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https://www.readbyqxmd.com/read/28811300/epigenetic-regulation-by-the-menin-pathway
#1
Zijie Feng, Jian Ma, Xianxin Hua
There is a trend of increasing prevalence of neuroendocrine tumors (NETs), and the inherited multiple endocrine neoplasia type 1 (MEN1) syndrome serves as a genetic model to investigate how NETs develop and the underlying mechanisms. Menin, encoded by the MEN1 gene, at least partly acts as a scaffold protein by interacting with multiple partners to regulate cellular homeostasis of various endocrine organs. Menin has multiple functions including regulating several important signaling pathways by controlling gene transcription...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811299/twenty-years-of-menin-emerging-opportunities-for-restoration-of-transcription-in-men1
#2
Koen M A Dreijerink, Marc Timmers, Myles Brown
Since the discovery of the multiple endocrine neoplasia type 1 (MEN1) gene in 1997, elucidation of the molecular function of its protein product, menin, has been a challenge. Biochemical, proteomics, genetics and genomics approaches have identified various potential roles, which converge on gene expression regulation. The most consistent findings show that menin connects transcription factors and chromatin modifying enzymes, in particular the histone H3K4 methyltransferase complexes MLL1 and MLL2. Chromatin immunoprecipitation combined with next generation sequencing has enabled studying genome-wide dynamics of chromatin binding by menin...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811298/the-future-surgical-advances-in-men1-therapeutic-approaches-and-management-strategies
#3
Samira Mercedes Sadowski, Guillaume Cadiot, Eric Dansin, Pierre Goudet, Frédéric Triponez
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary autosomal dominant disorder associated with numerous neuroendocrine tumors (NETs). Recent advances in the management of MEN1 have led to a decrease in mortality due to excess hormones; however, they have also led to an increase in mortality from malignancy, particularly NETs. The main challenges are to localize these tumors, to select those that need therapy because of the risk of aggressive behavior, and to select the appropriate therapy associated with minimal morbidity...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811081/prognostic-value-of-who-grade-in-pancreatic-neuro-endocrine-tumors-in-multiple-endocrine-neoplasia-type-1-results-from-the-dutchmen1-study-group
#4
Elfi B Conemans, Lodewijk A A Brosens, Gabriela M Raicu-Ionita, Carolina R C Pieterman, Wouter W de Herder, Olaf M Dekkers, Ad R Hermus, Anouk N van der Horst-Schrivers, Peter H Bisschop, Bas Havekes, Madeleine L Drent, H Th Marc Timmers, G Johan Offerhaus, Gerlof D Valk, Menno R Vriens
BACKGROUND: The prognostic value of WHO grade in pancreatic neuroendocrine tumors (PanNETs) in patients with Multiple Endocrine Neoplasia Type 1 (MEN1) is unknown. METHODS: We performed a cohort study using the Dutch National MEN1 database, which includes >90% of the Dutch MEN1 population with data collected between 1990 and 2014. Formalin-fixed paraffin embedded tissue blocks from the largest resected PanNET per patient were collected. MIB1 staining was performed and KI67 labeling index (LI) was determined by manual eye-counting under a microscope and by digital image analysis...
July 31, 2017: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
https://www.readbyqxmd.com/read/28803964/tgf%C3%AE-smad-signalling-modulates-mll-and-mll-af4-mediated-5-lipoxygenase-promoter-activation
#5
Meike J Saul, Florian Groher, Anett B Hegewald, Michaela Müller-McNicoll, Rolf Marschalek, Beatrix Suess, Dieter Steinhilber
5-Lipoxygenase (5-LO) catalyzes the initial two steps of the conversion of arachidonic acid to leukotrienes which represent a group of pro-inflammatory lipid mediators involved in immune defense reactions as well as inflammation, allergy and cancer. Transforming growth factor-β (TGFβ) and calcitriol strongly upregulate 5-LO expression during myeloid cell differentiation and MLL-AF4 has been shown to strongly activate the 5-LO promoter. Here, we investigated the role of TGFβ/SMAD signalling in 5-LO promoter activation...
August 10, 2017: Prostaglandins & Other Lipid Mediators
https://www.readbyqxmd.com/read/28790162/the-future-diagnostic-and-imaging-advances-in-men1-therapeutic-approaches-and-management-strategies
#6
Jerena Manoharan, Max B Albers, Detlef K Bartsch
Prospective randomized data are lacking, but current clinical expert guidelines recommend annual screening examinations, including laboratory assessments and various imaging modalities (e.g. CT, MRI, scintigraphy and EUS) for patients with multiple endocrine neoplasia type 1 (MEN1). Routine screening is proposed to detect and localize neuroendocrine manifestations as early as possible. The goal is timely intervention to improve quality of life and to increase life expectancy by preventing the development of life threatening hormonal syndromes and/or metastatic disease...
August 8, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28782520/direct-interaction-of-menin-leads-to-ubiquitin-proteasomal-degradation-of-%C3%AE-catenin
#7
Byungho Kim, Tae-Yang Song, Kwan Young Jung, Seul Gi Kim, Eun-Jung Cho
Menin, encoded by the multiple endocrine neoplasia type 1 (MEN1) gene, is a tumor suppressor and transcription regulator. Menin interacts with various proteins as a scaffold protein and is proposed to play important roles in multiple physiological and pathological processes by controlling gene expression, proliferation, and apoptosis. The mechanisms underlying menin's suppression of tumorigenesis are largely elusive. In this study, we showed that menin was essential for the regulation of canonical Wnt/β-catenin signaling in cultured cells...
August 3, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28768698/the-future-advances-in-therapeutic-approach-and-management-strategies-for-men1
#8
Rachel S van Leeuwaarde, Joanne M de Laat, Carolina R C Pieterman, Koen M A Dreijerink, Menno Vriens, Gerlof D Valk
Multiple endocrine neoplasia type 1 is a rare autosomal inherited disorder associated with a high risk for patients to simultaneously develop tumours of the parathyroid glands, duodeno-pancreatic neuroendocrine tumors and tumors of the anterior pituitary gland. Early identification of MEN1 in patients enables presymptomatic screening of manifestations which makes timely interventions possible with the intention to prevent morbidity and mortality. Causes of death nowadays have shifted towards local or metastatic progression of malignant neuro endocrine tumors...
August 2, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28764742/pancreatic-gangliocytic-paraganglioma-harboring-lymph-node-metastasis-a-case-report-and-literature-review
#9
Keisuke Nonaka, Yoko Matsuda, Akira Okaniwa, Atsuko Kasajima, Hironobu Sasano, Tomio Arai
BACKGROUND: Gangliocytic paraganglioma (GP) is a rare neuroendocrine neoplasm, which occurs mostly in the periampullary portion of the duodenum; the majority of the reported cases of duodenal GP has been of benign nature with a low incidence of regional lymph node metastasis. GP arising from the pancreas is extremely rare. To date, only three cases have been reported and its clinical characteristics are largely unknown. CASE PRESENTATION: A nodule located in the pancreatic head was incidentally detected in an asymptomatic 68-year-old woman...
August 2, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28743793/animal-models-of-men-1
#10
Hermine Mohr, Natalia S Pellegata
Animal models of cancer have been instrumental in advancing our understanding of the biology of tumor initiation and progression, in studying gene function, and in performing preclinical studies aimed at testing novel therapies. Several animal models of the MEN1 syndrome have been generated in different organisms by introducing loss-of-function mutations in the orthologues of the human MEN1 gene. In this review, we will discuss MEN1 and MEN1-like models in Drosophila, mice and rats. These model systems with their specific advantages and limitations have contributed to elucidate the function of Menin in tumorigenesis, which turned out to be remarkably conserved from flies to mammals, as well as the biology of the disease...
July 25, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28736585/late-onset-asymptomatic-pancreatic-neuroendocrine-tumor-a-case-report-on-the-phenotypic-expansion-for-men1
#11
Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, Jessica Jackson, Eric W Klee, Stephanie L Hines, John A Stauffer, Paldeep S Atwal
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidism affects the majority of MEN1 individuals by age 50 years. Additionally, MEN1 mutations trigger familial isolated hyperparathyroidism. We describe a seemingly unaffected 76-year-old female who presented to our Genetics Clinic with a family history of primary hyperparathyroidism and the identification of a pathogenic MEN1 variant...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28733468/management-impact-effects-on-quality-of-life-and-prognosis-in-men1
#12
Francesca Marini, Francesca Giusti, Francesco Tonelli, Maria Luisa Brandi
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumor syndrome, caused by inactivating mutations of the MEN1 tumor suppressor gene at 11q13 locus, which predisposes to develop tumors in target neuroendocrine tissues. Since the positional cloning and identification of the causative gene in 1997, genetic diagnosis, by the sequencing-based research of gene mutations, has become an important tool in the early and differential diagnosis of the disease. Application of the genetic test, in MEN1 index cases and in first degree relatives of mutated patients, has been constantly increasing during the last two decades, also thanks to the establishment of multidisciplinary referral centers and specific genetic counselling, and thanks to the wide availability of high throughput instruments for gene sequencing and gene mutation identification...
July 21, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28722204/loss-of-the-tumor-suppressor-gene-aip-mediates-the-browning-of-human-brown-fat-tumors
#13
Linda Magnusson, Nils Hansen, Karim H Saba, Jenny Nilsson, Thoas Fioretos, Pehr Rissler, Karolin H Nord
Human brown fat tumors (hibernomas) display concomitant loss of the tumor suppressor genes MEN1 and AIP. In the present study, we hypothesized that the brown fat phenotype is attributed to these mutations. Accordingly, we demonstrate that silencing of AIP in human brown preadipocytic and white fat cell lines results in the induction of the brown fat marker UCP1. In human adipocytic tumors, loss of MEN1 was found both in white (one out of 51 lipomas) and brown fat tumors. In contrast, concurrent loss of AIP was always accompanied by a brown fat morphology...
July 19, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28710500/men1-menin-regulates-milk-protein-synthesis-through-mtor-signaling-in-mammary-epithelial-cells
#14
Honghui Li, Xue Liu, Zhonghua Wang, Xueyan Lin, Zhengui Yan, Qiaoqiao Cao, Meng Zhao, Kerong Shi
The MEN1 gene, which encodes the protein Menin, was investigated for its regulatory role in milk protein synthesis in mammary glands. Menin responds to nutrient and hormone levels via the PI3K/Akt/mTOR pathway. Bovine mammary epithelial cells and tissues were used as experimental models in this study. The results revealed that the milk protein synthesis capacity of mammary epithelial cells could be regulated by MEN1/Menin. The overexpression of Menin caused significant suppression of factors involved in the mTOR pathway, as well as milk protein κ-casein (CSNK)...
July 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28706137/assessment-of-pancreatic-neuroendocrine-tumor-cytologic-genotype-diversity-to-guide-personalized-medicine-using-a-custom-gastroenteropancreatic-next-generation-sequencing-panel
#15
Ferga C Gleeson, Jesse S Voss, Benjamin R Kipp, Sarah E Kerr, John S Van Arnam, John R Mills, Cherisse A Marcou, Amber R Schneider, Zheng Jin Tu, Michael R Henry, Michael J Levy
BACKGROUND: Recent genetic studies have highlighted that alterations in MEN1, chromatin remodeling genes, and mammalian target of rapamycin (mTOR) pathway genes are the most frequent molecular events identified in pancreas neuroendocrine tumors (pNETs). The prognostic or predictive impact of these biomarkers and other less frequently observed aberrations, i.e. PTEN, TSC2 and PIK3CA are relatively unknown. The aims of this targeted next generation sequencing (NGS) study were to assess tumor cytology genotype diversity, to survey for potential adverse prognostic biomarkers and the prevalence of mTOR pathway variants...
June 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28701629/atypical-pituitary-adenoma-with-men1-somatic-mutation-associated-with-abnormalities-of-dna-mismatch-repair-genes-mlh1-germline-mutation-and-msh6-somatic-mutation
#16
Shinsuke Uraki, Hiroyuki Ariyasu, Asako Doi, Hiroto Furuta, Masahiro Nishi, Kokichi Sugano, Naoko Inoshita, Naoyuki Nakao, Shozo Yamada, Takashi Akamizu
The mechanism of pituitary tumorigenesis remains largely unknown. Lynch syndrome is an autosomal, dominantly inherited syndrome caused by a defective mismatch repair (MMR) mechanism involved in the development of various tumors at an early age. In this case study, we showed the occurrence of pituitary tumors associated with Lynch syndrome for the first time and performed genetic and immunohistochemical analysis to evaluate the genetic aberrations that might be related to the tumorigenesis and proliferation...
July 13, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28695303/a-comparison-of-cosegregation-analysis-methods-for-the-clinical-setting
#17
John Michael O Rañola, Quanhui Liu, Elisabeth A Rosenthal, Brian H Shirts
Quantitative cosegregation analysis can help evaluate the pathogenicity of genetic variants. However, genetics professionals without statistical training often use simple methods, reporting only qualitative findings. We evaluate the potential utility of quantitative cosegregation in the clinical setting by comparing three methods. One thousand pedigrees each were simulated for benign and pathogenic variants in BRCA1 and MLH1 using United States historical demographic data to produce pedigrees similar to those seen in the clinic...
July 10, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28693130/novel-association-of-men1-gene-mutations-with-parathyroid-carcinoma
#18
Luigia Cinque, Angelo Sparaneo, Filomena Cetani, Michelina Coco, Celeste Clemente, Massimiliano Chetta, Teresa Balsamo, Claudia Battista, Eliana Sanpaolo, Elena Pardi, Leonardo D'Agruma, Claudio Marcocci, Evaristo Maiello, Geoffrey N Hendy, David E C Cole, Alfredo Scillitani, Vito Guarnieri
Inactivating mutations of the multiple endocrine neoplasia 1 (MEN1) gene cause MEN1 syndrome, characterized by primary hyperparathyroidism (pHPT), and parathyroid and gastro-entero-pancreatic pituitary tumors. At present, only 14 cases of malignant parathyroid tumor have been associated with the syndrome, with 6 cases carrying an inactivating mutation of the MEN1 gene. The present study presents the case of a 48-year-old female who presented with multigland pHPT and multiple pancreatic lesions. The patient underwent surgery several times for the excision of parathyroid hyperplasia, carcinoma and adenoma...
July 2017: Oncology Letters
https://www.readbyqxmd.com/read/28674121/multiple-endocrine-neoplasia-and-hyperparathyroid-jaw-tumor-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#19
REVIEW
Jonathan D Wasserman, Gail E Tomlinson, Harriet Druker, Junne Kamihara, Wendy K Kohlmann, Christian P Kratz, Katherine L Nathanson, Kristian W Pajtler, Andreu Parareda, Surya P Rednam, Lisa J States, Anita Villani, Michael F Walsh, Kristin Zelley, Joshua D Schiffman
Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the multiple endocrine neoplasia (MEN) syndromes, including MEN1, MEN2A and MEN2B, MEN4, and hyperparathyroid-jaw tumor (HPT-JT) syndromes. Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variants (11q13), MEN2A and MEN2B are due to pathogenic RET variants (10q11.21), MEN4 is due to pathogenic CDKN1B variants (12p13...
July 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28663159/synchronous-solid-pseudopapillary-tumor-and-insulinoma-in-an-adolescent-men1-patient-presenting-with-diagnostic-dilemmas
#20
Ahmet Uçar, Banu Özgüven, Muharrem Battal, Felda Alpaslan, Evrim Özmen, Aylin Yetim, Yasin Yılmaz
Multiple endocrine neoplasia (MEN1) is a rare autosomal dominant disorder characterized by primary hyperparathyroidism, enteropancreatic neuroendocrine tumors, and anterior pituitary adenomas. A 16-year-old male presented to the emergency outpatient clinic with tonic convulsions. Physical examination in the postconvulsive period was unremarkable and revealed a muscular, postpubertal adolescent. Biochemical tests at admission were consistent with hyperinsulinemic hypoglycemia and remarkable for elevated levels of liver transaminases and creatine kinase...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
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