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Daisuke Higeta, Rie Yamaguchi, Takeshi Takagi, Gen Nishimura, Kiyoko Sameshima, Kayoko Saito, Takashi Minegishi
Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel SOX9 mutation (NM_000346.3: c.441delC, p.(Asn147Lysfs*36)). Radiological examination of the mother showed mild skeletal changes. Then, her somatic mosaicism of the mutation was ascertained...
March 14, 2018: Congenital Anomalies
Nimantana He, Zhenguo Dong, Dapeng Tai, Hao Liang, Xudong Guo, Ming Cang, Dongjun Liu
In our previous work, we isolated Arbas Cashmere goat hair follicle stem cells (gHFSCs) and explored the pluripotency. In this study, we investigated the expression and putative role of Sox9 in the gHFSCs. Immunofluorescence staining showed that Sox9 is predominantly expressed in the bulge region of the Arbas Cashmere goat hair follicle, and also positively expressed in both nucleus and cytoplasm of the gHFSCs. When the cells were transfected using Sox9-shRNA, cell growth slowed down and the expression of related genes decreased significantly, cell cycle was abnormal, while the expression of terminal differentiation marker loricrin was markedly increased; cells lost the typical morphology of HFSCs; the mRNA and protein expression of gHFSCs markers and stem cell pluripotency associated factors were all significantly decreased; the expression of Wnt signaling pathway genes LEF1, TCF1,c-Myc were significantly changed...
March 14, 2018: Cytotechnology
Mohamad Assi, Nicolas Dauguet, Patrick Jacquemin
The isolation of ribonucleic acid (RNA) suitable for gene expression studies is challenging in the pancreas, due to its high ribonuclease activity. This is even more complicated during pancreatitis, a condition associated with inflammation and fibrosis. Our aim was to implement a time-effective and reproducible protocol to isolate high quality RNA from specific pancreatic cell subtypes, in normal and inflammatory conditions. We used two genetically engineered mouse models (GEMM), Ela-CreER/YFP and Sox9-CreER/YFP, to isolate acinar and ductal cells, respectively...
2018: Frontiers in Physiology
Tanmoy Mondal, Prasanna Kumar Juvvuna, Agnete Kirkeby, Sanhita Mitra, Subazini Thankaswamy Kosalai, Larissa Traxler, Falk Hertwig, Sara Wernig-Zorc, Caroline Miranda, Lily Deland, Ruth Volland, Christoph Bartenhagen, Deniz Bartsch, Sashidhar Bandaru, Anne Engesser, Santhilal Subhash, Tommy Martinsson, Helena Carén, Levent M Akyürek, Leo Kurian, Meena Kanduri, Maite Huarte, Per Kogner, Matthias Fischer, Chandrasekhar Kanduri
Trait-associated loci often map to genomic regions encoding long noncoding RNAs (lncRNAs), but the role of these lncRNAs in disease etiology is largely unexplored. We show that a pair of sense/antisense lncRNA (6p22lncRNAs) encoded by CASC15 and NBAT1 located at the neuroblastoma (NB) risk-associated 6p22.3 locus are tumor suppressors and show reduced expression in high-risk NBs. Loss of functional synergy between 6p22lncRNAs results in an undifferentiated state that is maintained by a gene-regulatory network, including SOX9 located on 17q, a region frequently gained in NB...
March 12, 2018: Cancer Cell
Koushik K Das, Steffen Heeg, Jason R Pitarresi, Maximilian Reichert, Basil Bakir, Shigetsugu Takano, Janel L Kopp, Anja Wahl-Feuerstein, Philip Hicks, Maike Sander, Anil K Rustgi
BACKGROUND: The plasticity of pancreatic acinar cells to undergo acinar to ductal metaplasia (ADM) has been demonstrated to contribute to the regeneration of the pancreas in response to injury. Sox9 is critical for ductal cell fate and important in the formation of ADM, most likely in concert with a complex hierarchy of, as yet, not fully elucidated transcription factors. RESULTS: Utilizing a mouse model of acute pancreatitis and three dimensional organoid culture of primary pancreatic ductal cells, we herein characterize the Ets-transcription factor Etv5 as a pivotal regulator of ductal cell identity and ADM that acts upstream of Sox9 and is essential for Sox9 expression in ADM...
March 13, 2018: Developmental Dynamics: An Official Publication of the American Association of Anatomists
Maryam Bahrami, Ali Valiani, Noushin Amirpour, Mohammad Zamani Ra Rani, Batool Hashemibeni
Background: Nowadays, cartilage tissue engineering is the best candidate for regeneration of cartilage defects. This study evaluates the function of herbal extracts icariin (ICA), the major pharmacological constituent of herba Epimedium , compared with transforming growth factor β3 (TGFβ3) to prove its potential effect for cartilage tissue engineering. Materials and Methods: ICA, TGFβ3, and TGFβ3 + ICA were added fibrin-cell constructions derived from adipose tissue stem cells...
2018: Advanced Biomedical Research
Ruijun He, Baichuan Wang, Min Cui, Zekang Xiong, Hui Lin, Lei Zhao, Zhiliang Li, Zhe Wang, Shaun Peggrem, Zhidao Xia, Zengwu Shao
Background: Link protein N-terminal peptide (LPP) in extracellular matrix (ECM) of cartilage could induce synthesis of proteoglycans and collagen type II in cartilaginous cells. Cartilage stem/progenitor cells (CSPCs), the endogenous stem cells in cartilage, are important in cartilage degeneration and regeneration. We hypothesized that LPP could be a stimulator for stem cell-based cartilage regeneration by affecting biological behaviors of CSPC. Methods: CSPCs were isolated from rat knee cartilage...
2018: Stem Cells International
Ryan R Kerney, James Hanken, David C Blackburn
Direct-developing amphibians form limbs during early embryonic stages, as opposed to the later, often postembryonic limb formation of metamorphosing species. Limb patterning is dramatically altered in direct-developing frogs, but little attention has been given to direct-developing salamanders. We use expression patterns of two genes, sox9 and col2a1, to assess skeletal patterning during embryonic limb development in the direct-developing salamander Plethodon cinereus. Limb patterning in P. cinereus partially resembles that described in other urodele species, with early formation of digit II and a generally anterior-to-posterior formation of preaxial digits...
March 12, 2018: Evolution & Development
Carlo Annunziatella, Andrea M Chiariello, Andrea Esposito, Simona Bianco, Luca Fiorillo, Mario Nicodemi
In recent years interest has grown on the applications of polymer physics to model chromatin folding in order to try to make sense of the complexity of experimental data emerging from new technologies such as Hi-C or GAM, in a principled way. Here we review the methods employed to efficiently implement Molecular Dynamics computer simulations of polymer models, focusing in particular on the String&Binders Switch (SBS) model. The constant improvement of such methods and computer power is returning increasingly more accurate insights on the structure and molecular mechanisms underlying the spatial organization of chromosomes in the cell nucleus...
March 6, 2018: Methods: a Companion to Methods in Enzymology
Mohammad-Hossein Beigi, Atefeh Atefi, Hamid-Reza Ghanaei, Sheyda Labbaf, Fatemeh Ejeian, Mohammad-Hossein Nasr-Esfahani
In the current study the effect of superimposing platelet-rich plasma (PRP) on different culture mediums in a three-dimensional (3D) alginate scaffold encapsulated with adipose mesenchymal stem cells (ADSCs) for cartilage tissue repair is reported. The 3D alginate scaffolds with co-administration of PRP and/or chondrogenic supplements had a significant effect on the differentiation of ADSCs into mature cartilage, as assessed by evaluation of the expression of cartilage related markers of Sox9, Collagen II, Aggrecan and collagen and glycosaminoglycan assays...
March 9, 2018: Journal of Tissue Engineering and Regenerative Medicine
Ulrika A Hänninen, Riku Katainen, Tomas Tanskanen, Roosa-Maria Plaketti, Riku Laine, Jiri Hamberg, Ari Ristimäki, Eero Pukkala, Minna Taipale, Jukka-Pekka Mecklin, Linda M Forsström, Esa Pitkänen, Kimmo Palin, Niko Välimäki, Netta Mäkinen, Lauri A Aaltonen
Small bowel adenocarcinoma (SBA) is an aggressive disease with limited treatment options. Despite previous studies, its molecular genetic background has remained somewhat elusive. To comprehensively characterize the mutational landscape of this tumor type, and to identify possible targets of treatment, we conducted the first large exome sequencing study on a population-based set of SBA samples from all three small bowel segments. Archival tissue from 106 primary tumors with appropriate clinical information were available for exome sequencing from a patient series consisting of a majority of confirmed SBA cases diagnosed in Finland between the years 2003-2011...
March 9, 2018: PLoS Genetics
Yu Okamoto, Naoko Nishimura, Kazunari Matsuda, Deshani C Ranawakage, Yusuke Kamachi, Hisato Kondoh, Masanori Uchikawa
To elucidate the transcriptional regulation that underlies specification of the otic placode, we investigated the Sox3 downstream enhancer Otic1 of the chicken, the activity of which is restricted to and distributed across the entire otic placode. The 181-bp Otic1 enhancer sequence was dissected into a 68-bp minimal activating sequence, which exhibited dimer enhancer activity in the otic placode and cephalic neural crest, and this was further reduced to a 25-bp Otic1 core sequence, which also showed octamer enhancer activity in the same regions...
March 8, 2018: Development, Growth & Differentiation
Punashi Dutta, Joy Lincoln
PURPOSE OF REVIEW: This review aims to highlight the past and more current literature related to the multifaceted pathogenic programs that contribute to calcific aortic valve disease (CAVD) with a focus on the contribution of developmental programs. RECENT FINDINGS: Calcification of the aortic valve is an active process characterized by calcific nodule formation on the aortic surface leading to a less supple and more stiffened cusp, thereby limiting movement and causing clinical stenosis...
March 8, 2018: Current Cardiology Reports
Rafal P Piprek, Milena Damulewicz, Malgorzata Kloc, Jacek Z Kubiak
Development of the gonads is a complex process, which starts with a period of undifferentiated, bipotential gonads. During this period the expression of sex-determining genes is initiated. Sex determination is a process triggering differentiation of the gonads into the testis or ovary. Sex determination period is followed by sexual differentiation, i.e. appearance of the first testis- and ovary-specific features. In Xenopus laevis W-linked DM-domain gene (DM-W) had been described as a master determinant of the gonadal female sex...
March 2, 2018: Differentiation; Research in Biological Diversity
Yung-Ching Chen, King-Chuen Wu, Bu-Miin Huang, Edmund Cheung So, Yang-Kao Wang
Midazolam, a benzodiazepine derivative, is widely used for sedation and surgery. However, previous studies have demonstrated that Midazolam is associated with increased risks of congenital malformations, such as dwarfism, when used during early pregnancy. Recent studies have also demonstrated that Midazolam suppresses osteogenesis of mesenchymal stem cells (MSCs). Given that hypertrophic chondrocytes can differentiate into osteoblast and osteocytes and contribute to endochondral bone formation, the effect of Midazolam on chondrogenesis remains unclear...
March 7, 2018: Journal of Cellular and Molecular Medicine
Jing Xie, Demao Zhang, Yunfeng Lin, Quan Yuan, Xuedong Zhou
BACKGROUND: The meniscus plays an important role in knee joint diseases such as osteoarthritis (OA). Meniscal injuries can be accompanied by joint catabolic events initiated by inflammation, leading to articular cartilage destruction, but the cellular events responsible for intrinsic meniscal injury and the extracellular matrix changes necessary for meniscal degradation are not well known. PURPOSE: To explore the cellular and matrix-related changes of menisci based on a mouse OA model of anterior cruciate ligament transection (ACLT)...
March 1, 2018: American Journal of Sports Medicine
Takuya Tokunaga, Hitoshi Arimura, Hiroshi Mizuta, Yuji Hiraki, Chisa Shukunami
Tendons and ligaments are dense fibrous connective tissues mainly composed of type I collagen, aligned in highly ordered arrays along the axis of the tendon and ligament. The enthesis is defined as the attachment site of a tendon, ligament, joint capsule, or fascia to bone. During morphogenesis, the cell population co-expressing Scleraxis(Scx)and the SRY-box containing gene 9(Sox9)contributes to the formation of fibrocartilaginous entheses. Scx regulates tendon and ligament maturation, while Sox9 is a key regulatory factor for cartilage formation...
2018: Clinical Calcium
Hiroki Goto, Miki Nishio, Yoko To, Tatsuya Oishi, Yosuke Miyachi, Tomohiko Maehama, Hiroshi Nishina, Haruhiko Akiyama, Tak Wah Mak, Yuma Makii, Taku Saito, Akihiro Yasoda, Noriyuki Tsumaki, Akira Suzuki
Hippo signaling is modulated in response to cell density, external mechanical forces, or rigidity of the extracellular matrix (ECM). The Mps one binder kinase activator (MOB) adaptor proteins are core components of Hippo signaling and have important effects on Yes-associated protein-1 (YAP1) and transcriptional co-activator with PDZ-binding motif (TAZ), which are potent transcriptional regulators. YAP1/TAZ are key contributors to cartilage and bone development but the molecular mechanisms by which the Hippo pathway controls chondrogenesis are largely unknown...
March 6, 2018: Development
Tomoya Sakabe, Keiko Sakai, Toru Maeda, Ataru Sunaga, Nao Furuta, Ronen Schweitzer, Takako Sasaki, Takao Sakai
Tendon is a dense connective tissue that transmits high mechanical forces from skeletal muscle to bone. The transcription factor scleraxis (Scx) is a highly specific marker of both precursor and mature tendon cells (tenocytes). Mice lacking scx exhibit a specific and virtually complete loss of tendons during development. However, the functional contribution of Scx to wound healing in adult tendon has not yet been fully characterized. Here, using ScxGFP-tracking and loss-of-function systems, we show in an adult mouse model of Achilles tendon injury that paratenon cells, representing a stem cell antigen-1 (Sca-1)-positive and Scx-negative progenitor subpopulation, display Scx induction, migrate to the wound site, and produce extracellular matrix (ECM) to bridge the defect, whereas resident tenocytes exhibit a delayed response...
March 5, 2018: Journal of Biological Chemistry
Chen Zhao, Wei Jiang, Nian Zhou, Junyi Liao, Mingming Yang, Ning Hu, Xi Liang, Wei Xu, Hong Chen, Wei Liu, Lewis L Shi, Leonardo Oliveira, Jennifer Moriatis Wolf, Sherwin Ho, Aravind Athiviraham, H M Tsai, Tong-Chuan He, Wei Huang
Cartilage injuries caused by arthritis or trauma pose formidable challenges for effective clinical management due to the limited intrinsic proliferative capability of chondrocytes. Autologous stem cell-based therapies and transgene-enhanced cartilage tissue engineering may open new avenues for the treatment of cartilage injuries. Bone morphogenetic protein 2 (BMP2) induces effective chondrogenesis of mesenchymal stem cells (MSCs) and can thus be explored as a potential therapeutic agent for cartilage defect repair...
December 2017: Genes & Diseases
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