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Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene

22.03.2015 | Megan Beck, Jess F. Peterson, Juliann McConnell, Marianne McGuire, Miya Asato, Joseph E. Losee, Urvashi Surti, Sunee ..., American Journal of Medical Genetics Part A, 2015

Deletions spanning the MN1 gene (22q12.1) have recently been proposed as playing a role in craniofacial abnormalities that include cleft palate, as mouse studies have demonstrated that Mn1 haploinsufficiency results in skull abnormalities and secondary cleft palate. We report on four patients ...

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Diverse impact of neuronal activity at θ frequency on hippocampal long‐term plasticity

18.03.2015 | Tomasz Wójtowicz, Jerzy W. Mozrzymas, Journal of Neuroscience Research, 2015

Brain oscillatory activity is considered an essential aspect of brain function, and its frequency can vary from 200 Hz, depending on the brain states and projection. Episodes of rhythmic activity accompany hippocampus‐dependent learning and memory in vivo. Therefore, long‐term synaptic ...

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Sex differences and effects of prenatal exposure to excess testosterone on ventral tegmental area dopamine neurons in adult sheep

18.03.2015 | Erinna C. Z. Brown, Casey J. Steadman, Theresa M. Lee, Vasantha Padmanabhan, Michael N. Lehman, Lique M. Coolen, European Journal of Neuroscience, 2015

Abstract Prenatal testosterone (T) excess in sheep results in a wide array of reproductive neuroendocrine deficits and alterations in motivated behavior. The ventral tegmental area (VTA) plays a critical role in reward and motivated behaviors and is hypothesised to be targeted by prenatal T. ...

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Acetylcholine Suppresses Ventricular Arrhythmias and Improves Conduction and Connexin‐43 Properties During Myocardial Ischemia in Isolated Rabbit Hearts

17.03.2015 | TAKESHI AIBA, TAKASHI NODA, ICHIRO HIDAKA, MASASHI INAGAKI, RAJESH KATARE, MOTONORI ANDO, KENJI SUNAGAWA, TAKAYUKI S ..., Journal of Cardiovascular Electrophysiology, 2015

Abstract Supplemental Methods Immunoblotting and Immunohistochemistry Pulverized frozen left ventricle samples were suspended in 40 vol of ice‐cold 10% trichloroacetic acid and homogenized with a tissue homogenizer (2 bursts, 30 s each).18 Homogenates were centrifuged at 10,000 g for ...

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Dynamic 3D culture: Models of chondrogenesis and endochondral ossification

16.03.2015 | Nicola C. Foster, James R. Henstock, Yvonne Reinwald, Alicia J. El Haj, Birth Defects Research Part C: Embryo Today: Reviews, 2015

The formation of cartilage from stem cells during development is a complex process which is regulated by both local growth factors and biomechanical cues, and results in the differentiation of chondrocytes into a range of subtypes in specific regions of the tissue. In fetal development cartilage ...

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Novel mutation in the BMPR1B gene (R486L) in a polish family and further delineation of the phenotypic features of BMPR1B‐Related brachydactyly

16.03.2015 | Magdalena Badura‐Stronka, Dariusz Mróz, Peter Beighton, Sebastian Łukawiecki, Katarzyna Wicher, Anna Latos‐Bieleńska ..., Birth Defects Research Part A: Clinical and Molecular Teratology, 2015

Background Lehmann et al., [2003, 2006] have documented two different substitutions at position 486 of the BMPR1B gene which resulted in a phenotype of brachydactyly A2 [MIM 112600] or brachydactyly C with symphalangism [MIM 113100]. Methods In this article we report a family of Polish ...

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Genetic Events That Limit the Efficacy of MEK and RTK Inhibitor Therapies in a Mouse Model of KRAS-Driven Pancreatic Cancer

15.03.2015 | Piergiorgio Pettazzoni; Andrea Viale; Parantu Shah; Alessandro Carugo; Haoqiang Ying; Huamin Wang; Giannicola Genove ..., Cancer Research, 2015

Mutated KRAS (KRAS*) is a fundamental driver in the majority of pancreatic ductal adenocarcinomas (PDAC). Using an inducible mouse model of KRAS*-driven PDAC, we compared KRAS* genetic extinction with pharmacologic inhibition of MEK1 in tumor spheres and in vivo. KRAS* ablation blocked ...

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Coordinate Loss of MAP3K7 and CHD1 Promotes Aggressive Prostate Cancer

15.03.2015 | Lindsey Ulkus Rodrigues; Leah Rider; Cera Nieto; Lina Romero; Anis Karimpour-Fard; Massimo Loda; M. Scott Lucia; Min ..., Cancer Research, 2015

Prostate cancer subtypes are poorly defined and functional validation of drivers of ETS rearrangement–negative prostate cancer has not been conducted. Here, we identified an ETS− subtype of aggressive prostate cancer (ERG−MAP3K7delCHD1del) and used a novel developmental model and a cell line ...

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Low‐dose TNF augments fracture healing in normal and osteoporotic bone by up‐regulating the innate immune response

14.03.2015 | James K Chan, Graeme E Glass, Adel Ersek, Andrew Freidin, Garry A Williams, Kate Gowers, Ana I Espirito Santo, Rosem ..., EMBO Molecular Medicine, 2015

Abstract The mechanism by which trauma initiates healing remains unclear. Precise understanding of these events may define interventions for accelerating healing that could be translated to the clinical arena. We previously reported that addition of low‐dose recombinant human TNF (rhTNF) at ...

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Meloxicam inhibits fipronil‐induced apoptosis via modulation of the oxidative stress and inflammatory response in SH‐SY5Y cells

13.03.2015 | Jae Hyeon Park, Youn Sun Park, Je‐Bong Lee, Kyung‐Hun Park, Min‐kyoung Paik, Mihye Jeong, Hyun Chul Koh, Journal of Applied Toxicology, 2015

ABSTRACT Oxidative stress and inflammatory responses have been identified as key elements of neuronal cell apoptosis. In this study, we investigated the mechanisms by which inflammatory responses contribute to apoptosis in human neuroblastoma SH‐SY5Y cells treated with fipronil (FPN). Based on ...

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