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https://www.readbyqxmd.com/read/27810688/clinical-whole-exome-sequencing-in-early-onset-diabetes-patients
#1
Soo Heon Kwak, Chan-Hyeon Jung, Chang Ho Ahn, Jungsun Park, Jeesoo Chae, Hye Seung Jung, Young Min Cho, Dae Ho Lee, Jong-Il Kim, Kyong Soo Park
AIMS: There could be an overlap of monogenic diabetes and early onset type 2 diabetes in those who are diagnosed before age of 30years. Genetic diagnosis in these patients might improve the quality of care. A limited number of studies have used whole exome sequencing (WES) in Asian patients with early onset diabetes, and the clinical utility of WES is largely unknown. METHODS: We performed whole exome capture and massive parallel sequencing in 28 patients with early onset diabetes...
October 15, 2016: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27744525/exome-chip-association-analysis-reveals-an-asian-specific-missense-variant-in-pax4-associated-with-type-2-diabetes-in-chinese-individuals
#2
Chloe Y Y Cheung, Clara S Tang, Aimin Xu, Chi-Ho Lee, Ka-Wing Au, Lin Xu, Carol H Y Fong, Kelvin H M Kwok, Wing-Sun Chow, Yu-Cho Woo, Michele M A Yuen, JoJo S H Hai, Ya-Li Jin, Bernard M Y Cheung, Kathryn C B Tan, Stacey S Cherny, Feng Zhu, Tong Zhu, G Neil Thomas, Kar-Keung Cheng, Chao-Qiang Jiang, Tai-Hing Lam, Hung-Fat Tse, Pak-Chung Sham, Karen S L Lam
AIMS/HYPOTHESIS: Genome-wide association studies (GWASs) have identified many common type 2 diabetes-associated variants, mostly at the intronic or intergenic regions. Recent advancements of exome-array genotyping platforms have opened up a novel means for detecting the associations of low-frequency or rare coding variants with type 2 diabetes. We conducted an exomechip association analysis to identify additional type 2 diabetes susceptibility variants in the Chinese population. METHODS: An exome-chip association study was conducted by genotyping 5640 Chinese individuals from Hong Kong, using a custom designed exome array, the Asian Exomechip...
January 2017: Diabetologia
https://www.readbyqxmd.com/read/27500257/mtor-inhibition-reduced-insulin-secretion-and-sensitivity-in-a-rat-model-of-metabolic-syndrome
#3
Jordi Rovira, María Jose Ramírez-Bajo, Elisenda Banon-Maneus, Daniel Moya-Rull, Pedro Ventura-Aguiar, Natalia Hierro-Garcia, Marta Lazo-Rodriguez, Ignacio Revuelta, Armando Torres, Federico Oppenheimer, Josep M Campistol, Fritz Diekmann
BACKGROUND: Sirolimus (SRL) has been associated with new-onset diabetes mellitus after transplantation. The aim was to determine the effect of SRL on development of insulin resistance and β -cell toxicity. METHODS: Lean Zucker rat (LZR) and obese Zucker rat (OZR) were distributed into groups: vehicle and SRL (0.25, 0.5, or 1.0 mg/kg) during 12 or 28 days. Intraperitoneal glucose tolerance test (IPGTT) was evaluated at days 0, 12, 28, and 45. Islet morphometry, β-cell proliferation, and apoptosis were analyzed at 12 days...
February 2016: Transplantation Direct
https://www.readbyqxmd.com/read/27420379/a-preliminary-study-to-evaluate-the-strategy-of-combining-clinical-criteria-and-next-generation-sequencing-ngs-for-the-identification-of-monogenic-diabetes-among-multi-ethnic-asians
#4
Su Fen Ang, Su Chi Lim, Clara Sh Tan, Jessie Cw Fong, Winston Yc Kon, Joyce X Lian, Tavintharan Subramanium, Chee Fang Sum
AIMS: Diabetes is increasing globally and Asia is the epicenter. Among those with young-onset diabetes (<45years), the prevalence of monogenic diabetes is estimated to be non-trivial (∼5%). An accurate diagnosis of monogenic diabetes is important to inform treatment, prognosis and genetic counseling. Therefore, a robust clinical algorithm to identify probands for testing is needed. Our aims are (1) to select probands for genetic testing and variant identification based on their clinical phenotype and (2) to evaluate the MODY probability calculator in our multi-ethnic Asian population...
September 2016: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27371613/differing-expression-profiles-of-notch-enterocyte-and-wnt-secretory-lineage-signallings-are-associated-with-morphological-diversity-of-appendiceal-tumours
#5
Xianyong Gui, Ziran Meng, Yarrow J McConnell, Shuhong Liu, Vincent G Falck, Lloyd A Mack, Walley J Temple
BACKGROUND: Tumours of appendix, including classic carcinoid tumour (CCT), goblet cell carcinoid (GCC), low-grade appendiceal mucinous neoplasm, high-grade appendiceal mucinous neoplasm/mucinous carcinoma (MCA) and non-mucinous adenocarcinoma (NMA), show different and sometimes mixed morphological features. It was hypothesised that these tumours originate from common tumour stem cell(s) with potential of various cell lineage differentiation. In normal intestinal epithelium, absorptive lineage (enterocytes) differentiation is driven by Notch-Hes1 pathway, while secretory lineage is driven by Wnt-Math1 pathway and further separated by different downstream signallings into three sublineages (Gfi1-Klf4/Elf3 for goblet cells, Gfi1-Sox9 for Paneth cells and Ngn3-Pdx1/Beta2/Pax4 for enteroendocrine cells)...
July 1, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27334367/pax4-r192h-and-p321h-polymorphisms-in-type-2-diabetes-and-their-functional-defects
#6
Jatuporn Sujjitjoon, Suwattanee Kooptiwut, Nalinee Chongjaroen, Namoiy Semprasert, Wanthanee Hanchang, Kanjana Chanprasert, Watip Tangjittipokin, Pa-Thai Yenchitsomanus, Nattachet Plengvidhya
We have previously identified PAX4 mutations causing MODY9 and a recent genome-wide association study reported a susceptibility locus of type 2 diabetes (T2D) near PAX4. In this study, we aim to investigate the association between PAX4 polymorphisms and T2D in Thai patients and examine functions of PAX4 variant proteins. PAX4 rs2233580 (R192H) and rs712701 (P321H) were genotyped in 746 patients with T2D and 562 healthy normal control subjects by PCR and restriction-fragment length polymorphism method. PAX4 variant proteins were investigated for repressor function on human insulin and glucagon promoters and for cell viability and apoptosis upon high glucose exposure...
June 23, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27243814/generation-of-functional-beta-like-cells-from-human-exocrine-pancreas
#7
Maria J Lima, Kenneth R Muir, Hilary M Docherty, Neil W A McGowan, Shareen Forbes, Yves Heremans, Harry Heimberg, John Casey, Kevin Docherty
Transcription factor mediated lineage reprogramming of human pancreatic exocrine tissue could conceivably provide an unlimited supply of islets for transplantation in the treatment of diabetes. Exocrine tissue can be efficiently reprogrammed to islet-like cells using a cocktail of transcription factors: Pdx1, Ngn3, MafA and Pax4 in combination with growth factors. We show here that overexpression of exogenous Pax4 in combination with suppression of the endogenous transcription factor ARX considerably enhances the production of functional insulin-secreting β-like cells with concomitant suppression of α-cells...
2016: PloS One
https://www.readbyqxmd.com/read/27240324/enhanced-differentiation-of-human-amniotic-fluid-derived-stem-cells-into-insulin-producing-cells-in-vitro
#8
Mu Xu-Peng, Ren Li-Qun, Yan Hao-Wei, Zhang Xin-Min, Xu Tian-Min, Wei An-Hui, Jiang Jin-Lan
AIMS/INTRODUCTION: To investigate the ability of human amniotic fluid stem cells (hAFSCs) to differentiate into insulin-producing cells. MATERIALS AND METHODS: hAFSCs were induced to differentiate into pancreatic cells by a multistep protocol. The expressions of pancreas-related genes and proteins, including pancreatic and duodenal homeobox-1 (Pdx-1), insulin and glucose transporter 2 (Glut2) were detected by PCR and immunofluorescence. Insulin secreted from differentiated cells was tested by enzyme-linked immunosorbent assay...
May 30, 2016: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/27068127/the-combined-effect-of-pdx1-epidermal-growth-factor-and-poly-l-ornithine-on-human-amnion-epithelial-cells-differentiation
#9
Shruti Balaji, Yu Zhou, Anasuya Ganguly, Emmanuel C Opara, Shay Soker
BACKGROUND: It has been suggested that the ectopic expression of PDX1, a dominant pancreatic transcription factor, plays a critical role in the developmental programming of the pancreas even from cells of unrelated tissues such as keratinocytes and amniotic fluid stem cells. In this study we have chosen to drive pancreatic development in human amnion epithelial cells by inducing endogenous PDX1 expression. Further, we have investigated the role of Epidermal Growth Factor (EGF) and Poly-L-Ornithine (PLO) on this differentiation process...
2016: BMC Developmental Biology
https://www.readbyqxmd.com/read/26859870/transcriptomics-modeling-of-the-late-gestation-fetal-pituitary-response-to-transient-hypoxia
#10
Charles E Wood, Eileen I Chang, Elaine M Richards, Maria Belen Rabaglino, Maureen Keller-Wood
BACKGROUND: The late-gestation fetal sheep responds to hypoxia with physiological, neuroendocrine, and cellular responses that aid in fetal survival. The response of the fetus to hypoxia represents a coordinated effort to maximize oxygen transfer from the mother and minimize wasteful oxygen consumption by the fetus. While there have been many studies aimed at investigating the coordinated physiological and endocrine responses to hypoxia, and while immunohistochemical or in situ hybridization studies have revealed pathways supporting the endocrine function of the pituitary, there is little known about the coordinated cellular response of the pituitary to the hypoxia...
2016: PloS One
https://www.readbyqxmd.com/read/26856418/redifferentiation-of-expanded-human-islet-%C3%AE-cells-by-inhibition-of-arx
#11
Orr Friedman-Mazursky, Ran Elkon, Shimon Efrat
Ex-vivo expansion of adult human islet β cells has been evaluated for generation of abundant insulin-producing cells for transplantation; however, lineage-tracing has demonstrated that this process results in β-cell dedifferentiation. Redifferentiation of β-cell-derived (BCD) cells can be achieved using a combination of soluble factors termed Redifferentiation Cocktail (RC); however, this treatment leads to redifferentiation of only a fraction of BCD cells. This study aimed at improving redifferentiation efficiency by affecting the balance of islet progenitor-cell transcription factors activated by RC treatment...
2016: Scientific Reports
https://www.readbyqxmd.com/read/26851122/successful-induction-of-sclerostin-in-human-derived-fibroblasts-by-4-transcription-factors-and-its-regulation-by-parathyroid-hormone-hypoxia-and-prostaglandin-e2
#12
Makoto Fujiwara, Takuo Kubota, Wei Wang, Yasuhisa Ohata, Kohji Miura, Taichi Kitaoka, Daisuke Okuzaki, Noriyuki Namba, Toshimi Michigami, Yasuji Kitabatake, Keiichi Ozono
Sclerostin, coded by SOST, is a secretory protein that is specifically expressed in osteocytes and suppresses osteogenesis by inhibiting WNT signaling. The regulatory mechanism underlying SOST expression remains unclear mainly due to the absence of an adequate human cell model. Thus, we herein attempted to establish a cell model of human dermal fibroblasts in order to investigate the functions of sclerostin. We selected 20 candidate transcription factors (TFs) that induce SOST expression by analyzing gene expression patterns in the human sarcoma cell line, SaOS-2, between differentiation and maintenance cultures using microarrays...
April 2016: Bone
https://www.readbyqxmd.com/read/26813254/pax4-preserves-endoplasmic-reticulum-integrity-preventing-beta-cell-degeneration-in-a-mouse-model-of-type-1-diabetes-mellitus
#13
José Manuel Mellado-Gil, Carmen María Jiménez-Moreno, Alejandro Martin-Montalvo, Ana Isabel Alvarez-Mercado, Esther Fuente-Martin, Nadia Cobo-Vuilleumier, Petra Isabel Lorenzo, Eva Bru-Tari, Irene de Gracia Herrera-Gómez, Livia López-Noriega, Javier Pérez-Florido, Javier Santoyo-López, Andreas Spyrantis, Paolo Meda, Bernhard O Boehm, Ivan Quesada, Benoit R Gauthier
AIMS/HYPOTHESIS: A strategy to enhance pancreatic islet functional beta cell mass (BCM) while restraining inflammation, through the manipulation of molecular and cellular targets, would provide a means to counteract the deteriorating glycaemic control associated with diabetes mellitus. The aims of the current study were to investigate the therapeutic potential of such a target, the islet-enriched and diabetes-linked transcription factor paired box 4 (PAX4), to restrain experimental autoimmune diabetes (EAD) in the RIP-B7...
April 2016: Diabetologia
https://www.readbyqxmd.com/read/26711255/activinb-is-induced-in-insulinoma-to-promote-tumor-plasticity-through-a-%C3%AE-cell-induced-dedifferentiation
#14
Doriane Ripoche, Jérémie Charbord, Ana Hennino, Romain Teinturier, Rémy Bonnavion, Rami Jaafar, Delphine Goehrig, Martine Cordier-Bussat, Olli Ritvos, Chang X Zhang, Olov Andersson, Philippe Bertolino
Loss of pancreatic β-cell maturity occurs in diabetes and insulinomas. Although both physiological and pathological stresses are known to promote β-cell dedifferentiation, little is known about the molecules involved in this process. Here we demonstrate that activinB, a transforming growth factor β (TGF-β)-related ligand, is upregulated during tumorigenesis and drives the loss of insulin expression and β-cell maturity in a mouse insulinoma model. Our data further identify Pax4 as a previously unknown activinB target and potent contributor to the observed β-cell dedifferentiation...
March 2016: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/26690959/identification-of-mirnas-involved-in-reprogramming-acinar-cells-into-insulin-producing-cells
#15
Joan Teichenne, Meritxell Morró, Alba Casellas, Veronica Jimenez, Noelia Tellez, Adrien Leger, Fatima Bosch, Eduard Ayuso
Reprogramming acinar cells into insulin producing cells using adenoviral (Ad)-mediated delivery of Pdx1, Ngn3 and MafA (PNM) is an innovative approach for the treatment of diabetes. Here, we aimed to investigate the molecular mechanisms involved in this process and in particular, the role of microRNAs. To this end, we performed a comparative study of acinar-to-β cell reprogramming efficiency in the rat acinar cell line AR42J and its subclone B13 after transduction with Ad-PNM. B13 cells were more efficiently reprogrammed than AR42J cells, which was demonstrated by a strong activation of β cell markers (Ins1, Ins2, IAPP, NeuroD1 and Pax4)...
2015: PloS One
https://www.readbyqxmd.com/read/26635867/mapping-mammalian-cell-type-specific-transcriptional-regulatory-networks-using-kd-cage-and-chip-seq-data-in-the-tc-yik-cell-line
#16
Marina Lizio, Yuri Ishizu, Masayoshi Itoh, Timo Lassmann, Akira Hasegawa, Atsutaka Kubosaki, Jessica Severin, Hideya Kawaji, Yukio Nakamura, Harukazu Suzuki, Yoshihide Hayashizaki, Piero Carninci, Alistair R R Forrest
Mammals are composed of hundreds of different cell types with specialized functions. Each of these cellular phenotypes are controlled by different combinations of transcription factors. Using a human non islet cell insulinoma cell line (TC-YIK) which expresses insulin and the majority of known pancreatic beta cell specific genes as an example, we describe a general approach to identify key cell-type-specific transcription factors (TFs) and their direct and indirect targets. By ranking all human TFs by their level of enriched expression in TC-YIK relative to a broad collection of samples (FANTOM5), we confirmed known key regulators of pancreatic function and development...
2015: Frontiers in Genetics
https://www.readbyqxmd.com/read/26633894/the-role-of-arx-in-human-pancreatic-endocrine-specification
#17
Blair K Gage, Ali Asadi, Robert K Baker, Travis D Webber, Rennian Wang, Masayuki Itoh, Masaharu Hayashi, Rie Miyata, Takumi Akashi, Timothy J Kieffer
The in vitro differentiation of human embryonic stem cells (hESCs) offers a model system to explore human development. Humans with mutations in the transcription factor Aristaless Related Homeobox (ARX) often suffer from the syndrome X-linked lissencephaly with ambiguous genitalia (XLAG), affecting many cell types including those of the pancreas. Indeed, XLAG pancreatic islets lack glucagon and pancreatic polypeptide-positive cells but retain somatostatin, insulin, and ghrelin-positive cells. To further examine the role of ARX in human pancreatic endocrine development, we utilized genomic editing in hESCs to generate deletions in ARX...
2015: PloS One
https://www.readbyqxmd.com/read/26503027/pax4-defines-an-expandable-%C3%AE-cell-subpopulation-in-the-adult-pancreatic-islet
#18
Petra I Lorenzo, Esther Fuente-Martín, Thierry Brun, Nadia Cobo-Vuilleumier, Carmen María Jimenez-Moreno, Irene G Herrera Gomez, Livia López Noriega, José Manuel Mellado-Gil, Alejandro Martin-Montalvo, Bernat Soria, Benoit R Gauthier
PAX4 is a key regulator of pancreatic islet development whilst in adult acute overexpression protects β-cells against stress-induced apoptosis and stimulates proliferation. Nonetheless, sustained PAX4 expression promotes β-cell dedifferentiation and hyperglycemia, mimicking β-cell failure in diabetic patients. Herein, we study mechanisms that allow stringent PAX4 regulation endowing favorable β-cell adaptation in response to changing environment without loss of identity. To this end, PAX4 expression was monitored using a mouse bearing the enhanced green fluorescent protein (GFP) and cre recombinase construct under the control of the islet specific pax4 promoter...
2015: Scientific Reports
https://www.readbyqxmd.com/read/26435408/pax4-gene-transfer-induces-%C3%AE-to-%C3%AE-cell-phenotypic-conversion-and-confers-therapeutic-benefits-for-diabetes-treatment
#19
Yanqing Zhang, Genevieve E Fava, Hongjun Wang, Franck Mauvais-Jarvis, Vivian A Fonseca, Hongju Wu
The transcription factor Pax4 plays a critical role in the determination of α- versus β-cell lineage during endocrine pancreas development. In this study, we explored whether Pax4 gene transfer into α-cells could convert them into functional β-cells and thus provide therapeutic benefits for insulin-deficient diabetes. We found that Pax4 delivered by adenoviral vector, Ad5.Pax4, induced insulin expression and reduced glucagon expression in αTC1.9 cells. More importantly, these cells exhibited glucose-stimulated insulin secretion, a key feature of functional β-cells...
February 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/26319183/pax4-acts-as-a-key-player-in-pancreas-development-and-plasticity
#20
REVIEW
Tiziana Napolitano, Fabio Avolio, Monica Courtney, Andhira Vieira, Noémie Druelle, Nouha Ben-Othman, Biljana Hadzic, Sergi Navarro, Patrick Collombat
The embryonic development of the pancreas is orchestrated by a complex and coordinated transcription factor network. Neurogenin3 (Neurog3) initiates the endocrine program by activating the expression of additional transcription factors driving survival, proliferation, maturation and lineage allocation of endocrine precursors. Among the direct targets of Neurog3, Pax4 appears as one of the key regulators of β-cell specification. Indeed, mice lacking Pax4 die a few days postpartum, as they develop severe hyperglycemia due to the absence of mature pancreatic β-cells...
August 2015: Seminars in Cell & Developmental Biology
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