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https://www.readbyqxmd.com/read/27777633/uncovering-obsessive-compulsive-disorder-risk-genes-in-a-pediatric-cohort-by-high-resolution-analysis-of-copy-number-variation
#1
Matthew J Gazzellone, Mehdi Zarrei, Christie L Burton, Susan Walker, Mohammed Uddin, S M Shaheen, Julie Coste, Rageen Rajendram, Reva J Schachter, Marlena Colasanto, Gregory L Hanna, David R Rosenberg, Noam Soreni, Kate D Fitzgerald, Christian R Marshall, Janet A Buchanan, Daniele Merico, Paul D Arnold, Stephen W Scherer
BACKGROUND: Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD. METHODS: We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27738328/genetic-variants-in-ptprd-and-risk-of-gestational-diabetes-mellitus
#2
Ting Chen, Juan Xu, Guangquan Liu, Heng Liu, Minjian Chen, Yufeng Qin, Wei Wu, Yankai Xia, Chenbo Ji, Xirong Guo, Juan Wen, Xinru Wang
Genome-wide association studies (GWASs) showed that two single nucleotide polymorphisms (SNPs) (rs17584499 and rs649891) in the protein tyrosine phosphatase receptor type D (PTPRD) were associated with type 2 diabetes (T2D). We sought to determine the influence of the PTPRD variants on the gestational diabetes mellitus (GDM) risk. In this research, two SNPs in PTPRD reported in T2D GWASs and six PTPRD expression-related SNPs were genotyped in 964 GDM cases and 1,021 controls using the Sequenom platform. Logistic regression analyses in additive models showed consistently significant associations of PTPRD rs10511544 A>C, rs10756026 T>A and rs10809070 C>G with a decreased risk of GDM [adjusted OR (95% CI) = 0...
October 12, 2016: Oncotarget
https://www.readbyqxmd.com/read/27539027/connectome-and-molecular-pharmacological-differences-in-the-dopaminergic-system-in-restless-legs-syndrome-rls-plastic-changes-and-neuroadaptations-that-may-contribute-to-augmentation
#3
Christopher J Earley, George R Uhl, Stefan Clemens, Sergi Ferré
Restless legs syndrome (RLS) is primarily treated with levodopa and dopaminergics that target the inhibitory dopamine receptor subtypes D3 and D2. The initial success of this therapy led to the idea of a hypodopaminergic state as the mechanism underlying RLS. However, multiple lines of evidence suggest that this simplified concept of a reduced dopamine function as the basis of RLS is incomplete. Moreover, long-term medication with the D2/D3 agonists leads to a reversal of the initial benefits of dopamine agonists and augmentation, which is a worsening of symptoms under therapy...
June 27, 2016: Sleep Medicine
https://www.readbyqxmd.com/read/27335277/the-genetics-of-nodal-marginal-zone-lymphoma
#4
Valeria Spina, Hossein Khiabanian, Monica Messina, Sara Monti, Luciano Cascione, Alessio Bruscaggin, Elisa Spaccarotella, Antony B Holmes, Luca Arcaini, Marco Lucioni, Fabrizio Tabbò, Sakellarios Zairis, Fary Diop, Michaela Cerri, Sabina Chiaretti, Roberto Marasca, Maurilio Ponzoni, Silvia Deaglio, Antonio Ramponi, Enrico Tiacci, Laura Pasqualucci, Marco Paulli, Brunangelo Falini, Giorgio Inghirami, Francesco Bertoni, Robin Foà, Raul Rabadan, Gianluca Gaidano, Davide Rossi
Nodal marginal zone lymphoma (NMZL) is a rare, indolent B-cell tumor that is distinguished from splenic marginal zone lymphoma (SMZL) by the different pattern of dissemination. NMZL still lacks distinct markers and remains orphan of specific cancer gene lesions. By combining whole-exome sequencing, targeted sequencing of tumor-related genes, whole-transcriptome sequencing, and high-resolution single nucleotide polymorphism array analysis, we aimed at disclosing the pathways that are molecularly deregulated in NMZL and we compare the molecular profile of NMZL with that of SMZL...
September 8, 2016: Blood
https://www.readbyqxmd.com/read/27087860/array-based-molecular-karyotyping-in-fetuses-with-isolated-brain-malformations-identifies-disease-causing-cnvs
#5
Madita Schumann, Andrea Hofmann, Sophia K Krutzke, Alina C Hilger, Florian Marsch, Dietlinde Stienen, Ulrich Gembruch, Michael Ludwig, Waltraut M Merz, Heiko Reutter
BACKGROUND: The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of this study was to detect causative copy number variations (CNVs) in fetuses of terminated pregnancies with prenatally detected isolated brain malformations. METHODS: Array-based molecular karyotyping was performed in a cohort of 35 terminated fetuses with isolated CNS malformations...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27067626/unbiased-identification-of-substrates-of-protein-tyrosine-phosphatase-ptp-3-in-c-elegans
#6
Christopher J Mitchell, Min-Sik Kim, Jun Zhong, Raja Sekhar Nirujogi, Anjun K Bose, Akhilesh Pandey
The leukocyte antigen related (LAR) family of receptor-like protein tyrosine phosphatases has three members in humans - PTPRF, PTPRD and PTPRS - that have been implicated in diverse processes including embryonic development, inhibition of cell growth and axonal guidance. Mutations in the LAR family are associated with developmental defects such as cleft palate as well as various cancers including breast, neck, lung, colon and brain. Although this family of tyrosine phosphatases is important for many developmental processes, little is known of their substrates...
June 2016: Molecular Oncology
https://www.readbyqxmd.com/read/26872011/frequent-hras-mutations-in-malignant-ectomesenchymoma-overlapping-genetic-abnormalities-with-embryonal-rhabdomyosarcoma
#7
Shih-Chiang Huang, Rita Alaggio, Yun-Shao Sung, Chun-Liang Chen, Lei Zhang, Yu-Chien Kao, Narasimhan P Agaram, Leonard H Wexler, Cristina R Antonescu
Malignant ectomesenchymoma (MEM) is an exceedingly rare pediatric sarcoma with a predilection for infants and young children and is composed of dual malignant mesenchymal and neuroectodermal components. Microscopically, MEM displays areas of rhabdomyosarcoma (RMS) with intermixed neuronal/neuroblastic foci. The molecular alterations associated with MEM and its relationship with embryonal RMS (ERMS) and malignant peripheral nerve sheath tumor (MPNST) have not yet been elucidated. In this study we used whole-transcriptome sequencing in 2 MEM index cases with available frozen tissue, followed by screening of the identified genetic abnormalities in 5 additional cases...
July 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/26847345/transgelin-increases-metastatic-potential-of-colorectal-cancer-cells-in-vivo-and-alters-expression-of-genes-involved-in-cell-motility
#8
Hui-Min Zhou, Yuan-Yuan Fang, Paul M Weinberger, Ling-Ling Ding, John K Cowell, Farlyn Z Hudson, Mingqiang Ren, Jeffrey R Lee, Qi-Kui Chen, Hong Su, William S Dynan, Ying Lin
BACKGROUND: Transgelin is an actin-binding protein that promotes motility in normal cells. Although the role of transgelin in cancer is controversial, a number of studies have shown that elevated levels correlate with aggressive tumor behavior, advanced stage, and poor prognosis. Here we sought to determine the role of transgelin more directly by determining whether experimental manipulation of transgelin levels in colorectal cancer (CRC) cells led to changes in metastatic potential in vivo...
2015: BMC Cancer
https://www.readbyqxmd.com/read/26656879/genome-wide-association-study-suggested-the-ptprd-polymorphisms-were-associated-with-weight-gain-effects-of-atypical-antipsychotic-medications
#9
Hao Yu, Lifang Wang, Luxian Lv, Cuicui Ma, Bo Du, Tianlan Lu, Chao Jin, Hao Yan, Yongfeng Yang, Wenqiang Li, Yanyan Ruan, Hongyan Zhang, Hongxing Zhang, Weifeng Mi, Bryan Mowry, Wenbin Ma, Keqing Li, Dai Zhang, Weihua Yue
BACKGROUND: Antipsychotic-induced weight gain (AIWG) is a serious concern in therapy with antipsychotic medications. To identify single nucleotide polymorphisms (SNPs) associated with AIWG, we conducted a genome-wide association study (GWAS) for antipsychotic treatment. METHODS: The discovery cohort consisted of 534 patients with schizophrenia, who underwent 8-week treatment with antipsychotics and were genotyped using the Illumina Human 610-Quad BeadChip. The independent replication cohort consisted of 547 patients with schizophrenia, treated with similar antipsychotics, and genotyped using the Sequenom MassARRAY platform...
May 2016: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/26643377/susceptible-genes-of-restless-legs-syndrome-in-migraine
#10
Jong-Ling Fuh, Ming-Yi Chung, Shu-Chih Yao, Ping-Kun Chen, Yi-Chu Liao, Chia-Lin Hsu, Po-Jen Wang, Yen-Feng Wang, Shih-Pin Chen, Cathy S-J Fann, Lung-Sen Kao, Shuu-Jiun Wang
OBJECTIVE: Several genetic variants have been found to increase the risk of restless legs syndrome (RLS). The aim of the present study was to determine if these genetic variants were also associated with the comorbidity of RLS and migraine in patients. METHODS: Thirteen single-nucleotide polymorphisms (SNPs) at six RLS risk loci (MEIS1, BTBD9, MAP2K5, PTPRD, TOX3, and an intergenic region on chromosome 2p14) were genotyped in 211 migraine patients with RLS and 781 migraine patients without RLS...
December 6, 2015: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/26629988/bioinformatics-analysis-of-the-effects-of-tobacco-smoke-on-gene-expression
#11
Chunhua Cao, Jianhua Chen, Chengqi Lyu, Jia Yu, Wei Zhao, Yi Wang, Derong Zou
This study was designed to explore the effects of tobacco smoke on gene expression through bioinformatics analyses. Gene expression profile GSE17913 was downloaded from the Gene Expression Omnibus database. The differentially expressed genes (DEGs) in buccal mucosa tissues between 39 active smokers and 40 never smokers were identified. Gene Ontology Specifically, the DEG distribution in the pathway of Metabolism of xenobiotics by cytochrome P450 was shown in Fig 2[corrected] were performed, followed by protein-protein interaction (PPI) network, transcriptional regulatory network as well as miRNA-target regulatory network construction...
2015: PloS One
https://www.readbyqxmd.com/read/26607758/protein-tyrosine-phosphatases-receptor-type-d-is-a-potential-tumour-suppressor-gene-inactivated-by-deoxyribonucleic-acid-methylation-in-paediatric-acute-myeloid-leukaemia
#12
Lei Song, Wen Jiang, Wei Liu, Ju-Hua Ji, Tai-Feng Shi, Jie Zhang, Chun-Qiu Xia
AIM: Protein tyrosine phosphatases receptor type D (PTPRD) is a tumour suppressor gene, and its epigenetic silencing is frequently found in glioblastoma. As aberrant deoxyribonucleic acid (DNA) methylation patterning has been shown to play a role in leukaemogenesis, we studied the promoter methylation, expression profiles and molecular functions of PTPRD in paediatric patients with acute myeloid leukaemia (AML). METHODS: Bone marrow specimens were obtained from 32 Chinese patients with a mean age of 7...
March 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/26510912/personalized-comprehensive-molecular-profiling-of-high-risk-osteosarcoma-implications-and-limitations-for-precision-medicine
#13
Vivek Subbiah, Michael J Wagner, Mary F McGuire, Nawid M Sarwari, Eswaran Devarajan, Valerae O Lewis, Shanon Westin, Shumei Kato, Robert E Brown, Pete Anderson
BACKGROUND: Despite advances in molecular medicine over recent decades, there has been little advancement in the treatment of osteosarcoma. We performed comprehensive molecular profiling in two cases of metastatic and chemotherapy-refractory osteosarcoma to guide molecularly targeted therapy. PATIENTS AND METHODS: Hybridization capture of >300 cancer-related genes plus introns from 28 genes often rearranged or altered in cancer was applied to >50 ng of DNA extracted from tumor samples from two patients with recurrent, metastatic osteosarcoma...
December 1, 2015: Oncotarget
https://www.readbyqxmd.com/read/26498245/association-of-low-ferritin-with-plm-in-the-wisconsin-sleep-cohort
#14
Jason Li, Hyatt Moore, Ling Lin, Terry Young, Laurel Finn, Paul E Peppard, Emmanuel Mignot
OBJECTIVE: The origins of periodic leg movements (PLMs), a strong correlate of restless legs syndrome (RLS), are uncertain. This study was performed to assess the relationship between PLMs and peripheral iron deficiency, as measured with ferritin levels corrected for inflammation. METHODS: We included a cross-sectional sample of a cohort study of 801 randomly selected people (n = 1008 assays, mean age 58.6 ± 0.3 years) from Wisconsin state employee agencies...
November 2015: Sleep Medicine
https://www.readbyqxmd.com/read/26474282/increased-metastasis-with-loss-of-e2f2-in-myc-driven-tumors
#15
Inez Yuwanita, Danielle Barnes, Michael D Monterey, Sandra O'Reilly, Eran R Andrechek
In human breast cancer, mortality is associated with metastasis to distant sites. Therefore, it is critical to elucidate the biological mechanisms that underlie tumor progression and metastasis. Using signaling pathway signatures we previously predicted a role for E2F transcription factors in Myc induced tumors. To test this role we interbred MMTV-Myc transgenic mice with E2F knockouts. Surprisingly, we observed that the loss of E2F2 sharply increased the percentage of lung metastasis in MMTV-Myc transgenic mice...
November 10, 2015: Oncotarget
https://www.readbyqxmd.com/read/26425837/ptprd-gene-associated-with-blood-pressure-response-to-atenolol-and-resistant-hypertension
#16
Yan Gong, Caitrin W McDonough, Amber L Beitelshees, Nihal El Rouby, Timo P Hiltunen, Jeffrey R O'Connell, Sandosh Padmanabhan, Taimour Y Langaee, Karen Hall, Siegfried O F Schmidt, Robert W Curry, John G Gums, Kati M Donner, Kimmo K Kontula, Kent R Bailey, Eric Boerwinkle, Atsushi Takahashi, Toshihiro Tanaka, Michiaki Kubo, Arlene B Chapman, Stephen T Turner, Carl J Pepine, Rhonda M Cooper-DeHoff, Julie A Johnson
OBJECTIVE: The aim of this study is to identify single-nucleotide polymorphisms (SNPs) influencing blood pressure (BP) response to the β-blocker atenolol. METHODS: Genome-wide association analysis of BP response to atenolol monotherapy was performed in 233 white participants with uncomplicated hypertension in the pharmacogenomic evaluation of antihypertensive responses study. Forty-two polymorphisms with P less than 10 for association with either diastolic or systolic response to atenolol monotherapy were validated in four independent groups of hypertensive individuals (total n = 2114)...
November 2015: Journal of Hypertension
https://www.readbyqxmd.com/read/26341907/developmental-expression-and-function-analysis-of-protein-tyrosine-phosphatase-receptor-type-d-in-oligodendrocyte-myelination
#17
Q Zhu, Z Tan, S Zhao, H Huang, X Zhao, X Hu, Y Zhang, C B Shields, N Uetani, M Qiu
Receptor protein tyrosine phosphatases (RPTPs) are extensively expressed in the central nervous system (CNS), and have distinct spatial and temporal patterns in different cell types during development. Previous studies have demonstrated possible roles for RPTPs in axon outgrowth, guidance, and synaptogenesis. In the present study, our results revealed that protein tyrosine phosphatase, receptor type D (PTPRD) was initially expressed in mature neurons in embryonic CNS, and later in oligodendroglial cells at postnatal stages when oligodendrocytes undergo active axonal myelination process...
November 12, 2015: Neuroscience
https://www.readbyqxmd.com/read/26314684/genome-wide-association-study-of-autism-spectrum-disorder-in-the-east-asian-populations
#18
Xiaoxi Liu, Takafumi Shimada, Takeshi Otowa, Yu-Yu Wu, Yoshiya Kawamura, Mamoru Tochigi, Yasuhide Iwata, Tadashi Umekage, Tomoko Toyota, Motoko Maekawa, Yoshimi Iwayama, Katsuaki Suzuki, Chihiro Kakiuchi, Hitoshi Kuwabara, Yukiko Kano, Hisami Nishida, Toshiro Sugiyama, Nobumasa Kato, Chia-Hsiang Chen, Norio Mori, Kazuo Yamada, Takeo Yoshikawa, Kiyoto Kasai, Katsushi Tokunaga, Tsukasa Sasaki, Susan Shur-Fen Gau
Autism spectrum disorder is a heterogeneous neurodevelopmental disorder with strong genetic basis. To identify common genetic variations conferring the risk of ASD, we performed a two-stage genome-wide association study using ASD family and healthy control samples obtained from East Asian populations. A total of 166 ASD families (n = 500) and 642 healthy controls from the Japanese population were used as the discovery cohort. Approximately 900,000 single nucleotide polymorphisms (SNPs) were genotyped using Affymetrix Genome-Wide Human SNP array 6...
March 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/26298793/analysis-of-functional-glo1-variants-in-the-btbd9-locus-and-restless-legs-syndrome
#19
Ziv Gan-Or, Sirui Zhou, Amirthagowri Ambalavanan, Claire S Leblond, Pingxing Xie, Amelie Johnson, Dan Spiegelman, Richard P Allen, Christopher J Earley, Alex Desautels, Jacques Y Montplaisir, Patrick A Dion, Lan Xiong, Guy A Rouleau
BACKGROUND: Restless legs syndrome (RLS) is a common disorder, with several known genetic risk factors, yet the actual genetic causes are unclear. METHODS: Whole-exome sequencing (WES) was performed in seven RLS families, focusing on six known genetic loci: MEIS1, BTBD9, PTPRD, MAP2K5/SKOR1, TOX3, and rs6747972. Genotyping using specific TaqMan assays was performed in two case-control cohorts (627 patients and 410 controls), and in a familial cohort (n = 718). RESULTS: WES identified two candidate GLO1 variants (within the BTBD9 locus), p...
September 2015: Sleep Medicine
https://www.readbyqxmd.com/read/26292654/cnv-analysis-associates-aknad1-with-type-2-diabetes-in-jordan-subpopulations
#20
Rana Dajani, Jin Li, Zhi Wei, Joseph T Glessner, Xiao Chang, Christopher J Cardinale, Renata Pellegrino, Tiancheng Wang, Nancy Hakooz, Yousef Khader, Amina Sheshani, Duaa Zandaki, Hakon Hakonarson
Previous studies have identified a number of single nucleotide polymorphisms (SNPs) associated with type-2 diabetes (T2D), but copy number variation (CNV) association has rarely been addressed, especially in populations from Jordan. To investigate CNV associations for T2D in populations in Jordan, we conducted a CNV analysis based on intensity data from genome-wide SNP array, including 34 T2D cases and 110 healthy controls of Chechen ethnicity, as well as 34 T2D cases and 106 healthy controls of Circassian ethnicity...
2015: Scientific Reports
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