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https://www.readbyqxmd.com/read/29784668/centrosome-linker-induced-tetraploid-segregation-errors-link-rhabdoid-phenotypes-and-lethal-colorectal-cancers
#1
Andrea Remo, Erminia Manfrin, Pietro Parcesepe, Alberto Ferrarini, Hye Seung Han, Mickys Ugnius, Carmelo Laudanna, Michele Simbolo, Donatella Malanga, Duarte Mendes Oliveira, Elisabetta Baritono, Tommaso Colangelo, Lina Sabatino, Jacopo Giuliani, Enrico Molinari, Marianna Garonzi, Luciano Xumerle, Massimo Delledonne, Guido Giordano, Claudio Ghimenton, Fortunato Lonardo, Fulvio D'angelo, Federica Grillo, Luca Mastracci, Giuseppe Viglietto, Michele Ceccarelli, Vittorio Colantuoni, Aldo Scarpa, Massimo Pancione
Centrosome anomalies contribute to tumorigenesis but it remains unclear how they are generated in lethal cancer phenotypes. Here, it is demonstrated that human microsatellite instable (MSI) and BRAF(V600E) mutant colorectal cancers with a lethal rhabdoid phenotype are characterized by inactivation of centrosomal functions. A splice site mutation that causes an unbalanced dosage of rootletin (CROCC), a centrosomal-linker component required for centrosome cohesion and separation at the chromosome 1p36.13 locus, resulted in abnormally shaped centrosomes in rhabdoid cells from human colon tissues...
May 21, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29752677/insight-into-the-mechanisms-and-consequences-of-recurrent-telomere-capture-associated-with-a-sub-telomeric-deletion
#2
Alexsandro Dos Santos, Francine Campagnari, Ana Cristina Victorino Krepischi, Maria de Lourdes Ribeiro Câmara, Rita de Cássia E de Arruda Brasil, Ligia Vieira, Angela M Vianna-Morgante, Paulo A Otto, Peter L Pearson, Carla Rosenberg
A complex mosaicism of the short arm of chromosome 1 detected by SNP microarray analysis is described in a patient presenting a 4-Mb 1p36 terminal deletion and associated phenotypic features. The array pattern of chromosome 1p displayed an intriguing increase in divergence of the SNP heterozygote frequency from the expected 50% from the centromere towards the 1p36 breakpoint. This suggests that various overlapping segments of UPD were derived by somatic recombination between the 1p homologues. The most likely explanation was the occurrence of a series of events initiated in either a gamete or an early embryonic cell division involving a 1pter deletion rapidly followed by multiple telomere captures, resulting in additive, stepped increases in frequency of homozygosity towards the telomere...
May 12, 2018: Chromosome Research
https://www.readbyqxmd.com/read/29738359/genomic-profile-and-pathologic-features-of-diffuse-large-b-cell-lymphoma-subtype-of-methotrexate-associated-lymphoproliferative-disorder-in-rheumatoid-arthritis-patients
#3
Joaquim Carreras, Yara Yukie Kikuti, Masashi Miyaoka, Shinichiro Hiraiwa, Sakura Tomita, Haruka Ikoma, Yusuke Kondo, Sawako Shiraiwa, Kiyoshi Ando, Shinji Sato, Yasuo Suzuki, Ikuo Miura, Giovanna Roncador, Naoya Nakamura
Rheumatoid arthritis patients often develop the diffuse large B-cell lymphoma subtype of methotrexate-associated lymphoproliferative disorder (DLBCLMTX-LPD ). We characterized the genomic profile and pathologic characteristics of 20 biopsies using an integrative approach. DLBCLMTX-LPD was associated with extranodal involvement, a high/high-intermediate international prognostic index in 53% of cases, and responded to MTX withdrawal. The phenotype was nongerminal center B-cell in 85% of samples and Epstein-Barr encoding region positive (EBER+ ) in 65%, with a high proliferation index and intermediate MYC expression levels...
May 5, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29706346/an-osteoporosis-risk-snp-at-1p36-12-acts-as-an-allele-specific-enhancer-to-modulate-linc00339-expression-via-long-range-loop-formation
#4
Xiao-Feng Chen, Dong-Li Zhu, Man Yang, Wei-Xin Hu, Yuan-Yuan Duan, Bing-Jie Lu, Yu Rong, Shan-Shan Dong, Ruo-Han Hao, Jia-Bin Chen, Yi-Xiao Chen, Shi Yao, Hlaing Nwe Thynn, Yan Guo, Tie-Lin Yang
Genome-wide association studies (GWASs) have reproducibly associated variants within intergenic regions of 1p36.12 locus with osteoporosis, but the functional roles underlying these noncoding variants are unknown. Through an integrative functional genomic and epigenomic analyses, we prioritized rs6426749 as a potential causal SNP for osteoporosis at 1p36.12. Dual-luciferase assay and CRISPR/Cas9 experiments demonstrate that rs6426749 acts as a distal allele-specific enhancer regulating expression of a lncRNA (LINC00339) (∼360 kb) via long-range chromatin loop formation and that this loop is mediated by CTCF occupied near rs6426749 and LINC00339 promoter region...
April 14, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29656754/malignant-cells-from-pleural-fluids-in-malignant-mesothelioma-patients-reveal-novel-mutations
#5
Sophie Sneddon, Ian Dick, Y C Gary Lee, A W Bill Musk, Ann-Marie Patch, John V Pearson, Nicola Waddell, Richard J N Allcock, Robert A Holt, Bruce W S Robinson, Jenette Creaney
OBJECTIVES: Malignant mesothelioma (MM) is an asbestos related tumour affecting cells of serosal cavities. More than 70% of MM patients develop pleural effusions which contain tumour cells, representing a readily accessible source of malignant cells for genetic analysis. Although common somatic mutations and losses have been identified in solid MM tumours, the characterization of tumour cells within pleural effusions could provide novel insights but is little studied. MATERIALS AND METHODS: DNA and RNA were extracted from cells from short term cultures of 27 human MM pleural effusion samples...
May 2018: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29619555/prognostic-significance-of-1p36-locus-deletion-in-adenoid-cystic-carcinoma-of-the-salivary-glands
#6
Petr Šteiner, Simon Andreasen, Petr Grossmann, Lukáš Hauer, Tomáš Vaněček, Markéta Miesbauerová, Thalita Santana, Katalin Kiss, David Slouka, Alena Skálová
Adenoid cystic carcinoma (AdCC) of the salivary glands is characterized by MYB-NFIB or MYBL1-NFIB fusion, prolonged but relentlessly progressive clinical course with frequent recurrences, and development of distant metastasis resulting in high long-term mortality. Currently, no effective therapy is available for patients with advanced non-resectable and/or metastatic disease. Complicating the clinical management of this patient group is the lack of prognostic markers. The purpose of this study is to investigate the prognostic value of 1p36 loss in patients with AdCC...
April 4, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29611295/cutis-laxa-in-a-patient-with-1p36-deletion-syndrome
#7
Zhen Zhang, Jian Wang, Niu Li, Ruen Yao, Ji Chen
Chromosome 1p36 deletion is the most common subtelomeric deletion syndrome characterized by variable features including unique facial appearance, intellectual disability, developmental delay, cardiac defects, seizures and hypotonia. Here, we report a patient with developmental delay, dilated cardiomyopathy, seizures, hirsutism and cutis laxa who was diagnosed with 1p36 deletion syndrome by chromosome microarray analysis. This patient is the first reported case of 1p36 deletion syndrome associated with cutis laxa and our results suggest that the 1p36 region contains one or more genes relevant to cutis laxa...
April 3, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29604224/mutations-in-vps13d-lead-to-a-new-recessive-ataxia-with-spasticity-and-mitochondrial-defects
#8
Eunju Seong, Ryan Insolera, Marija Dulovic, Erik-Jan Kamsteeg, Joanne Trinh, Norbert Brüggemann, Erin Sandford, Sheng Li, Ayse Bilge Ozel, Jun Z Li, Tamison Jewett, Anneke J A Kievit, Alexander Münchau, Vikram Shakkottai, Christine Klein, Catherine Collins, Katja Lohmann, Bart P van de Warrenburg, Margit Burmeister
OBJECTIVE: To identify novel causes of recessive ataxias, including spinocerebellar ataxia with saccadic intrusions, spastic ataxias and spastic paraplegia. METHODS: In an international collaboration, we independently performed exome sequencing in seven families with recessive ataxia and/or spastic paraplegia. To evaluate the role of VPS13D mutations, we evaluated a Drosophila knock-out model and investigated mitochondrial function in patient-derived fibroblast cultures...
March 31, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29600313/comparison-of-1p-and-19q-status-of-glioblastoma-by-whole-exome-sequencing-array-comparative-genomic-hybridization-and-fluorescence-in-situ-hybridization
#9
Jongmin Sim, Do-Hyun Nam, Yuil Kim, In-Hee Lee, Jung Won Choi, Jason K Sa, Yeon-Lim Suh
According to the 2016 World Health Organization classification of tumors of the central nervous system, detecting 1p/19q co-deletion became essential in clinical neuropathology for gliomas with oligodendroglioma-like morphology. Here, we assessed genomic profiles of glioblastoma in 80 cases including 1p/19q status using fluorescent in situ hybridization (FISH), array-comparative genomic hybridization (aCGH), and/or whole exome sequencing (WES). Paraffin-embedded tumor tissues were subjected to FISH analysis, and the corresponding frozen tissues from the same tumors were evaluated for aCGH and/or WES for 1p/19q co-deletion and other genetic parameters, which included IDH1-R132H, ATRX, TP53, CIC, and NOTCH1 mutations and MGMT methylation status...
March 29, 2018: Medical Oncology
https://www.readbyqxmd.com/read/29577611/srarp-and-hspb7-are-epigenetically-regulated-gene-pairs-that-function-as-tumor-suppressors-and-predict-clinical-outcome-in-malignancies
#10
Ali Naderi
Deletions of chromosome 1p36 are common in cancers; however, despite extensive studies, there has been limited success for discovering candidate tumor suppressors in this region. SRARP has recently been identified as a novel corepressor of the androgen receptor (AR) and is located on chromosome 1p36. Here, bioinformatics analysis of large tumor datasets were performed to study SRARP and its gene pair, HSPB7. In addition, using cancer cell lines, mechanisms of SRARP and HSPB7 regulation and their molecular functions were investigated...
March 26, 2018: Molecular Oncology
https://www.readbyqxmd.com/read/29572253/inframe-deletion-of-human-espn-is-associated-with-deafness-vestibulopathy-and-vision-impairment
#11
Zubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, Lili Zheng, Khitab Gul, Shaheen N Khan, Thomas B Friedman, Robert A Sisk, James R Bartles, Sheikh Riazuddin, Saima Riazuddin
BACKGROUND: Usher syndrome (USH) is a neurosensory disorder characterised by deafness, variable vestibular areflexia and vision loss. The aim of the study was to identify the genetic defect in a Pakistani family (PKDF1051) segregating USH. METHODS: Genome-wide linkage analysis was performed by using an Illumina linkage array followed by Sanger and exome sequencing. Heterologous cells and mouse organ of Corti explant-based transfection assays were used for functional evaluations...
March 23, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29545912/more-severe-toxicity-of-genetic-polymorphisms-on-mthfr-activity-in-osteosarcoma-patients-treated-with-high-dose-methotrexate
#12
Lu Xie, Wei Guo, Yi Yang, Tao Ji, Jie Xu
5,10-Methylenetrahydrofolate reductase (MTHFR), a key enzyme for folate metabolism, catalyses the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is located at the end of the short arm (1p36.3). Two common non-synonymous variants, the C677T (Ala222Val) and A1298C (Glu429Ala), were mainly described with decreased enzymatic activity and an alteration of intracellular folate distribution. Osteosarcomas are currently treated with high dose of methotrexate (MTX). The decreased enzyme activity of MTHFR theoretically could increase the drug action of MTX and at the same time increase toxic and side effect...
February 20, 2018: Oncotarget
https://www.readbyqxmd.com/read/29541814/identification-of-de-novo-and-rare-inherited-copy-number-variants-in-children-with-syndromic-congenital-heart-defects
#13
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
June 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29458877/1p-deletion-syndrome-a-prenatal-diagnosis-characterized-by-an-abnormal-1st-trimester-combined-screening-test-yet-a-normal-nipt-result
#14
Chung-Yuan Yang, Chuan-Chi Kao, Shuenn-Dyn Chang, Shih-Yin Huang
OBJECTIVE: To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result. CASE REPORT: A 33-year-old had an abnormal 1st trimester fetal aneuploidy screening result, but no trisomies 13, 18, 21 were detected by the noninvasive prenatal testing. Amniocentesis was performed after ultrasound showed fetal ventriculomegaly and echogenic bowel. The final conventional cytogenetics revealed a karyotype of 46, XX, del(1)(p36)...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29444168/identifying-genetic-risk-loci-for-diabetic-complications-and-showing-evidence-for-heterogeneity-of-type-1-diabetes-based-on-complications-risk
#15
Nandita Mukhopadhyay, Janelle A Noble, Manika Govil, Mary L Marazita, David A Greenberg
There is a growing body of evidence suggesting that type 1 diabetes (T1D) is a genetically heterogeneous disease. However, the extent of this heterogeneity, and what observations may distinguish different forms, is unclear. One indicator may be T1D-related microvascular complications (MVCs), which are familial, but occur in some families, and not others. We tested the hypothesis that T1D plus MVC is genetically distinct from T1D without MCV. We studied 415 families (2,462 individuals, 896 with T1D) using genome-wide linkage analysis, comparing families with and without MVC...
2018: PloS One
https://www.readbyqxmd.com/read/29422604/genome-wide-meta-analysis-identifies-five-new-susceptibility-loci-for-pancreatic-cancer
#16
Alison P Klein, Brian M Wolpin, Harvey A Risch, Rachael Z Stolzenberg-Solomon, Evelina Mocci, Mingfeng Zhang, Federico Canzian, Erica J Childs, Jason W Hoskins, Ashley Jermusyk, Jun Zhong, Fei Chen, Demetrius Albanes, Gabriella Andreotti, Alan A Arslan, Ana Babic, William R Bamlet, Laura Beane-Freeman, Sonja I Berndt, Amanda Blackford, Michael Borges, Ayelet Borgida, Paige M Bracci, Lauren Brais, Paul Brennan, Hermann Brenner, Bas Bueno-de-Mesquita, Julie Buring, Daniele Campa, Gabriele Capurso, Giulia Martina Cavestro, Kari G Chaffee, Charles C Chung, Sean Cleary, Michelle Cotterchio, Frederike Dijk, Eric J Duell, Lenka Foretova, Charles Fuchs, Niccola Funel, Steven Gallinger, J Michael M Gaziano, Maria Gazouli, Graham G Giles, Edward Giovannucci, Michael Goggins, Gary E Goodman, Phyllis J Goodman, Thilo Hackert, Christopher Haiman, Patricia Hartge, Manal Hasan, Peter Hegyi, Kathy J Helzlsouer, Joseph Herman, Ivana Holcatova, Elizabeth A Holly, Robert Hoover, Rayjean J Hung, Eric J Jacobs, Krzysztof Jamroziak, Vladimir Janout, Rudolf Kaaks, Kay-Tee Khaw, Eric A Klein, Manolis Kogevinas, Charles Kooperberg, Matthew H Kulke, Juozas Kupcinskas, Robert J Kurtz, Daniel Laheru, Stefano Landi, Rita T Lawlor, I-Min Lee, Loic LeMarchand, Lingeng Lu, Núria Malats, Andrea Mambrini, Satu Mannisto, Roger L Milne, Beatrice Mohelníková-Duchoňová, Rachel E Neale, John P Neoptolemos, Ann L Oberg, Sara H Olson, Irene Orlow, Claudio Pasquali, Alpa V Patel, Ulrike Peters, Raffaele Pezzilli, Miquel Porta, Francisco X Real, Nathaniel Rothman, Ghislaine Scelo, Howard D Sesso, Gianluca Severi, Xiao-Ou Shu, Debra Silverman, Jill P Smith, Pavel Soucek, Malin Sund, Renata Talar-Wojnarowska, Francesca Tavano, Mark D Thornquist, Geoffrey S Tobias, Stephen K Van Den Eeden, Yogesh Vashist, Kala Visvanathan, Pavel Vodicka, Jean Wactawski-Wende, Zhaoming Wang, Nicolas Wentzensen, Emily White, Herbert Yu, Kai Yu, Anne Zeleniuch-Jacquotte, Wei Zheng, Peter Kraft, Donghui Li, Stephen Chanock, Ofure Obazee, Gloria M Petersen, Laufey T Amundadottir
In 2020, 146,063 deaths due to pancreatic cancer are estimated to occur in Europe and the United States combined. To identify common susceptibility alleles, we performed the largest pancreatic cancer GWAS to date, including 9040 patients and 12,496 controls of European ancestry from the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4). Here, we find significant evidence of a novel association at rs78417682 (7p12/TNS3, P = 4.35 × 10-8 ). Replication of 10 promising signals in up to 2737 patients and 4752 controls from the PANcreatic Disease ReseArch (PANDoRA) consortium yields new genome-wide significant loci: rs13303010 at 1p36...
February 8, 2018: Nature Communications
https://www.readbyqxmd.com/read/29389935/novel-pedigree-analysis-implicates-dna-repair-and-chromatin-remodeling-in-multiple-myeloma-risk
#17
Rosalie G Waller, Todd M Darlington, Xiaomu Wei, Michael J Madsen, Alun Thomas, Karen Curtin, Hilary Coon, Venkatesh Rajamanickam, Justin Musinsky, David Jayabalan, Djordje Atanackovic, S Vincent Rajkumar, Shaji Kumar, Susan Slager, Mridu Middha, Perrine Galia, Delphine Demangel, Mohamed Salama, Vijai Joseph, James McKay, Kenneth Offit, Robert J Klein, Steven M Lipkin, Charles Dumontet, Celine M Vachon, Nicola J Camp
The high-risk pedigree (HRP) design is an established strategy to discover rare, highly-penetrant, Mendelian-like causal variants. Its success, however, in complex traits has been modest, largely due to challenges of genetic heterogeneity and complex inheritance models. We describe a HRP strategy that addresses intra-familial heterogeneity, and identifies inherited segments important for mapping regulatory risk. We apply this new Shared Genomic Segment (SGS) method in 11 extended, Utah, multiple myeloma (MM) HRPs, and subsequent exome sequencing in SGS regions of interest in 1063 MM / MGUS (monoclonal gammopathy of undetermined significance-a precursor to MM) cases and 964 controls from a jointly-called collaborative resource, including cases from the initial 11 HRPs...
February 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29353549/delineation-of-the-frequency-and-boundary-of-chromosomal-copy-number-variations-in-paediatric-neuroblastoma
#18
Nicholas Ho, Hui Peng, Chelsea Mayoh, Pei Y Liu, Bernard Atmadibrata, Glenn M Marshall, Jinyan Li, Tao Liu
Neuroblastoma, the most common solid tumour in early childhood, is characterized by very frequent chromosomal copy number variations (CNVs). While chromosome 2p amplification, 17q gain, 1p and 11q deletion in human neuroblastoma tissues are well-known, the exact frequencies and boundaries of the chromosomal CNVs have not been delineated. We analysed the publicly available single nucleotide polymorphism (SNP) array data which were originally generated by the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) initiative, defined the frequencies and boundaries of chromosomes 2p11...
January 22, 2018: Cell Cycle
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#19
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high-resolution copy number screening in 66 fetuses with neural tube defects, we identified six fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
April 2018: Human Mutation
https://www.readbyqxmd.com/read/29240610/first-case-of-nonalcoholic-steatohepatitis-in-a-child-with-del-1p36-and-dup-xp22-review-of-the-literature
#20
Valerio Nobili, Antonella Mosca, Paola Francalanci, Digilio Maria Cristina, Bruno Dallapiccola
No abstract text is available yet for this article.
April 2018: Clinical Dysmorphology
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