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Found 34923 matches. Displaying 81-90
Pamula MC
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High-resolution imaging reveals how the spindle midzone impacts

JOURNAL OF CELL BIOLOGY 2019 AUG; 218(8):2529-2544
In the spindle midzone, microtubules from opposite half-spindles form
Libis V
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Uncovering the biosynthetic potential of rare metagenomic DNA using

NATURE COMMUNICATIONS 2019 AUG 26; 10(?):? Article 3848
Sequencing of DNA extracted from environmental samples can provide key
Lopez-Hernandez I
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Skewed X-inactivation in a Female Carrier with X-linked Chronic

Chronic granulomatous disease (CGD) is a primary immunodeficiency caused
Khourieh J
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A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by

Heterozygous in-frame mutations in coding regions of human STAT3
Brunner PM, He H, Pavel AB, Czarnowicki T, Lefferdink R, Erickson T, Canter T, Puar N, Rangel SM, Malik K, Estrada Y, Krueger JG, Guttman-Yassky E, Paller AS
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The blood proteomic signature of early-onset pediatric atopic dermatitis shows systemic inflammation and is distinct from adult long-standing disease

Background: Despite increasing evidence that adults with long-standing atopic dermatitis (AD) have systemic inflammation, little is known about systemic inflammation in recent-onset early pediatric AD. Objective: To analyze blood inflammatory proteins of early pediatric AD. Methods: Using high-throughput proteomics (proximity extension assay), we assessed 257 inflammatory and cardiovascular risk proteins in the blood of 30 children with moderate to severe AD younger than 5 years of age (within 6 months of onset) compared with age-matched pediatric control individuals and adult patients with AD. Results: In pediatric AD blood, T helper (Th) type 2 (CCL13, CCL22) and Th17 (peptidase inhibitor-3/elafin) markers were increased, together with markers of tissue remodeling (matrix metalloproteinases 3/9/10, urokinase receptor), endothelial activation (E-selectin), T-cell activation (IL2RA), neutrophil activation (myeloperoxidase), lipid metabolism (FABP4), and growth factors (FGF21, transforming growth factor-alpha). Total numbers of dysregulated proteins were smaller in pediatric AD (n = 22) than in adult AD (n = 61). Clinical severity scores were positively correlated with receptors for interleukins 33 and 36 and inversely correlated with some Th1 markers (interferon gamma, CXCL11). Limitations: Different baseline expression levels in healthy pediatric vs adult samples. Conclusions: Within months of pediatric AD onset, systemic immune activation is present, with Th2/Th17 skewing but otherwise different proteomic patterns from adult AD. Future correlation of proteomic patterns with disease course, comorbidity development, and drug response may yield predictive biomarkers.
Witt E
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Testis single-cell RNA-seq reveals the dynamics of de novo gene

ELIFE 2019 AUG 16; 8(?):? Article e47138
The testis is a peculiar tissue in many respects. It shows patterns of
Cao CK, Oswald AB, Fabella BA, Ren YS, Rodriguiz R, Trainor G, Greenblatt MB, Hilton MJ, Pitt GS
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The Ca(v)1.2 L-type calcium channel regulates bone homeostasis in the middle and inner ear

BONE 2019 AUG; 125(?):160-168
Bone remodeling of the auditory ossicles and the otic capsule is highly restricted and tightly controlled by the osteoprotegerin (OPG)/receptor activator of nuclear factor kappa-B ligand (RANKL)/receptor activator of nuclear factor kappa-B (RANK) system. In these bony structures, a pathological decrease in OPG expression stimulates osteoclast differentiation and excessive resorption followed by accrual of sclerotic bone, ultimately resulting in the development of otosclerosis, a leading cause of deafness in adults. Understanding the signaling pathways involved in maintaining OPG expression in the ear would shed light on the pathophysiology of otosclerosis and other ear bone-related diseases. We and others previously demonstrated that Ca2+ signaling through the L-type Ca(v)1.2 Ca2+ channel positively regulates OPG expression and secretion in long bone osteoblasts and their precursor cells in vitro and in vivo. Whether Cav1.2 regulates OPG expression in ear bones has not been investigated. We drove expression of a gain-of-function Ca(v)1.2 mutant channel (Ca(v)1.2(TS)) using Col2a1-Cre, which we found to target osteochondral/osteoblast progenitors in the auditory ossicles and the otic capsule. Col2a1-Cre;Ca-v1.2(TS) mice displayed osteopetrosis of these bones shown by mu CT 3D reconstruction, histological analysis, and lack of bone sculpting, findings similar to phenotypes seen in mice with an osteoclast defect. Consistent with those observations, we found that Co/2a1-Cre;Ca(v)1.2(TS) mutant mice showed reduced osteoclasts in the otic capsule, upregulated mRNA expression of Opg and Opg/Rankl ratio, and increased mRNA expression of osteoblast differentiation marker genes in the otic capsule, suggesting both an anti-catabolic and anabolic effect of Ca(v)1.2(TS) mutant channel contributed to the observed morphological changes of the ear bones. Further, we found that Col2a1-Cre;Ca(v)1.2(TS) mice experienced hearing loss and displayed defects of body balance in behavior tests, confirming that the Ca(v)1.2-dependent Ca2+ influx affects bone structure in the ear and consequent hearing and vestibular functions. Together, these data support our hypothesis that Ca2+ (i)nflux through Ca(v)1.2(TS) promotes OPG expression from osteoblasts, thereby affecting bone modeling/remodeling in the auditory ossicles and the otic capsule. These data provide insight into potential pathological mechanisms underlying perturbed OPG expression and otosclerosis.
Dunn AD
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Signaling Properties of Structurally Diverse Kappa Opioid Receptor

Biased ligands preferentially activate certain signaling pathways
Huang YC
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Gain-of-function mutations in the UNC-2/CaV2 alpha channel lead to

ELIFE 2019 AUG 5; 8(?):? Article e45905
Mutations in pre-synaptic voltage-gated calcium channels can lead to
Frank MO
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Sequencing and curation strategies for identifying candidate

BMC MEDICAL GENOMICS 2019 AUG 2; 12(1):? Article 114