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https://www.readbyqxmd.com/read/28357685/familial-acute-myeloid-leukemia-and-myelodysplasia-in-hungary
#1
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
#2
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.
February 16, 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
#3
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
#4
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
#5
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
#6
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...
December 29, 2016: Platelets
https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#7
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
#8
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
#9
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-pathogenetic-features-of-etv6-related-thrombocytopenia-with-predisposition-to-acute-lymphoblastic-leukemia
#10
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 (ETV6-RT) is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to predispose to hematological 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 ETV6-RT patients from 7 pedigrees. They have 5 different ETV6 variants, including three novel mutations affecting the highly conserved E26 transformation-specific domain...
June 30, 2016: Haematologica
https://www.readbyqxmd.com/read/27276516/successful-use-of-eltrombopag-for-surgical-preparation-in-a-patient-with-ankrd26-related-thrombocytopenia
#11
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
#12
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
https://www.readbyqxmd.com/read/27123948/clinical-and-laboratory-characteristics-in-congenital-ankrd26-mutation-associated-thrombocytopenia-a-detailed-phenotypic-study-of-a-family
#13
Juliana Perez Botero, Dong Chen, Rong He, David S Viswanatha, Julie A Majerus, Lea M Coon, Phuong L Nguyen, Karen K Reichard, Jennifer L Oliveira, Ayalew Tefferi, Naseema Gangat, Rajiv K Pruthi, Mrinal M Patnaik
The clinical and laboratory characteristics of patients with non-syndromic, autosomal dominant thrombocytopenia secondary to germ line ANKRD26 mutations appear to be heterogeneous. Except for a targeted molecular genotyping approach, there is no distinct clinical or laboratory phenotype that has been specifically associated with this particular gene mutation. Such heterogeneity could be due to variations in mutation and genetic background in different families. To understand the phenotypic heterogeneity, we thoroughly studied one affected family using the International Society for Thrombosis and Haemostasis bleeding assessment tool and both clinically validated standard and esoteric platelet testing (electron microscopy (EM) and flow cytometry)...
November 2016: Platelets
https://www.readbyqxmd.com/read/27108925/ankrd26-normocytic-thrombocytopenia-a-family-report
#14
Anne Vincenot, Marie-Françoise Hurtaud-Roux, Olivier René, Sylvie Binard, Odile Fenneteau, Nicole Schlegel
We report the identification of a new case of familial non syndromic severe thrombocytopenia. Bleeding was mild and no extra-haematological symptoms were found. Platelet morphology was normal as well as the quantitative expression of platelet membrane glycoproteins. Platelet functions could not be studied due to the intensity of the thrombocytopenia. Molecular analysis identified a mutation located in the promoter of the ankyrin repeat domain 26 (ANKRD26) gene, c.-127A>T, recently reported to be responsible of normocytic thrombocytopenia, but also of a possible increased risk of leukemia/myelodysplasia...
June 1, 2016: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/26884589/spectrum-of-clinical-and-genetic-features-of-patients-with-inherited-platelet-disorder-with-suspected-predisposition-to-hematological-malignancies-a-nationwide-survey-in-japan
#15
A Yoshimi, T Toya, Y Nannya, K Takaoka, K Kirito, E Ito, H Nakajima, Y Hayashi, T Takahashi, A Moriya-Saito, K Suzuki, H Harada, N Komatsu, K Usuki, M Ichikawa, M Kurokawa
BACKGROUND: Inherited thrombocytopenia (IT) contains several forms of familial thrombocytopenia and some of them have propensity to hematological malignancies. The etiological and genetic features of this heterogeneous syndrome have not yet been elucidated. PATIENTS AND METHODS: We conducted a nationwide survey to collect clinical information and samples from patients with familial thrombocytopenia and/or hematological malignancies in order to obtain a comprehensive understanding of IT...
May 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/26876264/-clinical-and-genetic-background-of-familial-myelodysplasia-and-acute-myeloid-leukemia
#16
REVIEW
Péter Attila Király, Krisztián Kállay, Dóra Marosvári, Gábor Benyó, Anita Szőke, Judit Csomor, Csaba Bödör
Myelodysplastic syndrome and acute myeloid leukaemia are mainly sporadic diseases, however, rare familial cases exist. These disorders are considered rare, but are likely to be more common than currently appreciated, and are characterized by the autosomal dominant mutations of hematopoietic transcription factors. These syndromes have typical phenotypic features and are associated with an increased risk for developing overt malignancy. Currently, four recognized syndromes could be separated: familial acute myeloid leukemia with mutated CEBPA, familial myelodysplastic syndrome/acute myeloid leukemia with mutated GATA2, familial platelet disorder with propensity to myeloid malignancy with RUNX1 mutations, and telomere biology disorders due to mutations of TERC or TERT...
February 21, 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/26418419/comprehensive-identification-of-sexual-dimorphism-associated-differentially-expressed-genes-in-two-way-factorial-designed-rna-seq-data-on-japanese-quail-coturnix-coturnix-japonica
#17
Kelsey Caetano-Anolles, Minseok Seo, Sandra Rodriguez-Zas, Jae-Don Oh, Jae Yong Han, Kichoon Lee, Tae Sub Park, Sangsu Shin, Zhang Jiao Jiao, Mrinmoy Ghosh, Dong Kee Jeong, Seoae Cho, Heebal Kim, Ki-Duk Song, Hak-Kyo Lee
Japanese quail (Coturnix coturnix japonica) reach sexual maturity earlier, breed rapidly and successfully, and cost less and require less space than other birds raised commercially. Given the value of this species for food production and experimental use, more studies are necessary to determine chromosomal regions and genes associated with gender and breed-differentiation. This study employed Trinity and edgeR for transcriptome analysis of next-generation RNA-seq data, which included 4 tissues obtained from 3 different breeding lines of Japanese quail (random bred control, heavy weight, low weight)...
2015: PloS One
https://www.readbyqxmd.com/read/26175287/analyses-of-genetic-and-clinical-parameters-for-screening-patients-with-inherited-thrombocytopenia-with-small-or-normal-sized-platelets
#18
Meri Ouchi-Uchiyama, Yoji Sasahara, Atsuo Kikuchi, Kumiko Goi, Takaya Nakane, Mitsuru Ikeno, Yasushi Noguchi, Naokuni Uike, Yuji Miyajima, Kousaku Matsubara, Katsuyoshi Koh, Kanji Sugita, Masue Imaizumi, Shigeo Kure
BACKGROUND: Childhood thrombocytopenias include immune thrombocytopenic purpura (ITP) and inherited thrombocytopenia; the former is caused by autoantibodies to platelets, whereas the latter can be distinguished by platelet size and underlying genetic mutations. Due to limited methods for the definite diagnosis of ITP, genetic and clinical parameters are required for diagnosing inherited thrombocytopenias with small or normal-sized platelets. PROCEDURE: In total, 32 Japanese patients with thrombocytopenia with small or normal-sized platelets from 29 families were enrolled...
December 2015: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/26042666/putative-regulatory-factors-associated-with-intramuscular-fat-content
#19
Aline S M Cesar, Luciana C A Regitano, James E Koltes, Eric R Fritz-Waters, Dante P D Lanna, Gustavo Gasparin, Gerson B Mourão, Priscila S N Oliveira, James M Reecy, Luiz L Coutinho
Intramuscular fat (IMF) content is related to insulin resistance, which is an important prediction factor for disorders, such as cardiovascular disease, obesity and type 2 diabetes in human. At the same time, it is an economically important trait, which influences the sensorial and nutritional value of meat. The deposition of IMF is influenced by many factors such as sex, age, nutrition, and genetics. In this study Nellore steers (Bos taurus indicus subspecies) were used to better understand the molecular mechanisms involved in IMF content...
2015: PloS One
https://www.readbyqxmd.com/read/26001113/asxl1-mutated-chronic-myelomonocytic-leukemia-in-a-patient-with-familial-thrombocytopenia-secondary-to-germline-mutation-in-ankrd26
#20
LETTER
J Perez Botero, J L Oliveira, D Chen, K K Reichard, D S Viswanatha, P L Nguyen, R K Pruthi, J Majerus, P Gada, N Gangat, A Tefferi, M M Patnaik
No abstract text is available yet for this article.
2015: Blood Cancer Journal
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