Results 71 to 80 of about 30,324 (227)

Hidden breakpoints in genome alignments

, 2012
During the course of evolution, an organism's genome can undergo changes that affect the large-scale structure of the genome. These changes include gene gain, loss, duplication, chromosome fusion, fission, and rearrangement.
A. Rambaut, A.C.E. Darling, A.E. Darling, A.L. Delcher, C.D. Greenman, D. Medini, E. Tannier, G. Fudenberg, M. Blanchette, M. Nowacki, M.A. Umbarger, S. De, S. Schwartz, S.V. Angiuoli, V. Kolmogorov   +14 more
core   +1 more source

Genocopy of EVI1‐AML with paraneoplastic diabetes insipidus: PRDM16 overexpression by t(1;2)(p36;p21) and enhancer hijacking

British Journal of Haematology, EarlyView.
Summary Diabetes insipidus (DI) in patients with acute myeloid leukaemia (AML) and chromosome 3q alterations (EVI1/PRDM3/MECOM overexpression) constitutes a poorly understood paraneoplasia. A 44‐year‐old patient presented with clinical and morphological features of this syndrome but, surprisingly, disclosed the rare translocation t(1;2)(p36;p21), with ...
Julian List, Etienne Sollier, Fiona Brown‐Burke, Katherine Kelly, Dietmar Pfeifer, Valeria Shlyakhto, Kristina Maas‐Bauer, Milena Pantic, Christoph Plass, Michael Lübbert   +9 more
wiley   +1 more source

Cosmic Rays: The Second Knee and Beyond

, 2007
We conduct a review of experimental results on Ultra-High Energy Cosmic Rays (UHECR's) including measurements of the features of the spectrum, the composition of the primary particle flux and the search for anisotropy in event arrival direction.
Abbasi R U, Abbasi R U, Abbasi R U, Afanasiev B N Nagano M, AGASA Collaboration, Ave M, Berezinsky V S, Bergman D R, Bergman D R, Biermann P L Ahn E J G M T Stanev T, Bonifazi C, Bossa M, CERN, Douglas R Bergman, Egorova V P, Egorova V P, Farrar G R Piran T, Hayashida N, Hayashida N, Hayashida N, Heck D, Hess V F, Hinton J A, Ivanov A A, John W Belz, Kalmykov N N, Knurenko S P, Lawrence M A, Mantsch P, Medina-Tanco G A Watson A A, Mikhailov A A, Nagano M, Pierog T Warner K, Pierre Auger Collaboration, Pravdin M I, Reil K, Sakaki N, Sciutto S J, Shinozaki K Teshima M, Sinnis G, Sokolsky P, Stokes B T, TA Collaboration, Takeda M, Teshima M, Teshima M, Tinyakov P G, Véron-Cetty M P Véron P, Winn M M, Winn M M, Yao W M, Yoshida S, Zatsepin G T, Zatsepin G T   +53 more
core   +1 more source

Terrain descriptors for landscape synthesis, analysis and simulation

Computer Graphics Forum, EarlyView.
Abstract Synthetic landscape generation is an active research area within Computer Graphics. Algorithms for terrain synthesis and ecosystem simulations often rely on simple descriptors such as slope, light accessibility, and drainage area. Typically, the results are assessed from a perceptual standpoint, focusing primarily on visual plausibility. Other
O. Argudo, E. Guérin, H. Schott, E. Galin   +3 more
wiley   +1 more source

The role of financial investors in successful family‐firm takeovers: A configurational approach

European Management Review, EarlyView.
Abstract Family firms increasingly opt for an external succession route and sell shares to financial investors. Yet, not all family‐firm takeovers by financial investors are financially successful. To date, however, we lack a nuanced understanding of the conditions under which financial investors' family‐firm takeovers will succeed financially.
Nadine Kammerlander, Elias Kurta, Anne Heider   +2 more
wiley   +1 more source

Genomic and Functional Map of the Chromosome 14 t(12;14) Breakpoint Cluster Region in Uterine Leiomyoma

Genomics, 1998
A translocation involving chromosomes 12 and 14 [t(12;14)(q15;24.1)] is commonly seen in benign smooth muscle tumor as uterine leiomyoma (UL). A contig of P1-derived artificial chromosome and bacterial artificial chromosome clones on chromosome 14, encompassing a t(12;14) breakpoint cluster region (BCR) in UL, was generated principally using the ...
Bindu Bhugra, Roy A. Lynch, Alan T. Bankier, Alan Buckler, Paul H. Dear, Urvashi Surti, Anil G. Menon, Michael B. Piper, James H. Liu   +8 more
openaire   +3 more sources

Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy

Epilepsia, EarlyView.
Abstract Objective SYNGAP1‐related disorders are common neurodevelopmental conditions characterized by autism spectrum disorder, developmental delay, intellectual disability, and a range of generalized seizure types. Disease‐causing variants in SYNGAP1 typically occur de novo. This study aims to characterize inherited cases of SYNGAP1‐related disorders.
Alicia G. Harrison, Jan H. Magielski, Ian McSalley, Shiva Ganesan, Anna J. Prentice, Kristin G. Cunningham, Samuel R. Pierce, Michael J. Boland, Benjamin L. Prosser, Ingo Helbig, Jillian L. McKee   +10 more
wiley   +1 more source

Assessing the Number of Criteria in GIS‐Based Multicriteria Evaluation: A Machine Learning Approach

Geographical Analysis, EarlyView.
ABSTRACT The analytical hierarchy process (AHP) is a widely used approach and a decision rule to derive criteria weights in geographic information system‐based multi‐criteria evaluation (GIS‐MCE). However, one limitation of the AHP method is that it constrains the number of criteria that can be meaningfully weighted to typically seven to nine criteria.
Lan Qing Zhao, Suzana Dragićević, Shivanand Balram, Liliana Perez   +3 more
wiley   +1 more source

Liquid Biopsy for Enhanced Specificity in Identifying Somatic Mutations in Aggressive Non‐Hodgkin Large B‐Cell Lymphoma: A Comparative Study of Cell‐Free DNA and Formalin‐Fixed Paraffin‐Embedded Tissue

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Formalin‐fixed paraffin‐embedded (FFPE) tumor biopsy is the current mainstay of genotyping, but is limited by its invasiveness and tumor heterogeneity. Plasma cell‐free DNA (cfDNA) constitutes a minimally invasive alternative that may better capture tumor‐derived profiles from circulating tumor DNA (ctDNA). This study compares the
Gayaththri Vimalathas, Oriane Cédile, Marie Louise Grube Kjeldsen, Mads Thomassen, Michael Boe Møller, Charlotte Guldborg Nyvold, Marcus Høy Hansen, Thomas Stauffer Larsen   +7 more
wiley   +1 more source

PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis

Journal of Diabetes Investigation, EarlyView.
We present a report on SHORT syndrome caused by PIK3R1 mutations, including findings from in silico analysis. Our results demonstrate that these mutations impair the ability of p85α to interact with phosphopeptides. ABSTRACT Aims/Introduction Phosphatidylinositol 3‐kinase (PI3K) plays a key role in insulin signaling, and mutations in PIK3R1, which ...
Tomofumi Takayoshi, Yushi Hirota, Aki Sugano, Kenji Sugawara, Takehito Takeuchi, Mika Ohta, Kai Yoshimura, Seiji Nishikage, Akane Yamamoto, Yu Mimura, Shinji Higuchi, Jun Mori, Rie Kawakita, Tohru Yorifuji, Yutaka Takaoka, Wataru Ogawa   +15 more
wiley   +1 more source