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Six1 controls patterning of the mouse otic vesicle

H. Ozaki
2004 Development  
In this study, we established Six1-deficient mice and found that development of the inner ear, nose, thymus, kidney and skeletal muscle was severely affected.  ...  of the Six family homeobox genes, which function as components of the Pax-Six-Eya-Dach gene network to control organ development.  ...  , nose, thymus, kidneys and skeletal muscles in the Six1-deficient mice.  ... 
doi:10.1242/dev.00943 pmid:14695375 fatcat:52xfsfy4k5bq3a2pbhnpaggeb4

Voice2Mesh: Cross-Modal 3D Face Model Generation from Voices [article]

Cho-Ying Wu, Ke Xu, Chin-Cheng Hsu, Ulrich Neumann
2021 arXiv   pre-print
Especially we demonstrate how unsupervised learning is possible in the absence of a direct voice-to-3D-face dataset under limited availability of 3D face scans when the model is equipped with knowledge  ...  This work focuses on the analysis that whether 3D face models can be learned from only the speech inputs of speakers. Previous works for cross-modal face synthesis study image generation from voices.  ...  The first graphic contains our Voice2Mesh supervised learning framework with φv, Ds, De.  ... 
arXiv:2104.10299v1 fatcat:d5y6yjioxvgihdlmxhh3jroxce

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

Sonia Paco, Teresa Casserras, Maria Angels Rodríguez, Cristina Jou, Montserrat Puigdelloses, Carlos I. Ortez, Jordi Diaz-Manera, Eduardo Gallardo, Jaume Colomer, Andrés Nascimento, Susana G. Kalko, Cecilia Jimenez-Mallebrera (+1 others)
2015 PLoS ONE  
Collagen VI related myopathies encompass a range of phenotypes with involvement of skeletal muscle, skin and other connective tissues.  ...  Collagen VI in skeletal muscle and skin is produced by fibroblasts.  ...  We are grateful to the "Biobanc de l'Hospital Infantil Sant Joan de Déu per a la Investigació" integrated in the Spanish Biobank Network of ISCIII for the sample and data procurement.  ... 
doi:10.1371/journal.pone.0145107 pmid:26670220 pmcid:PMC4686057 fatcat:phbsrlnewnhflbz54sbofkc5ma

Skeletal muscle TFEB signaling promotes central nervous system function and reduces neuroinflammation during aging and neurodegenerative disease

Ian Matthews, Allison Birnbaum, Anastasia Gromova, Amy W. Huang, Kailin Liu, Eleanor A. Liu, Kristen Coutinho, Megan McGraw, Dalton C. Patterson, Macy T. Banks, Amber C. Nobles, Nhat Nguyen (+9 others)
2023 Cell Reports  
We discovered that the resulting geroprotective effects in skeletal muscle reduce neuroinflammation and the accumulation of tau-associated pathological hallmarks in a mouse model of tauopathy.  ...  Here, we report the generation of a transgenic mouse with enhanced skeletal muscle lysosomal and mitochondrial function via targeted overexpression of transcription factor E-B (TFEB).  ...  Number of differentially expressed (DE) genes are shown above each category. Boxes highlight categories associated with neural function. Figure 7 . 7 Figure 7.  ... 
doi:10.1016/j.celrep.2023.113436 pmid:37952157 pmcid:PMC10841857 fatcat:z55wh2b6uzbajorkhnpdh4dqom

Proinsulin protects against age-related cognitive loss through anti-inflammatory convergent pathways

Rubén Corpas, Alberto M. Hernández-Pinto, David Porquet, Catalina Hernández-Sánchez, Fatima Bosch, Arantxa Ortega-Aznar, Francesc Comellas, Enrique J. de la Rosa, Coral Sanfeliu
2017 Neuropharmacology  
Furthermore, the decrease of astrocyte reactivity was a central effect, as demonstrated in the connectome network of changes induced by proinsulin.  ...  Furthermore, the decrease of astrocyte reactivity was a central effect, as demonstrated in the connectome network of changes induced by proinsulin.  ...  Network analysis performed separately with SAMR1 and SAMP8 mice.  ... 
doi:10.1016/j.neuropharm.2017.06.014 pmid:28624504 fatcat:bzkja5ubkzeizdxeqgvl2qurxu

Genetic syndromes screening by facial recognition technology: VGG-16 screening model construction and evaluation

Dian Hong, Ying-Yi Zheng, Ying Xin, Ling Sun, Hang Yang, Min-Yin Lin, Cong Liu, Bo-Ning Li, Zhi-Wei Zhang, Jian Zhuang, Ming-Yang Qian, Shu-Shui Wang
2021 Orphanet Journal of Rare Diseases  
This study constructed an automatic facial recognition model for the identification of children with GSs.  ...  The VGG-16 network (named after its proposal lab, Visual Geometry Group from Oxford University) was pretrained by transfer learning methods, and a facial recognition model based on the VGG-16 architecture  ...  The MTCNN contained an image pyramid and a three-stage cascaded framework: proposal network, refine network and output network, finally generated a facial image (224 × 224 × 3 pixels) with five facial  ... 
doi:10.1186/s13023-021-01979-y pmid:34344442 pmcid:PMC8336249 fatcat:m6pthgt2frctlewzmm2vmmbsem

Murine Motion Behavior Recognition Based on DeepLabCut and Convolutional Long Short-Term Memory Network

Ruiqing Liu, Juncai Zhu, Xiaoping Rao
2022 Symmetry  
The algorithm first uses the improved DeepLabCut keypoint detection algorithm to locate the nose, left ear, right ear, and tail root of the mouse, and then uses the ConvLSTM network to extract spatiotemporal  ...  To solve the problem whereby traditional behavior recognition methods only model behavioral changes in mice over time or space, we propose a symmetrical algorithm that can capture spatiotemporal information  ...  Many studies have modeled the time-dependent changes in the interrelationships between skeletal points to identify animal behaviors. Wang et al.  ... 
doi:10.3390/sym14071340 fatcat:zdo4qmb3ordrbbi3tojaxjnqgi

Didelphis albiventris: an overview of unprecedented transcriptome sequencing of the white-eared opossum

Íria Gabriela Dias dos Santos, Tiago Antônio de Oliveira Mendes, Gerluza Aparecida Borges Silva, Amanda Maria Sena Reis, Cláudia Barros Monteiro-Vitorello, Patricia Dayane Carvalho Schaker, Roberto Hirochi Herai, André Brait Carneiro Fabotti, Luiz Lehmann Coutinho, Erika Cristina Jorge
2019 BMC Genomics  
The de novo assembly of these transcripts generated 85,338 transcripts.  ...  The elucidation of opossum transcriptomes provides an out-group for better understanding the distinct characteristics associated with the evolution of mammalian species.  ...  Ferreira, Marcos A. de Sá, José C. Nogueira and Aristóteles G. Neto; Fabiano Pais, PhD, and Rodrigo Kato, PhD; and the laboratory technicians Francisco A. P.  ... 
doi:10.1186/s12864-019-6240-x pmid:31730444 pmcid:PMC6858782 fatcat:cx4asen2ibhd5gpxqrekk54jje

Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies

Chiara Parodi, Elisabetta Di Fede, Angela Peron, Ilaria Viganò, Paolo Grazioli, Silvia Castiglioni, Richard H. Finnell, Cristina Gervasini, Aglaia Vignoli, Valentina Massa
2021 Frontiers in Cell and Developmental Biology  
, intellectual disability as well as autism spectrum disorder, together with a distinctive facial appearance.  ...  Prenatal exposure to valproate (VPA), an antiepileptic drug, has been associated with fetal valproate spectrum disorders (FVSD), a clinical condition including congenital malformations, developmental delay  ...  skeletal anomalies.  ... 
doi:10.3389/fcell.2021.654467 pmid:33959609 pmcid:PMC8093873 fatcat:d7lbo7t5bnhybeqqm5mwt6to6q

Chondrodysplasias and TGFβ signaling

Carine Le Goff, Valerie Cormier-Daire
2015 BoneKEy Reports  
Cultured dermal fibroblasts from SGS patients with SKI mutations showed enhanced activation of TGF-beta signaling cascades compared with control cells.  ...  Mouse models with inactivation of genes encoding the receptors TGFBR1 and R2 have also been generated.  ... 
doi:10.1038/bonekey.2015.9 pmid:25798233 pmcid:PMC4357213 fatcat:eml2xjuw2vfc3ejppo4lbrqkei

Genome-Wide Gene Expression Analysis Shows AKAP13-Mediated PKD1 Signaling Regulates the Transcriptional Response to Cardiac Hypertrophy

Keven R. Johnson, Jessie Nicodemus-Johnson, Mathew J. Spindler, Graeme K. Carnegie, Sudhiranjan Gupta
2015 PLoS ONE  
Microarray analysis showed that AKAP13-ΔPKD1 mice broadly failed to exhibit the transcriptional profile normally associated with compensatory cardiac hypertrophy following trans-aortic constriction (TAC  ...  We used an expression microarray to identify the global transcriptional response in the hearts of wild-type mice expressing the native form of AKAP13 compared to a gene-trap mouse model expressing a truncated  ...  A plane of anesthesia was then regulated by delivery of 1% isoflurane administered through a nose cone with 100% oxygen.  ... 
doi:10.1371/journal.pone.0132474 pmid:26192751 pmcid:PMC4508115 fatcat:2m4iakrgqrcepn2nocjtbraccu

DNA methylome signatures as epigenetic biomarkers of hexanal associated with lung toxicity

Yoon Cho, Mi-Kyung Song, Jae-Chun Ryu
2021 PeerJ  
These genes were involved in diverse biological processes such as neuroactive ligand-receptor interaction, protein kinase cascade, and intracellular signaling cascade associated with pulmonary toxicity  ...  Methods Based on DNA methylation profiling in gene promoter regions, we identified hexanal-characterized methylated sites and target genes using an unpaired t-test with a fold-change cutoff of ≥ 3.0 and  ...  ., Wilmington, DE).  ... 
doi:10.7717/peerj.10779 pmid:33604181 pmcid:PMC7868067 fatcat:t3vamjxuyvd5poklc6asqndlje

Survey on Emotional Body Gesture Recognition

Fatemeh Noroozi, Dorota Kaminska, Ciprian Corneanu, Tomasz Sapinski, Sergio Escalera, Gholamreza Anbarjafari
2019 IEEE Transactions on Affective Computing  
Noroozi was with the basis of what we see rather than what we hear [2] .  ...  We also discuss multi-modal approaches that combine speech or face with body gestures for improved emotion recognition.  ...  One way to alleviate this problem was to use several networks in a cascaded fashion.  ... 
doi:10.1109/taffc.2018.2874986 fatcat:zjnr2w4orje7vj2bhmia4f5qki

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Zeynep Coban-Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W.M. van Bon, Alper Gezdirici, Elif Yilmaz Gulec, Francis Ramond, Renaud Touraine, Julien Thevenon (+23 others)
2018 American Journal of Human Genetics  
In total, four families with variants in FZD2 were identified as well as three individuals from two families with biallelic variants in NXN that co-segregate with the phenotype.  ...  Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways.  ...  cascade during human development.  ... 
doi:10.1016/j.ajhg.2017.10.002 pmid:29276006 pmcid:PMC5777383 fatcat:bgyfqqykubea3dtedfshael5ru

Molecular Modeling of Neurokinin B and Neurokinin-3 Receptor Complex

Anjali D. Ganjiwale, Gita Subbarao, Sudha M. Cowsik
2011 Biophysical Journal  
A mouse model of partial Ca V b 1 knockdown is used to determine the role of Ca V b 1a in skeletal muscle regeneration following injury in vivo.  ...  Tubular aggregates (TAs), ordered arrays of elongated sarcoplasmic reticulum (SR) membranes, are present in skeletal muscle fibers from patients with various myopathies.  ... 
doi:10.1016/j.bpj.2010.12.1195 fatcat:a7c2xvd4encqphgqoqdbpsziii
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