Hasil untuk "Maps"

Yin Shen, Feng Yue, David F. McCleary et al.

R. Roskoski

G. Cooper, Bradley P. Coe, S. Girirajan et al.

To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. We estimate that ∼14.2% of disease in these children is caused by CNVs >400 kb. We observed a greater enrichment of CNVs in individuals with craniofacial anomalies and cardiovascular defects compared to those with epilepsy or autism. We identified 59 pathogenic CNVs, including 14 new or previously weakly supported candidates, refined the critical interval for several genomic disorders, such as the 17q21.31 microdeletion syndrome, and identified 940 candidate dosage-sensitive genes. We also developed methods to opportunistically discover small, disruptive CNVs within the large and growing diagnostic array datasets. This evolving CNV morbidity map, combined with exome and genome sequencing, will be critical for deciphering the genetic basis of developmental delay, intellectual disability and autism spectrum disorders.

M. Cummins, P. Newman

R. Abell, M. Thieme, C. Revenga et al.

F. Nachtergaele, H. Velthuizen, L. Verelst et al.

H. Zebker, J. Villasenor

H. Ichijo, E. Nishida, K. Irie et al.

L. Giot, J. Bader, Cory R. Brouwer et al.

W. Barth

J. Raingeaud, Shashi Gupta, J. S. Rogers et al.

Protein kinases activated by dual phosphorylation on Tyr and Thr (MAP kinases) can be grouped into two major classes: ERK and JNK. The ERK group regulates multiple targets in response to growth factors via a Ras-dependent mechanism. In contrast, JNK activates the transcription factor c-Jun in response to pro-inflammatory cytokines and exposure of cells to several forms of environmental stress. Recently, a novel mammalian protein kinase (p38) that shares sequence similarity with mitogen-activated protein (MAP) kinases was identified. Here, we demonstrate that p38, like JNK, is activated by treatment of cells with pro-inflammatory cytokines and environmental stress. The mechanism of p38 activation is mediated by dual phosphorylation on Thr-180 and Tyr-182. Immunofluorescence microscopy demonstrated that p38 MAP kinase is present in both the nucleus and cytoplasm of activated cells. Together, these data establish that p38 is a member of the mammalian MAP kinase group.

Jiahuai Han, J.-D. Lee, L. Bibbs et al.

John O'Keefe, Lynn Nadel

A. Tong, G. Lesage, Gary D Bader et al.

J. Omernik

M. A. Fabian, W. Biggs, D. K. Treiber et al.

F. Gustafsson, F. Gunnarsson, N. Bergman et al.

A. Cuenda, J. Rouse, Y. N. Doza et al.

Andrei Linde

G. Christie, Neil Fendley, James Wilson et al.

We present a new dataset, Functional Map of the World (fMoW), which aims to inspire the development of machine learning models capable of predicting the functional purpose of buildings and land use from temporal sequences of satellite images and a rich set of metadata features. The metadata provided with each image enables reasoning about location, time, sun angles, physical sizes, and other features when making predictions about objects in the image. Our dataset consists of over 1 million images from over 200 countries. For each image, we provide at least one bounding box annotation containing one of 63 categories, including a "false detection" category. We present an analysis of the dataset along with baseline approaches that reason about metadata and temporal views. Our data, code, and pretrained models have been made publicly available.