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Katarzyna Iwanicka-Pronicka, Magdalena Socha, Maria Jędrzejowska, Małgorzata Krajewska-Walasek, Aleksander Jamsheer
Holt-Oram syndrome (HOS) features radial ray hypoplasia, heart defect and cardiac conduction impairment. Ulnar-mammary syndrome (UMS) characterizes congenital defects of the ulnar side of the upper limbs, underdevelopment of apocrine glands including hypoplasia and the dysfunction of mammary glands, hypogonadism and obesity. Inheritance of both conditions is autosomal dominant, mutations or deletions are found in the TBX5 and TBX3 gene, respectively. The Polish patient presented short stature, obesity, congenital malformation of the radial and ulnar side of the upper limbs, heart block, hypogonadism and dysmorphic features...
2016: SpringerPlus
Timo H Lüdtke, Carsten Rudat, Irina Wojahn, Anna-Carina Weiss, Marc-Jens Kleppa, Jennifer Kurz, Henner F Farin, Anne Moon, Vincent M Christoffels, Andreas Kispert
Numerous signals drive the proliferative expansion of the distal endoderm and the underlying mesenchyme during lung branching morphogenesis, but little is known about how these signals are integrated. Here, we show by analysis of conditional double mutants that the two T-box transcription factor genes Tbx2 and Tbx3 act together in the lung mesenchyme to maintain branching morphogenesis. Expression of both genes depends on epithelially derived Shh signaling, with additional modulation by Bmp, Wnt, and Tgfβ signaling...
October 4, 2016: Developmental Cell
Lukas Perkhofer, Karolin Walter, Ivan G Costa, Maria C Romero Carrasco, Tim Eiseler, Susanne Hafner, Felicitas Genze, Martin Zenke, Wendy Bergmann, Anett Illing, Meike Hohwieler, Ralf Köhntop, Qiong Lin, Karl-Heinz Holzmann, Thomas Seufferlein, Martin Wagner, Stefan Liebau, Patrick C Hermann, Alexander Kleger, Martin Müller
Cell fate decisions and pluripotency, but also malignancy depend on networks of key transcriptional regulators. The T-box transcription factor TBX3 has been implicated in the regulation of embryonic stem cell self-renewal and cardiogenesis. We have recently discovered that forced TBX3 expression in embryonic stem cells promotes mesendoderm specification directly by activating key lineage specification factors and indirectly by enhancing paracrine NODAL signalling. Interestingly, aberrant TBX3 expression is associated with breast cancer and melanoma formation...
August 10, 2016: Stem Cell Research
Zahra Motahari, Reyna I Martinez-De Luna, Andrea S Viczian, Michael E Zuber
Vertebrate eye formation begins in the anterior neural plate in the eye field. Seven eye field transcription factors (EFTFs) are expressed in eye field cells and when expressed together are sufficient to generate retina from pluripotent cells. The EFTF Tbx3 can regulate the expression of some EFTFs; however, its role in retina formation is unknown. Here, we show that Tbx3 represses bmp4 transcription and is required in the eye field for both neural induction and normal eye formation in Xenopus laevis Although sufficient for neural induction, Tbx3-expressing pluripotent cells only form retina in the context of the eye field...
October 1, 2016: Development
Zhi-Feng Miao, Xing-Yu Liu, Hui-Mian Xu, Zhen-Ning Wang, Ting-Ting Zhao, Yong-Xi Song, Ya-Nan Xing, Jin-Yu Huang, Jun-Yan Zhang, Hao Xu, Ying-Ying Xu
The objective of the current study was to investigate the expression pattern of Tbx3 and its clinicopathological significance in patients with gastric cancer. The expression pattern of Tbx3 in gastric cancer tissues and adjacent noncancerous surface epithelia and mucosal glands was detected by immunohistochemistry. Tbx3 was found to be overexpressed in 46 of 98 human gastric cancer samples, and this correlated with advanced clinical stage, tumor stage, and nodal status. In addition, in the SGC-7901 gastric cancer cell line, Tbx3 overexpression by plasmid transfection promoted growth and invasion...
August 24, 2016: Virchows Archiv: An International Journal of Pathology
Milica Krstic, Connor D Macmillan, Hon S Leong, Allen G Clifford, Lesley H Souter, David W Dales, Carl O Postenka, Ann F Chambers, Alan B Tuck
BACKGROUND: TBX3 is a T-box transcription factor repressor that is elevated in metastatic breast cancer and is believed to promote malignancy of tumor cells, possibly by promoting cell survival and epithelial-mesenchymal transition. METHODS: The relative expression of TBX3 was assessed in the 21T cell lines which were derived from an individual patient and represent three distinct stages of breast cancer progression: 21PT, atypical ductal hyperplasia; 21NT, ductal carcinoma in situ; and 21MT-1, invasive mammary carcinoma...
2016: BMC Cancer
Mary P Colasanto, Shai Eyal, Payam Mohassel, Michael Bamshad, Carsten Bonnemann, Elazar Zelzer, Anne M Moon, Gabrielle Kardon
In the vertebrate limb over 40 muscles are arranged in a precise pattern of attachment via muscle connective tissue and tendon to bone and provide an extensive range of motion. How the development of somite-derived muscle is coordinated with the development of lateral plate-derived muscle connective tissue, tendon, and bone to assemble a functional limb musculoskeletal system is a long-standing question. Mutations in the T-box transcription factor, TBX3, have previously been identified as the genetic cause of ulnar-mammary syndrome (UMS), characterized by distinctive defects in posterior forelimb bones...
August 4, 2016: Disease Models & Mechanisms
Elizabeth Margolskee, Vaidehi Jobanputra, Preti Jain, Jinli Chen, Karthik Ganapathi, Odelia Nahum, Brynn Levy, Julie Morscio, Vundavalli Murty, Thomas Tousseyn, Bachir Alobeid, Mahesh Mansukhani, Govind Bhagat
Post-transplant lymphoproliferative disorders of T- or NK-cell origin (T/NK-PTLD) are rare entities and their genetic basis is unclear. We performed targeted sequencing of 465 cancer-related genes and high-resolution copy number analysis in 18 T-PTLD and 1 NK-PTLD cases. Overall, 377 variants were detected, with an average of 20 variants per case. Heterozygous mutations of epigenetic modifier genes (TET2, DNMT3A, ARID1B, ARID2, KDM6B, n=11) and inactivation of TP53 by mutation and/or deletion(n=6) were the most frequent alterations, seen across disease subtypes, followed by mutations of JAK/STAT pathway genes (n=5)...
May 17, 2016: Oncotarget
Motoaki Sano, Shigeo Kamitsuji, Naoyuki Kamatani, Yasuharu Tabara, Takahisa Kawaguchi, Fumihiko Matsuda, Hiroyuki Yamagishi, Keiichi Fukuda
Left ventricular hypertrophy (LVH) represents a common final pathway leading to heart failure. We have searched for genetic determinants of left ventricular (LV) mass using values for absolute electrocardiographic QRS voltage in a healthy Japanese population. After adjusting for covariates, the corrected S and R wave voltages in leads V1 and V5 from 2,994 healthy volunteers in the Japan Pharmacogenomics Data Science Consortium (JPDSC) database were subjected to a genome-wide association study. Potential associations were validated by an in silico replication study using an independent Japanese population obtained from the Nagahama Prospective Genome Cohort for Comprehensive Human Bioscience...
2016: PloS One
Jennifer England, Kar Lai Pang, Matthew Parnall, Maria Isabel Haig, Siobhan Loughna
The heart is the first functioning organ to develop during embryogenesis. The formation of the heart is a tightly regulated and complex process, and alterations to its development can result in congenital heart defects. Mutations in sarcomeric proteins, such as alpha myosin heavy chain and cardiac alpha actin, have now been associated with congenital heart defects in humans, often with atrial septal defects. However, cardiac troponin T (cTNT encoded by gene TNNT2) has not. Using gene-specific antisense oligonucleotides, we have investigated the role of cTNT in chick cardiogenesis...
September 2016: Journal of Anatomy
Dao-Rong Hou, Yong Jin, Xiao-Wei Nie, Man-Ling Zhang, Na Ta, Li-Hua Zhao, Ning Yang, Yuan Chen, Zhao-Qiang Wu, Hai-Bin Jiang, Yan-Ru Li, Qing-Yuan Sun, Yi-Fan Dai, Rong-Feng Li
Efficient isolation of embryonic stem (ES) cells from pre-implantation porcine embryos has remained a challenge. Here, we describe the derivation of porcine embryonic stem-like cells (pESLCs) by seeding the isolated inner cell mass (ICM) from in vitro-produced porcine blastocyst into α-MEM with basic fibroblast growth factor (bFGF). The pESL cells kept the normal karyotype and displayed flatten clones, similar in phenotype to human embryonic stem cells (hES cells) and rodent epiblast stem cells. These cells exhibited alkaline phosphatase (AP) activity and expressed pluripotency markers such as OCT4, NANOG, SOX2, SSEA-4, TRA-1-60, and TRA-1-81 as determined by both immunofluorescence and RT-PCR...
2016: Scientific Reports
Tarryn Willmer, Shannagh Hare, Jade Peres, Sharon Prince
BACKGROUND: TBX3, a member of the T-box family of transcription factors, is essential in development and has emerged as an important player in the oncogenic process. TBX3 is overexpressed in several cancers and has been shown to contribute directly to tumour formation, migration and invasion. However, little is known about the molecular basis for its role in development and oncogenesis because there is a paucity of information regarding its target genes. The cyclin-dependent kinase inhibitor p21(WAF1) plays a pivotal role in a myriad of processes including cell cycle arrest, senescence and apoptosis and here we provide a detailed mechanism to show that it is a direct and biologically relevant target of TBX3...
2016: Cell Division
Sumaira Amir, Catalina Simion, Maxine Umeh-Garcia, Sheryl Krig, Tyler Moss, Kermit L Carraway, Colleen Sweeney
BACKGROUND: The Tbx3 transcription factor is over-expressed in breast cancer, where it has been implicated in proliferation, migration and regulation of the cancer stem cell population. The mechanisms that regulate Tbx3 expression in cancer have not been fully explored. In this study, we demonstrate that Tbx3 is repressed by the tumour suppressor miR-206 in breast cancer cells. METHODS: Bioinformatics prediction programmes and luciferase reporter assays were used to demonstrate that miR-206 negatively regulates Tbx3...
May 10, 2016: British Journal of Cancer
Nidal Ghosheh, Björn Olsson, Josefina Edsbagge, Barbara Küppers-Munther, Mariska Van Giezen, Annika Asplund, Tommy B Andersson, Petter Björquist, Helena Carén, Stina Simonsson, Peter Sartipy, Jane Synnergren
Human pluripotent stem cells- (hPSCs-) derived hepatocytes have the potential to replace many hepatic models in drug discovery and provide a cell source for regenerative medicine applications. However, the generation of fully functional hPSC-derived hepatocytes is still a challenge. Towards gaining better understanding of the differentiation and maturation process, we employed a standardized protocol to differentiate six hPSC lines into hepatocytes and investigated the synchronicity of the hPSC lines by applying RT-qPCR to assess the expression of lineage-specific genes (OCT4, NANOG, T, SOX17, CXCR4, CER1, HHEX, TBX3, PROX1, HNF6, AFP, HNF4a, KRT18, ALB, AAT, and CYP3A4) which serve as markers for different stages during liver development...
2016: Stem Cells International
Bin Wen, Hai-Tao Sun, Song-Qi He, Lei LA, Hai-Yan An, Jie Pang
OBJECTIVE: To explore the molecular mechanism by which Biejiajian pills inhibit hepatocellular carcinoma in a nude mouse model bearing HepG2 cell xenograft. METHODS: The inhibitory effect of Biejiajian pills on the growth of HepG2 cell xenograft in nude mice was observed. Immunohistochemical method was used to examine proliferating cell nuclear antigen (PCNA) expression in HepG2 cell xenograft, and TUNEL method was employed to detect the cell apoptosis; the expression levels of β-catenin and Tbx3 were measured by Western blotting...
February 2016: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
Chaymaa Marouf, Stella Göhler, Miguel Inacio Da Silva Filho, Omar Hajji, Kari Hemminki, Sellama Nadifi, Asta Försti
BACKGROUND: Breast cancer (BC) is the most prevalent cancer in women and a major public health problem in Morocco. Several Moroccan studies have focused on studying this disease, but more are needed, especially at the genetic and molecular levels. Therefore, we investigated the potential association of several functional germline variants in the genes commonly mutated in sporadic breast cancer. METHODS: In this case-control study, we examined 36 single nucleotide polymorphisms (SNPs) in 13 genes (APOBEC3A, APOBEC3B, ARID1B, ATR, MAP3K1, MLL2, MLL3, NCOR1, RUNX1, SF3B1, SMAD4, TBX3, TTN), which were located in the core promoter, 5'-and 3'UTR or which were nonsynonymous SNPs to assess their potential association with inherited predisposition to breast cancer development...
2016: BMC Cancer
T Willmer, A Cooper, D Sims, D Govender, S Prince
Sarcomas represent a complex group of malignant neoplasms of mesenchymal origin and their heterogeneity poses a serious diagnostic and therapeutic challenge. There is therefore a need to elucidate the molecular mechanisms underpinning the pathogenesis of the more than 70 distinguishable sarcoma subtypes. The transcription factor TBX3, a critical developmental regulator, is overexpressed in several cancers of epithelial origin where it contributes to tumorigenesis by different molecular mechanisms. However, the status and role of TBX3 in sarcomas have not been reported...
2016: Oncogenesis
Hanan E Shamseldin, Shams Anazi, Salma M Wakil, Eissa Faqeih, Heba Y El Khashab, Mustafa A Salih, Mohammad M Al-Qattan, Mais Hashem, Haifa Alsedairy, Fowzan S Alkuraya
Limb reduction malformations are highly heterogeneous in their clinical presentation and so, predicting the underlying mutation on a clinical basis can be challenging. Molecular karyotyping is a powerful genomic tool that has quickly become the mainstay for the study of children with malformation syndromes. We describe three patients with major limb reduction anomalies in whom pathogenic copy number variants were identified on molecular karyotyping. These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11...
May 2016: American Journal of Medical Genetics. Part A
Moritz Klingenstein, Stefanie Raab, Kevin Achberger, Alexander Kleger, Stefan Liebau, Leonhard Linta
TBX3 is a member of the T-box transcription factor family and is involved in the core pluripotency network. Despite this role in the pluripotency network, its contribution to the reprogramming process during the generation of human induced pluripotent stem cells remains elusive. In this respect, we performed reprogramming experiments applying TBX3 knockdown in human fibroblasts and keratinocytes. Knockdown of TBX3 in both somatic cell types decreased the reprogramming efficiencies in comparison to control cells but with unchanged reprogramming kinetics...
2016: Stem Cells International
Freyja Imsland, Kelly McGowan, Carl-Johan Rubin, Corneliu Henegar, Elisabeth Sundström, Jonas Berglund, Doreen Schwochow, Ulla Gustafson, Páll Imsland, Kerstin Lindblad-Toh, Gabriella Lindgren, Sofia Mikko, Lee Millon, Claire Wade, Mikkel Schubert, Ludovic Orlando, Maria Cecilia T Penedo, Gregory S Barsh, Leif Andersson
Dun is a wild-type coat color in horses characterized by pigment dilution with a striking pattern of dark areas termed primitive markings. Here we show that pigment dilution in Dun horses is due to radially asymmetric deposition of pigment in the growing hair caused by localized expression of the T-box 3 (TBX3) transcription factor in hair follicles, which in turn determines the distribution of hair follicle melanocytes. Most domestic horses are non-dun, a more intensely pigmented phenotype caused by regulatory mutations impairing TBX3 expression in the hair follicle, resulting in a more circumferential distribution of melanocytes and pigment granules in individual hairs...
February 2016: Nature Genetics
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