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https://www.readbyqxmd.com/read/28087634/genome-wide-identification-of-regulatory-elements-in-sertoli-cells
#1
Danielle M Maatouk, Anirudh Natarajan, Yoichiro Shibata, Lingyun Song, Gregory E Crawford, Uwe Ohler, Blanche Capel
A current goal of molecular biology is to identify transcriptional networks regulating cell differentiation. However, identifying functional gene regulatory elements has been challenging in the context of developing tissues where material is limited and cell types are mixed. To identify regulatory sites during sex determination, we subjected Sertoli cells from mouse fetal testes to DNaseI-seq and ChIP-seq for H3K27ac. DNaseI-seq identified putative regulatory sites around Sertoli- and pregranulosa-enriched genes; however, active enhancers marked by H3K27ac were enriched proximal only to Sertoli-enriched genes...
January 13, 2017: Development
https://www.readbyqxmd.com/read/28081536/wt1-haploinsufficiency-supports-milder-renal-manifestation-in-two-patients-with-denys-drash-syndrome
#2
Mara S Guaragna, Juliana G Ribeiro de Andrade, Bárbara de Freitas Carli, Vera M S Belangero, Andréa T Maciel-Guerra, Gil Guerra-Júnior, Maricilda P de Mello
Denys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms' tumor. DDS patients usually present heterozygous de novo germline WT1 mutations. The WT1 gene comprises 10 exons encoding the N-terminal transactivation and the C-terminal DNA-binding regions. Two unrelated patients with genital ambiguity and Wilms' tumor were analyzed by sequencing of the WT1 gene, and 3 mutations in exon 1 were identified of which 2 are novel. Patient 1 carried a c.555delC mutation that causes a frameshift and a premature stop codon...
January 13, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28074068/a-cpg-island-methylator-phenotype-in-acute-myeloid-leukemia-independent-of-idh-mutations-and-associated-with-a-favorable-outcome
#3
A D Kelly, H Kroeger, J Yamazaki, R Taby, F Neumann, S Yu, J T Lee, B Patel, Y Li, R He, S Liang, Y Lu, M Cesaroni, S A Pierce, S M Kornblau, C E Bueso-Ramos, F Ravandi, H M Kantarjian, J Jelinek, J-Pj Issa
Genetic changes are infrequent in acute myeloid leukemia (AML) compared to other malignancies and often involve epigenetic regulators, suggesting that an altered epigenome may underlie AML biology and outcomes. In 96 AML cases including 65 pilot samples selected for cured/not-cured, we found higher CpG island (CGI) promoter methylation in cured patients. Expanded genome-wide digital restriction enzyme analysis of methylation (DREAM) data revealed a CGI methylator phenotype independent of IDH1/2 mutations we term AML-CIMP (A-CIMP(+))...
January 11, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28070205/plasticity-of-adipose-tissue-in-response-to-fasting-and-refeeding-in-male-mice
#4
Hao-Neng Tang, Chen-Yi Tang, Xiao-Fei Man, Shu-Wen Tan, Yue Guo, Jun Tang, Ci-La Zhou, Hou-De Zhou
BACKGROUND: Fasting is the most widely prescribed and self-imposed strategy for treating excessive weight gain and obesity, and has been shown to exert a number of beneficial effects. The aim of the present study was to determine the exact role of fasting and subsequent refeeding on fat distribution in mice. METHODS: C57/BL6 mice fasted for 24 to 72 h and were then subjected to refeeding for 72 h. At 24, 48 and 72 h of fasting, and 12, 24, 48 and 72 h of refeeding, the mice were sacrificed, and serum and various adipose tissues were collected...
2017: Nutrition & Metabolism
https://www.readbyqxmd.com/read/28068926/screening-of-wt1-mutations-in-exon-8-and-9-in-children-with-steroid-resistant-nephrotic-syndrome-from-a-single-centre-and-establishment-of-a-rapid-screening-assay-using-high-resolution-melting-analysis-in-a-clinical-setting
#5
Annes Siji, Varsha Chhotusing Pardeshi, Shilpa Ravindran, Ambily Vasudevan, Anil Vasudevan
BACKGROUND: Mutations in Wilm's tumor 1 (WT1) gene is one of the commonly reported genetic mutations in children with steroid resistant nephrotic syndrome (SRNS). We report the results of direct sequencing of exons 8 and 9 of WT1 gene in 100 children with SRNS from a single centre. We standardized and validated High Resolution Melt (HRM) as a rapid and cost effective screening step to identify individuals with normal sequence and distinguish it from those with a potential mutation. Since only mutation positive samples identified by HRM will be further processed for sequencing it will help in reducing the sequencing burden and speed up the screening process...
January 10, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28067876/impact-of-wilms-tumor-1-expression-on-outcome-of-patients-undergoing-allogeneic-stem-cell-transplantation-for-aml
#6
R Duléry, O Nibourel, J Gauthier, V Elsermans, H Behal, V Coiteux, L Magro, A Renneville, A Marceau, T Boyer, B Quesnel, C Preudhomme, A Duhamel, I Yakoub-Agha
The monitoring of the minimal residual disease by Wilms' tumor 1 expression (MRD(WT1)) is a standardized test, which can be used in over 80% of patients with AML. To investigate the prognostic value of MRD(WT1) in patients undergoing allogeneic stem cell transplantation (allo-SCT) for AML, MRD(WT1) was monitored 3 months after transplantation in 139 patients. MRD(WT1) positivity did not lead to any therapeutic intervention. Median follow-up was 39.3 (6.4-99.8) months. Patients with positive MRD(WT1) at 3 months experienced more often post-transplant relapse (27/30, 90%) than those with negative MRD(WT1) (16/109, 14...
January 9, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28059119/dysregulation-of-wti-kts-is-associated-with-the-kidney-specific-effects-of-the-lmx1b-r246q-mutation
#7
Gentzon Hall, Brandon Lane, Megan Chryst-Ladd, Guanghong Wu, Jen-Jar Lin, XueJun Qin, Elizabeth R Hauser, Rasheed Gbadegesin
Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition characterized by skeletal changes, glaucoma and focal segmental glomerulosclerosis. Recently, a missense mutation (R246Q) in LMX1B was reported as a cause of glomerular pathologies without extra-renal manifestations, otherwise known as nail patella-like renal disease (NPLRD). We have identified two additional NPLRD families with the R246Q mutation, though the mechanisms by which LMX1BR246Q causes a renal-specific phenotype is unknown...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28054314/turning-back-the-wheel-inducing-mesenchymal-to-epithelial-transition-via-wilms-tumor-1-knockdown-in-human-mesothelioma-cell-lines-to-influence-proliferation-invasiveness-and-chemotaxis
#8
Till Plönes, Mitja Fischer, Kerstin Höhne, Hiromi Sato, Joachim Müller-Quernheim, Gernot Zissel
Malignant pleural mesothelioma (MPM) is a highly aggressive tumor that arises from the surface of the pleura and is associated with a history of asbestos exposure. The tumor is characterized by a strong local invasiveness and a poor response to any single modality therapy. Therefore clinical outcome of patients with MPM is poor and median survival time of untreated patients with MPM is 7 months from initial diagnosis. The Wilms Tumor Protein 1 (WT1) is a transcription factor which is highly expressed by MPM and is involved in cellular development and survival...
January 4, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28049694/a-supporting-cell-role-for-wt1-in-gonad-development
#9
(no author information available yet)
No abstract text is available yet for this article.
January 1, 2017: Development
https://www.readbyqxmd.com/read/28049640/cml-patients-with-deep-molecular-responses-to-tki-have-restored-immune-effectors-decreased-pd-1-and-immune-suppressors
#10
Amy Hughes, Jade Clarson, Carine Tang, Ljiljana Vidovic, Deborah L White, Timothy P Hughes, Agnes S M Yong
Immunological control may contribute to achievement of deep molecular response in chronic myeloid leukemia (CML) patients on tyrosine kinase inhibitor (TKI) therapy and may promote treatment free remission (TFR). We investigated effector and suppressor immune responses in CML patients at diagnosis (n=21), on TKI (imatinib, nilotinib, dasatinib) prior to achieving major molecular response (pre-MMR, BCR-ABL1 >0.1%, n=8), MMR (BCR-ABL1 ≤0.1%, n=20), molecular response(4.5) (MR(4.5), BCR-ABL1 ≤0.0032%, n=16) and sustained TFR (BCR-ABL1 undetectable following cessation of TKI therapy, n=13)...
January 3, 2017: Blood
https://www.readbyqxmd.com/read/28043525/molecular-genetics-of-mycobacterium-tuberculosis-resistant-to-aminoglycosides-and-cyclic-peptide-testing-by-mtbdrsl-in-armenia
#11
Hasmik Margaryan, Parissa Farnia, Armen Hayrapetyan, Alvard Mirzoyan
OBJECTIVE/BACKGROUND: The GenoType MTBDRsl test rapidly detects resistance to ethambutol, fluoroquinolones, second-line aminoglycosides (amikacin [AMK] and kanamycin [KAN]), and cyclic peptides (capreomycin [CAP]) in Mycobacterium tuberculosis. According to data from Global Drug Resistance Surveillance Report (2007), Armenia is counted as a high-burden country for multidrug-resistant tuberculosis (MDR-TB). The estimated burden of MDR-TB in 2012 was 9.4 (7-12) and 43 (38-49) among retreatment TB cases...
December 2016: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28024475/-effect-of-wt1-gene-high-expression-and-cd34-and-auer-on-prognosis-of-acute-myeloid-leukemia
#12
Zhong-Li Hu, Bao-Jun Huang, Shao-Jun Pan
OBJECTIVE: To explore the clinical significance of WT1 expression level in patient with AML non-M3,understand the biological characteristics of Auer(+) and CD34(+) AML and its effects on first induced remission rate and prognosis. METHODS: The RQ-PCR was used to detect the WT1 expression levels in 92 patients suffering AML non-M3; the relationship between the CR1 and OS was analysed and the differences of CR1 and OS in AML with Auer(+) and Auer(-),CD34(+) and CD34(-) were compared...
December 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28024467/-features-of-immunophenotypes-and-characteristics-of-molecular-biology-and-cellular-genetics-of-aml-patients-with-cd4-and-cd7-expression
#13
Tie-Qiang Liu, Shan Huang, Bo Yao, Zhi-Qing Liu, Chang-Lin Yu, Jian-Hui Qiao, Qi-Yun Sun, Kai-Xun Hu, Ya-Jing Huang, Rui Zhang, Yu-Fang Li, Juan Bai, Yu-Jing Sun, Bing-Xia Li, Dong-Mei Wang, Yi Wang, Mei Guo
OBJECTIVE: To explore the features of immunophenotypes and the characteristics of molecular biology and cellular genetics of AML patients with CD7 and CD4 expression. METHODS: The immunophenotypical markers of AML cells were detected by multiple parameter flow cytometry; the expression of WT1, MDK, ETO, PML-RaRa and BCR-ABL were detected by RT-PCR; and cellular features were analyzed by R-band in 304 patients. The patients were divided into three groups according to their immunophenotypes: AML with CD7 expression (CD7 group), AML with CD4 expression(CD4 group) and AML without CD7 and CD4 expression (common AML group)...
December 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28011530/the-wilms-tumor-wt1-gene-methods-and-protocols
#14
(no author information available yet)
No abstract text is available yet for this article.
January 2017: Anticancer Research
https://www.readbyqxmd.com/read/28008375/knockdown-of-ewsr1-fli1-expression-alters-the-transcriptome-of-ewing-sarcoma-cells-in-vitro
#15
Jihan Wang, Wenyan Jiang, Yuzhu Yan, Chu Chen, Yan Yu, Biao Wang, Heping Zhao
Ewing sarcoma breakpoint region 1 (EWSR1) fusion with Friend leukemia integration 1 transcription factor (FLI1) induced by a translocation of chromosome 11 with 22 contributes to Ewing sarcoma development. To date, the precise molecular mechanisms about EWSR1/FLI1 involving in Ewing sarcoma development remains to be defined. This study explored the potential critical gene targets of EWSR1/FLI1 knockdown in Ewing sarcoma cells on the gene expression profile based on online dataset, performed Limma algorithm for differentially expressed genes identification, constructed the transcriptional factor (TF)-gene regulatory network based on integrate transcriptional regulatory element database (TRED)...
November 2016: Journal of Bone Oncology
https://www.readbyqxmd.com/read/28007630/improving-the-accuracy-of-mesothelioma-diagnosis-in-china
#16
Zhenying Guo, Michele Carbone, Xing Zhang, Dan Su, Wenyong Sun, Jianlin Lou, Zhibin Gao, Dichu Shao, Junqiang Chen, Gu Zhang, Jinlin Hu, Kaiyan Chen, Fang Wang, Harvey I Pass, Herbert Yu, Andrea Napolitano, Haining Yang, Weiming Mao
BACKGROUND: In the Western World malignant mesothelioma (MM) is most prevalent in the pleura of older males professionally exposed to asbestos. Information about MM from rapidly industrializing countries, such as China, is minimal. There is concern that a proportion of MM diagnoses in China may be incorrect because most Chinese physicians do not have experience diagnosing this rare cancer. We recently reported an unusual high incidence of peritoneal MM among Eastern Chinese female patients...
December 19, 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/27997722/pitavastatin-suppresses-hyperglycemia-induced-podocyte-injury-via-bone-morphogenetic-protein-7-preservation
#17
Makoto Ohigashi, Miyuki Kobara, Tamotsu Takahashi, Hiroe Toba, Takehiko Wada, Tetsuo Nakata
BACKGROUND: Podocytes form the essential components of the glomerular filtration barrier and play a critical role in diabetic nephropathy. Recent evidence suggests that HMG-CoA reductase inhibitors (statins) exert renoprotective effects. We investigated whether pitavastatin directly suppresses hyperglycemia-induced podocyte injury using cultured podocytes and, if so, the mechanism of the beneficial effects. METHODS AND RESULTS: Cultured podocytes were exposed to media containing normal (NG; 5 mmol/L) or high (HG; 25 mmol/L) glucose for one week...
December 20, 2016: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/27993090/wilms-tumor-1-wt1-targeted-cancer-vaccines-to-extend-survival-for-patients-with-pancreatic-cancer
#18
Shigeo Koido, Masato Okamoto, Shigetaka Shimodaira, Haruo Sugiyama
Despite novel chemotherapy treatments, pancreatic ductal adenocarcinoma (PDA) remains a lethal disease. New targeted cancer vaccines may represent a viable option for patients with PDA. The Wilms' tumor 1 (WT1) antigen is one of the most widely expressed tumor-associated antigens in various types of tumors, including PDA. Recent reports have indicated that WT1-targeted cancer vaccines for patients with PDA mediated a potent antitumor effect when combined with chemotherapy in preclinical and clinical studies...
November 2016: Immunotherapy
https://www.readbyqxmd.com/read/27992414/dynamics-of-clonal-evolution-in-myelodysplastic-syndromes
#19
Hideki Makishima, Tetsuichi Yoshizato, Kenichi Yoshida, Mikkael A Sekeres, Tomas Radivoyevitch, Hiromichi Suzuki, Bartlomiej Przychodzen, Yasunobu Nagata, Manja Meggendorfer, Masashi Sanada, Yusuke Okuno, Cassandra Hirsch, Teodora Kuzmanovic, Yusuke Sato, Aiko Sato-Otsubo, Thomas LaFramboise, Naoko Hosono, Yuichi Shiraishi, Kenichi Chiba, Claudia Haferlach, Wolfgang Kern, Hiroko Tanaka, Yusuke Shiozawa, Inés Gómez-Seguí, Holleh D Husseinzadeh, Swapna Thota, Kathryn M Guinta, Brittney Dienes, Tsuyoshi Nakamaki, Shuichi Miyawaki, Yogen Saunthararajah, Shigeru Chiba, Satoru Miyano, Lee-Yung Shih, Torsten Haferlach, Seishi Ogawa, Jaroslaw P Maciejewski
To elucidate differential roles of mutations in myelodysplastic syndromes (MDS), we investigated clonal dynamics using whole-exome and/or targeted sequencing of 699 patients, of whom 122 were analyzed longitudinally. Including the results from previous reports, we assessed a total of 2,250 patients for mutational enrichment patterns. During progression, the number of mutations, their diversity and clone sizes increased, with alterations frequently present in dominant clones with or without their sweeping previous clones...
December 19, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27990711/a-novel-functional-variant-in-wilms-tumor-1-wt1-is-associated-with-idiopathic-non-obstructive-azoospermia
#20
Jin Xu, Lile Jiang, Wenzhu Yu, Haibin Guo, Helong Zhang, Duo Wei, Lingling Liang, Ke Feng, Xiaobing Song, Qi Liu, Bingbing Song, Haoying Hao, Ying Zhang, Cuilian Zhang
Idiopathic non-obstructive azoospermia (INOA) is one of the most severe forms of male infertility, yet its pathophysiology remains unclear. WT1 (Wilm's tumor 1) regulates the polarity of Sertoli cells, thereby playing a critical, indirect role in spermatogenesis. Here, we evaluated WT1 gene variation associates with INOA by assessing its promoter and coding regions in 200 patients diagnosed with INOA and 200 proven fertile men. Three novel variants in the WT1 coding region were detected only in INOA patients, including two synonymous variants and one missense variant, p...
December 19, 2016: Molecular Reproduction and Development
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