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https://www.readbyqxmd.com/read/28400699/ladd-syndrome-with-glaucoma-is-caused-by-a-novel-gene
#1
Allie Simpson, Armin Avdic, Ben R Roos, Adam DeLuca, Kathy Miller, Michael J Schnieders, Todd E Scheetz, Wallace L M Alward, John H Fingert
PURPOSE: Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder displaying variable expression of multiple congenital anomalies including hypoplasia or aplasia of the lacrimal and salivary systems causing abnormal tearing and dry mouth. Mutations in the FGF10, FGFR2, and FGFR3 genes were found to cause some cases of LADD syndrome in prior genetic studies. The goal of this study is to identify the genetic basis of a case of LADD syndrome with glaucoma and thin central corneal thickness (CCT)...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28387977/ex-vivo-analysis-of-the-contribution-of-fgf10-cells-to-airway-smooth-muscle-cell-formation-during-early-lung-development
#2
Elie El Agha, Vahid Kheirollahi, Alena Moiseenko, Werner Seeger, Saverio Bellusci
BACKGROUND: Airway smooth muscle cells (ASMCs) have been widely studied during embryonic lung development. These cells have been shown to control epithelial bifurcation during branching morphogenesis. Fibroblast growth factor 10-positive (FGF10(+) ) cells, originally residing in the submesothelial mesenchyme, contribute to ASMC formation in the distal lung. The reported work aims at monitoring the response of FGF10(+) progenitors and differentiated ASMCs to growth factor treatment in real time using lineage tracing in the background of an air-liquid interface culture system...
April 7, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28370670/origin-and-characterization-of-alpha-smooth-muscle-actin-positive-cells-during-murine-lung-development
#3
Alena Moiseenko, Vahid Kheirollahi, Cho-Ming Chao, Negah Ahmadvand, Jennifer Quantius, Jochen Wilhelm, Susanne Herold, Katrin Ahlbrecht, Rory E Morty, Albert A Rizvanov, Parviz Minoo, Elie El Agha, Saverio Bellusci
ACTA2 expression identifies pulmonary airway and vascular smooth muscle cells (SMCs) as well as alveolar myofibroblasts (MYF). Mesenchymal progenitors expressing fibroblast growth factor 10 (Fgf10), Wilms tumor 1 (Wt1), or glioma-associated oncogene 1 (Gli1) contribute to SMC formation from early stages of lung development. However, their respective contribution and specificity to the SMC and/or alveolar MYF lineages remain controversial. In addition, the contribution of mesenchymal cells undergoing active WNT signaling remains unknown...
April 3, 2017: Stem Cells
https://www.readbyqxmd.com/read/28364893/genetic-polymorphisms-underlying-the-skeletal-class-iii-phenotype
#4
Christiane Vasconcellos Cruz, Claudia Trindade Mattos, José Calasans Maia, José Mauro Granjeiro, Maria Fernanda Reis, José Nelson Mucha, Beatriz Vilella, Antonio Carlos Ruellas, Ronir Raggio Luiz, Marcelo Castro Costa, Alexandre Rezende Vieira
INTRODUCTION: Our goal was to verify the association between candidate polymorphisms and skeletal Class III malocclusion in a well-characterized homogeneous sample set. METHODS: Thirty-five single-nucleotide polymorphisms were studied from 10 candidate loci in 54 Class III subjects and 120 controls. Skeletal Class III characteristics included ANB angle less than 0°, SNB angle greater than 83° (mandibular prognathism), SNA angle less than 79° (maxillary deficiency), Class III molar relationship, and negative overjet...
April 2017: American Journal of Orthodontics and Dentofacial Orthopedics
https://www.readbyqxmd.com/read/28362406/efficient-differentiation-of-pluripotent-stem-cells-to-nkx6-1-pancreatic-progenitors
#5
Emily C McGaugh, M Cristina Nostro
Pluripotent stem cells have the ability to self renew and differentiate to multiple lineages, making them an attractive source for the generation of pancreatic progenitor cells that can be used for the study of and future treatment of diabetes. This article outlines a four-stage differentiation protocol designed to generate pancreatic progenitor cells from human embryonic stem cells (hESCs). This protocol can be applied to a number of human pluripotent stem cell (hPSC) lines. The approach taken to generate pancreatic progenitor cells is to differentiate hESCs to accurately model key stages of pancreatic development...
March 7, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28348107/mcsf-orchestrates-branching-morphogenesis-in-developing-submandibular-gland-tissue
#6
Gulsan Ara Sathi, Mahmoud Farahat, Emilio Satoshi Hara, Hiroaki Taketa, Hitoshi Nagatsuka, Takuo Kuboki, Takuya Matsumoto
The importance of macrophages in tissue development and regeneration have been strongly emphasized. However, the specific roles of macrophage colony-stimulating factor (MCSF), the key regulator of macrophage differentiation, in glandular tissue development have been unexplored. Here, we disclose new macrophage-independent roles of MCSF in tissue development. We initially found that MCSF is markedly upregulated at embryonic day E13.5, at a stage preceding the colonization of macrophages (at E15.5) in mouse submandibular gland (SMG) tissue...
March 27, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28220305/homeobox-wnt-and-fibroblast-growth-factor-signaling-is-augmented-during-alveogenesis-in-mice-lacking-superoxide-dismutase-3-extracellular
#7
Tania A Thimraj, Rahel L Birru, Ankita Mitra, Holger Schulz, George D Leikauf, Koustav Ganguly
Superoxide dismutase 3, extracellular (SOD3) polymorphisms have been implicated in reduced pulmonary function development and altered risk for chronic obstructive pulmonary disease. We previously reported that gene-targeted Sod3-/- mice have impaired lung function and human SOD3 variants are associated with reduced pulmonary function in children. Reduced lung SOD3 levels were reported in mice with lower lung function with the greatest difference occurring during alveogenesis phase [postnatal (P) days 14-28]...
February 20, 2017: Lung
https://www.readbyqxmd.com/read/28194153/nasal-polyp-derived-mesenchymal-stromal-cells-exhibit-lack-of-immune-associated-molecules-and-high-levels-of-stem-progenitor-cells-markers
#8
Pedro Wey Barbosa de Oliveira, Rogério Pezato, Juan Sebastian Henao Agudelo, Claudina Angela Perez-Novo, Wim Vanden Berghe, Niels Olsen Câmara, Danilo Candido de Almeida, Luís Carlos Gregorio
Mesenchymal stromal cells (MSCs) are considered adult progenitor stem cells and have been studied in a multitude of tissues. In this context, the microenvironment of nasal polyp tissue has several inflammatory cells, but their stroma compartment remains little elucidated. Hence, we isolated MSCs from nasal polyps Polyp-MSCs (PO-MSCs) and compared their molecular features and gene expression pattern with bone marrow-derived MSCs (BM-MSCs). Initially, both PO-MSCs and BM-MSCs were isolated, cultivated, and submitted to morphologic, differentiation, phenotypic, immunosuppressive, and gene expression assays...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28162885/genetic-and-familial-predisposition-to-rotator-cuff-disease-a-systematic-review
#9
REVIEW
Dominique I Dabija, Chan Gao, Todd L Edwards, John E Kuhn, Nitin B Jain
BACKGROUND: Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and is likely to extend beyond repetitive microtrauma or overuse. Our objective was to determine whether there is a genetic or familial predisposition to rotator cuff disease. METHODS: A literature search of PubMed and Embase databases identified 251 citations. After review of the titles, abstracts, and full articles, 7 met our inclusion and exclusion criteria...
February 2, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28069589/analysis-of-the-fgfr2-c342y-mouse-model-shows-condensation-defects-due-to-misregulation-of-sox9-expression-in-prechondrocytic-mesenchyme
#10
Emma Peskett, Samin Kumar, William Baird, Janhvi Jaiswal, Ming Li, Priyanca Patel, Jonathan A Britto, Erwin Pauws
Syndromic craniosynostosis caused by mutations in FGFR2 is characterised by developmental pathology in both endochondral and membranous skeletogenesis. Detailed phenotypic characterisation of features in the membranous calvarium, the endochondral cranial base and other structures in the axial and appendicular skeleton has not been performed at embryonic stages. We investigated bone development in the Crouzon mouse model (Fgfr2(C342Y)) at pre- and post-ossification stages to improve understanding of the underlying pathogenesis...
February 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28029662/guidance-to-rational-use-of-pharmaceuticals-in-gallbladder-sarcomatoid-carcinoma-using-patient-derived-cancer-cells-and-whole-exome-sequencing
#11
Feiling Feng, Qingbao Cheng, Liang Yang, Dadong Zhang, Shunlong Ji, Qiangzu Zhang, Yihui Lin, Fugen Li, Lei Xiong, Chen Liu, Xiaoqing Jiang
PURPOSE: Gallbladder sarcomatoid carcinoma is a rare cancer with no clinical standard treatment. With the rapid development of next generation sequencing, it has been able to provide reasonable treatment options for patients based on genetic variations. However, most cancer drugs are not approval for gallbladder sarcomatoid carcinoma indications. The correlation between drug response and a genetic variation needs to be further elucidated. EXPERIMENTAL DESIGN: Three patient-derived cells-JXQ-3D-001, JXQ-3D-002, and JXQ-3D-003, were derived from biopsy samples of one gallbladder sarcomatoid carcinoma patient with progression and have been characterized...
December 24, 2016: Oncotarget
https://www.readbyqxmd.com/read/28000057/bovine-in-vitro-embryo-production-the-effects-of-fibroblast-growth-factor-10-fgf10
#12
Mateus Nunes Diógenes, Ana Luiza Silva Guimarães, Ligiane Oliveira Leme, Margot Alves Nunes Dode
PURPOSE: In an attempt to improve in vitro embryo production, we investigated the effect of fibroblast growth factor 10 (FGF10) during in vitro maturation on the developmental capacity of bovine oocytes. MATERIAL AND METHODS: Cumulus-oocyte complexes (COCs) were aspirated from follicles of 3-8 mm diameter. After selection, the COCs were matured in medium with or without 0.5 ng/mL of FGF10. The effect of FGF10 during in vitro maturation (IVM) on nuclear maturation kinetics and expansion of the cumulus cells was investigated...
March 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27965056/porcupine-dependent-wnt-signaling-controls-stromal-proliferation-and-endometrial-gland-maintenance-through-the-action-of-distinct-wnts
#13
Omar Farah, Steffen Biechele, Janet Rossant, Daniel Dufort
Wnt signaling has been shown to be important in orchestrating proper development of the female reproductive tract. In the uterus, six members of the Wnt family are expressed in the neonatal endometrium and deletion of individual Wnt genes often leads to similar phenotypes, suggesting an interaction of these genes in uterine development and function. Furthermore, Wnts may have complementary functions, which could mask the identification of their individual functional role in single gene deletions. To circumvent this issue, we have generated a deletion of the Porcupine homolog within the female reproductive tract using progesterone receptor-Cre mice (Pgr(Cre/+)); preventing Wnt secretion from the producing cells...
December 10, 2016: Developmental Biology
https://www.readbyqxmd.com/read/27884045/retinoic-acid-signaling-regulates-krt5-and-krt14-independently-of-stem-cell-markers-in-submandibular-salivary-gland-epithelium
#14
Timur M Abashev, Melissa A Metzler, Diana M Wright, Lisa L Sandell
BACKGROUND: Retinoic acid (RA), the active metabolite of vitamin A, has been demonstrated to be important for growth and branching morphogenesis of mammalian embryonic salivary gland epithelium. However, it is not known whether RA functions directly within epithelial cells or in associated tissues that influence morphogenesis of salivary epithelium. Moreover, downstream targets of RA regulation have not been identified. RESULTS: Here, we show that canonical RA signaling occurs in multiple tissues of embryonic mouse salivary glands, including epithelium, associated parasympathetic ganglion neurons, and nonneuronal mesenchyme...
February 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/27863413/rictor-amplification-identifies-a-subgroup-in-small-cell-lung-cancer-and-predicts-response-to-drugs-targeting-mtor
#15
Nneha Sakre, Gary Wildey, Mohadese Behtaj, Adam Kresak, Michael Yang, Pingfu Fu, Afshin Dowlati
Small cell lung cancer (SCLC) is an aggressive cancer that represents ~15% of all lung cancers. Currently there are no targeted therapies to treat SCLC. Our genomic analysis of a metastatic SCLC cohort identified recurrent RICTOR amplification. Here, we examine the translational potential of this observation. RICTOR was the most frequently amplified gene observed (~14% patients), and co-amplified with FGF10 and IL7R on chromosome 5p13. RICTOR copy number variation correlated with RICTOR protein expression in SCLC cells...
January 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/27862569/fibroblast-growth-factor-10-markedly-improves-in-vitro-maturation-of-porcine-cumulus-oocyte-complexes
#16
Yeo-Jin Son, Seung-Eun Lee, Hyuk Hyun, Min-Young Shin, Yun-Gwi Park, Sang-Gi Jeong, Eun-Young Kim, Se-Pill Park
Growth factors synthesized by ovarian somatic cells affect cumulus cell expansion and oocyte maturation in vitro. Fibroblast growth factor 10 (FGF10), for example, is a known regulator of mammalian cumulus-oocyte complex maturation. In this study, we investigated the effects of 0, 5, 10, 50, and 100 ng/mL FGF10 (5F, 10F, 50F, and 100F, respectively) on in vitro cumulus cell expansion, oocyte maturation, and embryo development. The percentage of fully expanded cumulus cells at the oocyte's metaphase-II (MII) stage was significantly higher in the 10F-treated group than in the control...
November 11, 2016: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/27833996/expression-of-t-box-transcription-factors-2-4-and-5-is-decreased-in-the-branching-airway-mesenchyme-of-nitrofen-induced-hypoplastic-lungs
#17
Toshiaki Takahashi, Florian Friedmacher, Julia Zimmer, Prem Puri
PURPOSE: Pulmonary hypoplasia (PH), characterized by smaller lung size and reduced airway branching, remains a major therapeutic challenge in newborns with congenital diaphragmatic hernia (CDH). T-box transcription factors (Tbx) have been identified as key components of the gene network that regulates fetal lung development. Tbx2, Tbx4 and Tbx5 are expressed throughout the mesenchyme of the developing lung, regulating the process of lung branching morphogenesis. Furthermore, lungs of Tbx2-, Tbx4- and Tbx5-deficient mice are hypoplastic and exhibit decreased lung branching, similar to PH in human CDH...
February 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/27826253/multiple-cranial-organ-defects-after-conditionally-knocking-out-fgf10-in-the-neural-crest
#18
Tathyane H N Teshima, Silvia V Lourenco, Abigail S Tucker
Fgf10 is necessary for the development of a number of organs that fail to develop or are reduced in size in the null mutant. Here we have knocked out Fgf10 specifically in the neural crest driven by Wnt1cre. The Wnt1creFgf10fl/fl mouse phenocopies many of the null mutant defects, including cleft palate, loss of salivary glands, and ocular glands, highlighting the neural crest origin of the Fgf10 expressing mesenchyme surrounding these organs. In contrast tissues such as the limbs and lungs, where Fgf10 is expressed by the surrounding mesoderm, were unaffected, as was the pituitary gland where Fgf10 is expressed by the neuroepithelium...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27803896/roles-of-fgf-signals-in-heart-development-health-and-disease
#19
REVIEW
Nobuyuki Itoh, Hiroya Ohta, Yoshiaki Nakayama, Morichika Konishi
The heart provides the body with oxygen and nutrients and assists in the removal of metabolic waste through the blood vessels of the circulatory system. It is the first organ to form during embryonic morphogenesis. FGFs with diverse functions in development, health, and disease are signaling proteins, mostly as paracrine growth factors or endocrine hormones. The human/mouse FGF family comprises 22 members. Findings obtained from mouse models and human diseases with FGF signaling disorders have indicated that several FGFs are involved in heart development, health, and disease...
2016: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/27787597/stromal-factors-involved-in-human-prostate-cancer-development-progression-and-castration-resistance
#20
Noemi Eiro, Jesus Fernandez-Gomez, Raquel Sacristán, Belen Fernandez-Garcia, Beatriz Lobo, Jorge Gonzalez-Suarez, Alejandro Quintas, Safwan Escaf, Francisco J Vizoso
PURPOSE: To detect new predictive markers from the prostate cancer tissue, to study the expression by cultured cancer-associated fibroblasts (CAFs) of stromal factors implicated in prostate carcinogenesis, and to compare their expressions in localized, metastatic, castration-sensitive (CSCP), castration-resistant prostate tumors (CRCP) as well as in fibroblasts from benign prostatic hyperplasia (BPH). MATERIALS AND METHODS: The genomic expression of 20 stroma-derived factors, including the androgen receptor (AR), growth factors (FGF2, FGF7, FGF10, HGF, TGFβ, PDGFB), protein implicated in invasion (MMP-2, MMP-9 and MMP-11), inflammation (IL-6, IL-17, STAT-3 and NFκB), stroma/epithelium interaction (CDH11, FAP, CXCL12 and CXCL14) and chaperones (HPA1A and HSF1), was evaluated in cultured fibroblasts both from BHP and prostate carcinomas (PCa)...
February 2017: Journal of Cancer Research and Clinical Oncology
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