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https://www.readbyqxmd.com/read/28209183/variants-in-congenital-hypogonadotrophic-hypogonadism-genes-identified-in-an-indonesian-cohort-of-46-xy-under-virilised-boys
#1
Katie L Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H Sinclair, Sultana M H Faradz
BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty...
February 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28197342/the-function-of-fgfr1-signalling-in-the-spinal-cord-therapeutic-approaches-using-fgfr1-ligands-after-spinal-cord-injury
#2
REVIEW
Barbara Haenzi, Lawrence D F Moon
Extensive research is ongoing that concentrates on finding therapies to enhance CNS regeneration after spinal cord injury (SCI) and to cure paralysis. This review sheds light on the role of the FGFR pathway in the injured spinal cord and discusses various therapies that use FGFR activating ligands to promote regeneration after SCI. We discuss studies that use peripheral nerve grafts or Schwann cell grafts in combination with FGF1 or FGF2 supplementation. Most of these studies show evidence that these therapies successfully enhance axon regeneration into the graft...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28195315/genetic-testing-facilitates-prepubertal-diagnosis-of-congenital-hypogonadotropic-hypogonadism
#3
Cheng Xu, Mariarosaria Lang-Muritano, Franziska Phan-Hug, Andrew A Dwyer, Gerasimos P Sykiotis, Daniele Cassatella, James Acierno, Moosa Mohammadi, Nelly Pitteloud
Neonatal micropenis and cryptorchidism raise the suspicion of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder caused by GnRH deficiency. Low plasma testosterone levels and low gonadotropins during minipuberty provide a clinical diagnostic clue, yet these tests are seldomly performed in general practice. We report a male neonate with no family history of reproductive disorders who was born with micropenis and cryptorchidism. Hormonal testing at age 2.5 months showed low testosterone (0...
February 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28193689/signaling-by-fgf-receptor-2-not-fgf-receptor-1-regulates-myelin-thickness-through-activation-of-erk1-2-mapk-which-promotes-mtorc1-activity-in-an-akt-independent-manner
#4
M Furusho, A Ishii, R Bansal
FGF signaling has emerged as a significant 'late-stage' regulator of myelin thickness in the CNS, independent of oligodendrocyte differentiation. Therefore, it is critically important to identify the specific FGF-Receptor-type and its downstream signaling molecules in oligodendrocytes to obtain better insights into the regulatory mechanisms of myelin growth. Here, we show that FGF-Receptor-type-2 (FGFR2) is highly enriched at the paranodal loops of myelin. Conditional ablation of this receptor-type, but not FGF-Receptor-type-1 (FGFR1), resulted in attenuation of myelin growth, expression of major myelin genes, key transcription factor Myrf and ERK1/2 activity...
February 13, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28185819/expression-of-polysialic-acid-in-primary-laryngeal-squamous-cell-carcinoma
#5
Marko Klobučar, Sarah Visentin, Antonija Jakovčević, Mario Bilić, Lana Kovač-Bilić, Davorin Đanić, Krešimir Pavelić, Sandra Kraljević Pavelić
AIMS: Expression of polySia is associated with metastatic dissemination and progression of various malignant diseases. In particular, it may contribute to tumorigenesis by a negative modulatory effect on cellular signaling cascades responsible for cellular migration, differentiation and proliferation. In this study, we investigated the expression of polySia in primary metastatic and non-metastatic laryngeal squamous cell carcinoma (LSCC) tumor tissues and its potential impact on the LSCC progression...
February 6, 2017: Life Sciences
https://www.readbyqxmd.com/read/28183331/phase-ii-randomized-placebo-controlled-study-of-dovitinib-in-combination-with-fulvestrant-in-postmenopausal-patients-with-hr-her2-breast-cancer-that-had-progressed-during-or-after-prior-endocrine-therapy
#6
Antonino Musolino, Mario Campone, Patrick Neven, Neelima Denduluri, Carlos H Barrios, Javier Cortes, Kimberly Blackwell, Hatem Soliman, Zsuzsanna Kahan, Hervé Bonnefoi, Matthew Squires, Yong Zhang, Stephanie Deudon, Michael M Shi, Fabrice André
BACKGROUND: Overexpression of fibroblast growth factor receptor 1 (FGFR1), found in ≤8% of hormone receptor-positive (HR(+)), human epidermal growth factor receptor 2-negative (HER2(-)) breast cancer cases, is correlated with decreased overall survival and resistance to endocrine therapy (ET). Dovitinib, a potent FGFR inhibitor, has demonstrated antitumor activity in heavily pretreated patients with FGFR pathway-amplified breast cancer. METHODS: In this randomized, placebo-controlled phase II trial, we evaluated whether the addition of dovitinib to fulvestrant would improve outcomes in postmenopausal patients with HR(+), HER2(-) advanced breast cancer that had progressed during or after prior ET...
February 10, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28178124/anaplastic-thyroid-carcinoma-and-foscarnet-use-in-a-multitarget-treatment-documented-by-18f-fdg-pet-ct-a-case-report
#7
Elisa Giannetta, Andrea M Isidori, Cosimo Durante, Cira Di Gioia, Flavia Longo, Vincenzo Tombolini, Nadia Bulzonetti, Chiara Graziadio, Riccardo Pofi, Daniele Gianfrilli, Antonella Verrienti, Raffaella Carletti, Sebastiano Filetti, Andrea Lenzi, Alberto Baroli
RATIONALE: The case reported the rapid remission of disease recurrence achieved adding foscarnet, a DNA polymerase inhibitor that interacts with fibroblast growth factor 2, to low molecular weight heparin and sunitinib for the first time in a patient with an anaplastic thyroid cancer (ATC). PATIENT CONCERNS: A 65-year-old woman with a multinodular goiter referred for a rapid enlargement of a nodule. Histological examination revealed an ATC with a little area of papillary thyroid cancer (PTC)...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28177947/association-of-li-fraumeni-syndrome-with-small-cell-carcinoma-of-the-ovary-hypercalcemic-type-and-concurrent-pleomorphic-liposarcoma-of-the-cervix
#8
Bevan Tandon, Ian S Hagemann, Horacio M Maluf, John D Pfeifer, Hussam Al-Kateb
Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare, highly lethal malignancy predominantly affecting young adult females. We report a patient with widely metastatic SCCOHT and concurrent uterine cervical pleomorphic liposarcoma. Clinical targeted next-generation sequencing was performed on both neoplasms and demonstrated hemizygous stop-gain TP53 mutations (p.R196*), and wild-type SMARCA4 in both tumors. Microarray analyses of both tumors revealed similar but not identical widespread loss of heterozygosity over most chromosomes associated with loss of chromosomal copy number in the SCCOHT and pleomorphic liposarcoma tumors, amplification of FGFR1 in both tumors, and amplification of MYC in the SCCOHT...
February 7, 2017: International Journal of Gynecological Pathology
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/28161459/peptide-microarray-based-characterization-of-antibody-responses-to-host-proteins-after-bacille-calmette-gu%C3%A3-rin-vaccination
#10
REVIEW
Davide Valentini, Martin Rao, Lalit Rane, Sayma Rahman, Rebecca Axelsson-Robertson, Rainer Heuchel, Matthias Löhr, Daniel Hoft, Susanna Brighenti, Alimuddin Zumla, Markus Maeurer
BACKGROUND: Bacille Calmette-Guérin (BCG) is the world's most widely distributed vaccine, used against tuberculosis (TB), in cancer immunotherapy, and in autoimmune diseases due to its immunomodulatory properties. To date, the effect of BCG vaccination on antibody responses to host proteins has not been reported. High-content peptide microarrays (HCPM) offer a unique opportunity to gauge specific humoral immune responses. METHODS: The sera of BCG-vaccinated healthy adults were tested on a human HCPM platform (4953 randomly selected epitopes of human proteins) to detect specific immunoglobulin gamma (IgG) responses...
February 2, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28149899/uncovering-the-influence-of-the-fgfr1-pathway-on-glioblastoma-radiosensitivity
#11
COMMENT
Karen K Sayal, Geoffrey S Higgins, Ester M Hammond
No abstract text is available yet for this article.
December 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28146284/fgfr1-associated-myeloid-neoplasm-with-increased-mast-cells
#12
Christine G Roth, Mounzer Agha
No abstract text is available yet for this article.
February 1, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28138694/activity-of-fibroblast-growth-factor-receptor-inhibitors-tki258-ponatinib-and-azd4547-against-tpr%C3%A2-fgfr1-fusion
#13
Xu-Hua Qiu, Feng Li, Hong-Qin Cao, Jing-Jing Shao, Jian-Gang Mei, Han-Qing Li, Yong-Ping Zhai
8p11 myeloproliferative syndrome (EMS) is a rare disease characterized by the constitutive activation of fibroblast growth factor receptor 1 (FGFR1). To date, four cases of EMS with the chromosomal translocation, t(1;8)(q25;p11.2), have been reported. In the present study, TPR‑FGFR1‑expressing Baf3 cells were established and confirmed by polymerase chain reaction. To identify the most promising drug for EMS, the activities and associated mechanism of three tyrosine kinase inhibitors (TKIs), TKI258, ponatinib and AZD4547, against TPR‑FGFR1 were tested by MTT assay, flow cytometry and western blot...
January 24, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28133136/-a-case-of-metastatic-colon-cancer-dramatically-affected-by-anti-egfr-antibody-therapy
#14
Ryoma Yagi, Yoshifumi Shimada, Kohei Miura, Yosuke Tajima, Takuma Okamura, Masato Nakano, Hiroshi Ichikawa, Masayuki Nagahashi, Jun Sakata, Takashi Kobayashi, Hitoshi Kameyama, Toshifumi Wakai, Hitoshi Nogami, Satoshi Maruyama, Yasumasa Takii
RAS mutation is an established predictive biomarker of resistance to anti-epidermal growth factor receptor(EGFR)therapy in metastatic colorectal cancer. In addition, previous studies identified mutations in ERBB2, FGFR1, PDGFRA, BRAF, MAP2K1, PTEN, and PIK3CA as potential mechanisms of resistance to anti-EGFR therapy. Testing for these mutations might be necessary to determine eligibility for anti-EGFR therapy in patients with metastatic colorectal cancer. CancerPlex®is a nextgeneration sequencer for 413 cancer genes...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28129408/contribution-of-fgfr1-variants-to-craniofacial-variations-in-east-asians
#15
Mohamed Adel, Tetsutaro Yamaguchi, Daisuke Tomita, Takatoshi Nakawaki, Yong-Il Kim, Yu Hikita, Shugo Haga, Masahiro Takahashi, Mohamed A Nadim, Akira Kawaguchi, Mutsumi Isa, Walid H El-Kenany, Abbadi A El-Kadi, Soo-Byung Park, Hajime Ishida, Koutaro Maki, Ryosuke Kimura
FGFR1 plays an important role in the development of the nervous system as well as the regulation of the skeletal development and bone homeostasis. Mutations in FGFR1 genes affect skull development, specifically suture and synchondrosis, resulting in craniosynostosis and facial abnormalities. We examined subjects with normal skull morphology for genetic polymorphisms that might be associated with normal craniofacial variations. Genomic DNA was obtained from 216 Japanese and 227 Korean subjects. Four FGFR1 SNPs, namely, rs881301, rs6996321, rs4647905, and rs13317, were genotyped...
2017: PloS One
https://www.readbyqxmd.com/read/28125801/genome-wide-copy-number-aberrations-and-her2-and-fgfr1-alterations-in-primary-breast-cancer-by-molecular-inversion-probe-microarray
#16
Hui Chen, Rajesh R Singh, Xinyan Lu, Lei Huo, Hui Yao, Kenneth Aldape, Ronald Abraham, Shumaila Virani, Meenakshi Mehrotra, Bal Mukund Mishra, Alex Bousamra, Constance Albarracin, Yun Wu, Sinchita Roy-Chowdhuri, Rashmi Kanagal Shamanna, Mark J Routbort, L Jeffrey Medeiros, Keyur P Patel, Russell Broaddus, Aysegul Sahin, Rajyalakshmi Luthra
Breast cancer remains the second leading cause of cancer-related death in women despite stratification based on standard hormonal receptor (HR) and HER2 testing. Additional prognostic markers are needed to improve breast cancer treatment. Chromothripsis, a catastrophic genome rearrangement, has been described recently in various cancer genomes and affects cancer progression and prognosis. However, little is known about chromothripsis in breast cancer. To identify novel prognostic biomarkers in breast cancer, we used molecular inversion probe (MIP) microarray to explore genome-wide copy number aberrations (CNA) and breast cancer-related gene alterations in DNA extracted from formalin-fixed paraffin-embedded tissue...
January 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28117910/oligodendroglial-fibroblast-growth-factor-receptor-1-gene-targeting-protects-mice-from-experimental-autoimmune-encephalomyelitis-through-erk-akt-phosphorylation
#17
Ranjithkumar Rajendran, Mario Giraldo Velásquez, Christine Stadelmann, Martin Berghoff
Fibroblast growth factors (FGFs) exert diverse biological effects by binding and activation of specific fibroblast growth factor receptors (FGFRs). FGFs and FGFRs have been implicated in demyelinating pathologies including multiple sclerosis. In vitro activation of the FGF2/FGFR1 pathway results in downregulation of myelin proteins. FGF1, 2 and 9 have been shown to be involved in the pathology of multiple sclerosis. Recent studies on the function of oligodendroglial FGFR1 in a model of toxic demyelination showed that deletion of FGFR1 led to increased remyelination and preservation of axonal density and an increased number of mature oligodendrocytes...
January 24, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28116419/-expression-and-localization-of-fgfr-family-in-squamous-cell-carcinoma-of-head-and-neck
#18
Chao-Ji Shi, Rong Zhou, Yong Han, Wen-Jie Tao, Shu-Yang Sun, Zhi-Yuan Zhang
PURPOSE: To investigate the expression and localization of FGFR family in squamous cell carcinoma of head and neck (SCCHN) cell lines. METHODS: Total protein was extracted from 10 SCCHN cell lines and the expression of FGFR was detected by Western blot. The localization of FGFR was further demonstrated by immunofluorescence staining in SCC25 and HN4 cell lines. Gray value was measured by Image J. GraphPad Prism 5.01 software package was used for data processing and analysis...
October 2016: Shanghai Kou Qiang Yi Xue, Shanghai Journal of Stomatology
https://www.readbyqxmd.com/read/28107390/melanoma-cell-adhesion-and-migration-is-modulated-by-the-uronyl-2-o-sulfotransferase
#19
Katerina Nikolovska, Dorothe Spillmann, Jörg Haier, Andrea Ladányi, Christian Stock, Daniela G Seidler
Although the vast majority of melanomas are characterized by a high metastatic potential, if detected early, melanoma can have a good prognostic outcome. However, once metastasised, the prognosis is bleak. We showed previously that uronyl-2-O sulfotransferase (Ust) and 2-O sulfation of chondroitin/dermatan sulfate (CS/DS) are involved in cell migration. To demonstrate an impact of 2-O sulfation in metastasis we knocked-down Ust in mouse melanoma cells. This significantly reduced the amount of Ust protein and enzyme activity...
2017: PloS One
https://www.readbyqxmd.com/read/28104717/clinical-targeted-exome-based-sequencing-in-combination-with-genome-wide-copy-number-profiling-precision-medicine-analysis-of-203-pediatric-brain-tumors
#20
Shakti H Ramkissoon, Pratiti Bandopadhayay, Jaeho Hwang, Lori A Ramkissoon, Noah F Greenwald, Steven E Schumacher, Ryan O'Rourke, Nathan Pinches, Patricia Ho, Hayley Malkin, Claire Sinai, Mariella Filbin, Ashley Plant, Wenya Linda Bi, Michael S Chang, Edward Yang, Karen D Wright, Peter E Manley, Matthew Ducar, Sanda Alexandrescu, Hart Lidov, Ivana Delalle, Liliana C Goumnerova, Alanna J Church, Katherine A Janeway, Marian H Harris, Laura E MacConaill, Rebecca D Folkerth, Neal I Lindeman, Charles D Stiles, Mark W Kieran, Azra H Ligon, Sandro Santagata, Adrian M Dubuc, Susan N Chi, Rameen Beroukhim, Keith L Ligon
BACKGROUND: Clinical genomics platforms are needed to identify targetable alterations, but implementation of these technologies and best practices in routine clinical pediatric oncology practice are not yet well established. METHODS: Profile is an institution-wide prospective clinical research initiative that uses targeted sequencing to identify targetable alterations in tumors. OncoPanel, a multiplexed targeted exome-sequencing platform that includes 300 cancer-causing genes, was used to assess single nucleotide variants and rearrangements/indels...
January 19, 2017: Neuro-oncology
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