Matthew W., Sutcliffe, James S., Walsh, Christopher A., Scherer, Stephen W., Zwick, Michael E., Barrett, Jeffrey C., Cutler, David J., Roeder, Kathryn, Devlin, Bernie, Daly, Mark J., Buxbaum, Joseph D.

“… % of autistic subjects. Many of the genes implicated encode proteins for synaptic formation, transcriptional regulation and chromatin-remodelling pathways …”
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Endostatin's emerging roles in angiogenesis, lymphangiogenesis, disease, and clinical applications von Walia, Amit, Yang, Jessica F., Huang, Yu-hui, Rosenblatt, Mark I., Chang, Jin-Hong, Azar, Dimitri T.

“… Angiogenesis is the process of neovascularization from pre-existing vasculature and is involved in various physiological and pathological processes. Inhibitors …”
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Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome von Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta

“… In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as a model for investigating the …”
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Identification of genes subject to positive selection in uropathogenic strains of Escherichia coli: a comparative genomics approach von Chen, Swaine L, Hung, Chia-Seui, Xu, Jian, Reigstad, Christopher S, Magrini, Vincent, Sabo, Aniko, Blasiar, Darin, Bieri, Tamberlyn, Meyer, Rekha R, Ozersky, Philip, Armstrong, Jon R, Fulton, Robert S, Latreille, J Phillip, Spieth, John, Hooton, Thomas M, Mardis, Elaine R, Hultgren, Scott J, Gordon, Jeffrey I

“… Escherichia coli is a model laboratory bacterium, a species that is widely distributed in the environment, as well as a mutualist and pathogen in its human …”
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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations von Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y., Choi, Murim, Tatlı, Burak, Yalnızoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bakırcıoğlu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Yılmaz, Sanem, Dinçer, Alp, Johnson, Michele H., Bronen, Richard A., Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalçınkaya, Cengiz, Kumandaş, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad, Lifton, Richard P., State, Matthew W., Günel, Murat

“… Gene linked to brain malformation The identification of genetic loci linked to abnormal cortical development is complicated by genetic heterogeneity, small …”
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Analysis of the Upper Respiratory Tract Microbiotas as the Source of the Lung and Gastric Microbiotas in Healthy Individuals von Bassis, Christine M., Erb-Downward, John R., Dickson, Robert P., Freeman, Christine M., Schmidt, Thomas M., Young, Vincent B., Beck, James M., Curtis, Jeffrey L., Huffnagle, Gary B.

“… No studies have examined the relationships between bacterial communities along sites of the upper aerodigestive tract of an individual subject …”
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BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis von Canver, Matthew C., Smith, Elenoe C., Sher, Falak, Pinello, Luca, Sanjana, Neville E., Shalem, Ophir, Chen, Diane D., Schupp, Patrick G., Vinjamur, Divya S., Garcia, Sara P., Luc, Sidinh, Kurita, Ryo, Nakamura, Yukio, Fujiwara, Yuko, Maeda, Takahiro, Yuan, Guo-Cheng, Zhang, Feng, Orkin, Stuart H., Bauer, Daniel E.

“… their requirement in the native genomic context. Previously, we identified an erythroid enhancer of human BCL11A , subject to common genetic variation associated with the fetal haemoglobin level, the mouse orthologue of which is …”
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