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https://www.readbyqxmd.com/read/29365323/prognostic-tumor-sequencing-panels-frequently-identify-germ-line-variants-associated-with-hereditary-hematopoietic-malignancies
#1
Michael W Drazer, Sabah Kadri, Madina Sukhanova, Sushant A Patil, Allison H West, Simone Feurstein, Dalein A Calderon, Matthew F Jones, Caroline M Weipert, Christopher K Daugherty, Adrián A Ceballos-López, Gordana Raca, Mark W Lingen, Zejuan Li, Jeremy P Segal, Jane E Churpek, Lucy A Godley
Next-generation sequencing (NGS)-based targeted gene capture panels are used to profile hematopoietic malignancies to guide prognostication and treatment decisions. Because these panels include genes associated with hereditary hematopoietic malignancies (HHMs), we hypothesized that these panels could identify pathogenic germ line variants in malignant cells, thereby identifying patients at risk for HHMs. In total, pathogenic or likely pathogenic variants in ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, or TP53 were identified in 74 (21%) of 360 patients...
January 23, 2018: Blood Advances
https://www.readbyqxmd.com/read/29222283/hereditary-thrombocytopenias-a-growing-list-of-disorders
#2
REVIEW
Patrizia Noris, Alessandro Pecci
The introduction of high throughput sequencing (HTS) techniques greatly improved the knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different forms caused by molecular defects affecting at least 32 genes have been identified; along with the discovery of new disease-causing genes, pathogenetic mechanisms of thrombocytopenia have been better elucidated. Although the clinical picture of ITs is heterogeneous, bleeding has been long considered the major clinical problem for patients with IT...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29185836/exome-chip-meta-analysis-identifies-association-between-variation-in-ankrd26-and-platelet-aggregation
#3
Ming-Huei Chen, Lisa R Yanek, Joshua D Backman, John D Eicher, Jennifer E Huffman, Yoav Ben-Shlomo, Andrew D Beswick, Laura M Yerges-Armstrong, Alan R Shuldiner, Jeffrey R O'Connell, Rasika A Mathias, Diane M Becker, Lewis C Becker, Joshua P Lewis, Andrew D Johnson, Nauder Faraday
Previous genome-wide association studies (GWAS) have identified several variants associated with platelet function phenotypes; however, the proportion of variance explained by the identified variants is mostly small. Rare coding variants, particularly those with high potential for impact on protein structure/function, may have substantial impact on phenotype but are difficult to detect by GWAS. The main purpose of this study was to identify low frequency or rare variants associated with platelet function using genotype data from the Illumina HumanExome Bead Chip...
November 29, 2017: Platelets
https://www.readbyqxmd.com/read/28976612/inherited-thrombocytopenia-caused-by-ankrd26-mutations-misdiagnosed-and-treated-as-myelodysplastic-syndrome-report-on-two-cases
#4
C Zaninetti, V Santini, M Tiniakou, S Barozzi, A Savoia, A Pecci
Essentials Thrombocytopenia 2 (THC2) is an inherited thrombocytopenia (IT) with dysmegakaryopoiesis. Physicians often do not suspect the genetic origin of thrombocytopenia in patients with THC2. We report two THC2 patients misdiagnosed with myelodysplasia and treated with chemotherapy. IT should be always considered in patients with isolated thrombocytopenia and dysmegakaryopoiesis. SUMMARY: Thrombocytopenia 2 (THC2) is an autosomal-dominant disorder caused by point substitutions in the 5'UTR of the ANKRD26 gene...
October 4, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28921865/extramedullary-hematopoiesis-a-new-feature-of-inherited-thrombocytopenias
#5
C Zaninetti, F Melazzini, G A Croci, E Boveri, C L Balduini
Essentials Extramedullary hematopoiesis (EMH) represents a pathologic finding in adult life. We report a mass-like EMH in the presacral space in a patient with ANKRD26-related thrombocytopenia. We found possible correlation between EMH and conditions causing lifelong thrombocytopenia. EMH can cause masses of unknown origin in patients with inherited thrombocytopenias. SUMMARY: Most commonly located in the liver and spleen, extramedullary hematopoiesis (EMH) is the presence of hematopoietic tissue outside the bone marrow...
November 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28698781/idiopathic-pulmonary-embolism-in-a-case-of-severe-family-ankrd26-thrombocytopenia
#6
Jerome Guison, Gilles Blaison, Oana Stoica, Remy Hurstel, Marie Favier, Remy Favier
Venous thrombosis affecting thrombocytopenic patients is challenging. We report the case of a woman affected by deep vein thrombosis and pulmonary embolism in a thrombocytopenic context leading to the discovery of a heterozygous mutation in the gene encoding ankyrin repeat domain 26 (ANKRD26) associated with a heterozygous factor V (FV) Leiden mutation. This woman was diagnosed with lower-limb deep vein thrombosis complicated by pulmonary embolism. Severe thrombocytopenia was observed. The genetic study evidenced a heterozygous FV Leiden mutation...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28594466/bleeding-is-not-the-main-clinical-issue-in-many-patients-with-inherited-thrombocytopaenias
#7
REVIEW
F Melazzini, C Zaninetti, C L Balduini
Bleeding diathesis has been considered for a long time the main clinical issue impacting the lives of patients affected by inherited thrombocytopaenias. However, the number of known inherited thrombocytopaenias greatly increased in recent years, and careful evaluation of hundreds of patients affected by these 'new' disorders revealed that most of them are at risk of developing additional life-threatening disorders during childhood or adult life. These additional disorders are usually more serious and dangerous than low platelet count...
June 8, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28555414/germline-etv6-mutations-and-predisposition-to-hematological-malignancies
#8
REVIEW
Simone Feurstein, Lucy A Godley
Patients with thrombocytopenia 5 have an autosomal dominant disorder of decreased platelet number with tendency to bleed, usually presenting in childhood, and have been found to have germline mutations in ETV6, which encodes a master hematopoietic transcription factor. Some patients who present similarly have inherited mutations in RUNX1 or ANKRD26. All three germline syndromes are also associated with a predisposition to myelodysplastic syndrome (MDS) and acute leukemia (AL). Since the first description of germline ETV6 mutations, 18 families have been reported...
August 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28357685/familial-acute-myeloid-leukemia-and-myelodysplasia-in-hungary
#9
Attila Péter Király, Krisztián Kállay, Ambrus Gángó, Ádám Kellner, Miklós Egyed, Anita Szőke, Richárd Kiss, István Vályi-Nagy, Judit Csomor, András Matolcsy, Csaba Bödör
Although genetic predisposition to haematological malignancies has long been known, genetic testing is not yet the part of the routine diagnostics. In the last ten years, next generation sequencing based studies identified novel germline mutations in the background of familial aggregation of certain haematologic disorders including myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML). This is supported by the fact that the myeloid neoplasms with genetic predisposition represent a new category in the revised 2016 World Health Organization classification...
March 29, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28277066/spectrum-of-5-utr-mutations-in-ankrd26-gene-in-patients-with-inherited-thrombocytopenia-c-140c-g-mutation-is-more-frequent-than-expected
#10
Silvia Ferrari, Anna Maria Lombardi, Maria Caterina Putti, Antonella Bertomoro, Irene Cortella, Isabella Barzon, Antonio Girolami, Fabrizio Fabris
No abstract text is available yet for this article.
September 2017: Platelets
https://www.readbyqxmd.com/read/28266632/specific-cpg-hyper-methylation-leads-to-ankrd26-gene-down-regulation-in-white-adipose-tissue-of-a-mouse-model-of-diet-induced-obesity
#11
Gregory A Raciti, Rosa Spinelli, Antonella Desiderio, Michele Longo, Luca Parrillo, Cecilia Nigro, Vittoria D'Esposito, Paola Mirra, Francesca Fiory, Vincenzo Pilone, Pietro Forestieri, Pietro Formisano, Ira Pastan, Claudia Miele, Francesco Beguinot
Epigenetic modifications alter transcriptional activity and contribute to the effects of environment on the individual risk of obesity and Type 2 Diabetes (T2D). Here, we have estimated the in vivo effect of a fat-enriched diet (HFD) on the expression and the epigenetic regulation of the Ankyrin repeat domain 26 (Ankrd26) gene, which is associated with the onset of these disorders. In visceral adipose tissue (VAT), HFD exposure determined a specific hyper-methylation of Ankrd26 promoter at the -436 and -431 bp CpG sites (CpGs) and impaired its expression...
March 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28187360/de-novo-assembly-of-the-ringed-seal-pusa-hispida-blubber-transcriptome-a-tool-that-enables-identification-of-molecular-health-indicators-associated-with-pcb-exposure
#12
Tanya M Brown, S Austin Hammond, Bahar Behsaz, Nik Veldhoen, Inanç Birol, Caren C Helbing
The ringed seal, Pusa hispida, is a keystone species in the Arctic marine ecosystem, and is proving a useful marine mammal for linking polychlorinated biphenyl (PCB) exposure to toxic injury. We report here the first de novo assembled transcriptome for the ringed seal (342,863 transcripts, of which 53% were annotated), which we then applied to a population of ringed seals exposed to a local PCB source in Arctic Labrador, Canada. We found an indication of energy metabolism imbalance in local ringed seals (n=4), and identified five significant gene transcript targets: plasminogen receptor (Plg-R(KT)), solute carrier family 25 member 43 receptor (Slc25a43), ankyrin repeat domain-containing protein 26-like receptor (Ankrd26), HIS30 (not yet annotated) and HIS16 (not yet annotated) that may represent indicators of PCB exposure and effects in marine mammals...
April 2017: Aquatic Toxicology
https://www.readbyqxmd.com/read/28059092/bone-marrow-morphology-and-disease-progression-in-congenital-thrombocytopenia-a-detailed-clinicopathologic-and-genetic-study-of-eight-cases
#13
Hamilton C Tsang, James B Bussel, Susan Mathew, Yen-Chun Liu, Allison A Imahiyerobo, Attilio Orazi, Julia T Geyer
Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed...
April 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28032520/differential-expression-of-sdf-1-receptor-cxcr4-in-molecularly-defined-forms-of-inherited-thrombocytopenias
#14
Juan P Salim, Ana C Glembotsky, Paola R Lev, Cecilia P Marin Oyarzún, Nora P Goette, Felisa C Molinas, Rosana F Marta, Paula G Heller
The SDF-1-CXCR4 axis plays an essential role in the regulation of platelet production, by directing megakaryocyte (MK) migration toward the vascular niche, thus allowing terminal maturation and proplatelet formation, and also regulates platelet function in an autocrine manner. Inherited thrombocytopenias (IT) comprise a spectrum of diverse clinical conditions caused by mutations in genes involved in platelet production and function. We assessed CXCR4 expression and SDF-1 levels in a panel of well-characterized forms of IT...
September 2017: Platelets
https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#15
REVIEW
Christopher C Porter
Several genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes. Also, in the last several years, a number of other germ line mutations have been discovered to define new leukemia predisposition syndromes, including ANKRD26, GATA2, PAX5, ETV6, and DDX41 In addition, data suggest that a substantial proportion of patients with therapy related leukemias harbor germ line mutations in DNA damage response genes such as BRCA1/2 and TP53 Recognition of clinical associations, acquisition of a thorough family history, and high index-of-suspicion are critical in the diagnosis of these leukemia predisposition syndromes...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27819178/myelodysplastic-syndromes-and-acute-leukemia-with-genetic-predispositions-a-new-challenge-for-hematologists
#16
REVIEW
Nicolas Duployez, Sophie Lejeune, Aline Renneville, Claude Preudhomme
The determination of an underlying genetic predisposition is not automatically part of the diagnosis of hematological malignancies (HM) in routine practice. However, it is assumed that genetic predispositions to HM are currently underestimated due to great variations in disease phenotype, variable latency and incomplete penetrance. Most of patients do not display any biological or clinical signs besides the overt hematological disease and many of them have a lack of personal or family history of malignancies...
December 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27790247/pleiotropic-meta-analyses-of-longitudinal-studies-discover-novel-genetic-variants-associated-with-age-related-diseases
#17
Liang He, Yelena Kernogitski, Irina Kulminskaya, Yury Loika, Konstantin G Arbeev, Elena Loiko, Olivia Bagley, Matt Duan, Arseniy Yashkin, Svetlana V Ukraintseva, Mikhail Kovtun, Anatoliy I Yashin, Alexander M Kulminski
Age-related diseases may result from shared biological mechanisms in intrinsic processes of aging. Genetic effects on age-related diseases are often modulated by environmental factors due to their little contribution to fitness or are mediated through certain endophenotypes. Identification of genetic variants with pleiotropic effects on both common complex diseases and endophenotypes may reveal potential conflicting evolutionary pressures and deliver new insights into shared genetic contribution to healthspan and lifespan...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27365488/clinical-and-pathogenic-features-of-etv6-related-thrombocytopenia-with-predisposition-to-acute-lymphoblastic-leukemia
#18
Federica Melazzini, Flavia Palombo, Alessandra Balduini, Daniela De Rocco, Caterina Marconi, Patrizia Noris, Chiara Gnan, Tommaso Pippucci, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Michael Doubek, Christian A Di Buduo, Katerina Stano Kozubik, Lenka Radova, Giuseppe Loffredo, Sarka Pospisilova, Caterina Alfano, Marco Seri, Carlo L Balduini, Alessandro Pecci, Anna Savoia
ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to predispose to hematologic malignancies. To gain further information on this disorder, we searched for ETV6 mutations in the 130 families with inherited thrombocytopenia of unknown origin from our cohort of 274 consecutive pedigrees with familial thrombocytopenia. We identified 20 patients with ETV6-related thrombocytopenia from seven pedigrees. They have five different ETV6 variants, including three novel mutations affecting the highly conserved E26 transformation-specific domain...
November 2016: Haematologica
https://www.readbyqxmd.com/read/27276516/successful-use-of-eltrombopag-for-surgical-preparation-in-a-patient-with-ankrd26-related-thrombocytopenia
#19
LETTER
Mathieu Fiore, Noémie Saut, Marie-Christine Alessi, Jean-François Viallard
No abstract text is available yet for this article.
December 2016: Platelets
https://www.readbyqxmd.com/read/27248996/hereditary-predispositions-to-myelodysplastic-syndrome
#20
REVIEW
Sarah A Bannon, Courtney D DiNardo
Myelodysplastic syndromes (MDS) are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. Familial forms of MDS have traditionally been considered rare, especially in adults; however, the increasing availability of somatic and germline genetic analyses has identified multiple susceptibility loci. Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SBS), hallmarked by clinically-recognizable phenotypes (e...
May 30, 2016: International Journal of Molecular Sciences
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