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https://www.readbyqxmd.com/read/28591699/genetic-heterogeneity-in-leiomyomas-of-deep-soft-tissue
#1
Ioannis Panagopoulos, Ludmila Gorunova, Marta Brunetti, Antonio Agostini, Hege Kilen Andersen, Ingvild Lobmaier, Bodil Bjerkehagen, Sverre Heim
Leiomyoma of deep soft tissue is a rare type of benign smooth muscle tumor that mostly occurs in the retroperitoneum or abdominal cavity of women, and about which very little genetic information exists. In the present study, eight leiomyomas of deep soft tissue were genetically analyzed. G-banding showed that three tumors carried rearrangements of the long arm of chromosome 12, three others had 8q rearrangements, the 7th tumor had deletion of the long arm of chromosome 7, del(7)(q22), and the 8th had aberrations of chromosome bands 3q21~23 and 11q21~22...
May 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28588437/molecular-characterization-of-koolen-de-vries-syndrome-in-two-girls-with-idiopathic-intellectual-disability-from-central-brazil
#2
Gustavo R Nascimento, Irene P Pinto, Aldaires V de Melo, Damiana M da Cruz, Cristiano L Ribeiro, Claudio C da Silva, Aparecido D da Cruz, Lysa B Minasi
Koolen de Vries syndrome (KDVS; MIM 610443) is a genomic disorder caused by a recurrent microdeletion derived from nonallelic homologous recombination mediated by flanking segmental duplications. Clinical manifestations of this syndrome are characterized by intellectual disability, hypotonia, a friendly behavior, distinctive facial features, and epilepsy. Herein, we report a case of 2 girls who revealed global developmental delay, mild facial dysmorphisms, friendly behavior, and epileptic seizure with a de novo 17q21...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28586827/genome-wide-pleiotropy-between-parkinson-disease-and-autoimmune-diseases
#3
Aree Witoelar, Iris E Jansen, Yunpeng Wang, Rahul S Desikan, J Raphael Gibbs, Cornelis Blauwendraat, Wesley K Thompson, Dena G Hernandez, Srdjan Djurovic, Andrew J Schork, Francesco Bettella, David Ellinghaus, Andre Franke, Benedicte A Lie, Linda K McEvoy, Tom H Karlsen, Suzanne Lesage, Huw R Morris, Alexis Brice, Nicholas W Wood, Peter Heutink, John Hardy, Andrew B Singleton, Anders M Dale, Thomas Gasser, Ole A Andreassen, Manu Sharma
Importance: Recent genome-wide association studies (GWAS) and pathway analyses supported long-standing observations of an association between immune-mediated diseases and Parkinson disease (PD). The post-GWAS era provides an opportunity for cross-phenotype analyses between different complex phenotypes. Objectives: To test the hypothesis that there are common genetic risk variants conveying risk of both PD and autoimmune diseases (ie, pleiotropy) and to identify new shared genetic variants and their pathways by applying a novel statistical framework in a genome-wide approach...
June 5, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28496102/partial-microduplication-in-the-histone-acetyltransferase-complex-member-kansl1-is-associated-with-congenital-heart-defects-in-22q11-2-microdeletion-syndrome-patients
#4
Luis E León, Felipe Benavides, Karena Espinoza, Cecilia Vial, Patricia Alvarez, Mirta Palomares, Guillermo Lay-Son, Macarena Miranda, Gabriela M Repetto
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. Patients with the deletion present features that include neuropsychiatric problems, craniofacial abnormalities and cardiovascular malformations. However, the phenotype is highly variable and the factors related to the clinical heterogeneity are not fully understood. About 65% of patients with 22q11...
May 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#5
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
June 2017: Epilepsia
https://www.readbyqxmd.com/read/28423358/characterization-of-fusion-genes-in-common-and-rare-epithelial-ovarian-cancer-histologic-subtypes
#6
Madalene A Earp, Rama Raghavan, Qian Li, Junqiang Dai, Stacey J Winham, Julie M Cunningham, Yanina Natanzon, Kimberly R Kalli, Xiaonan Hou, S John Weroha, Paul Haluska, Kate Lawrenson, Simon A Gayther, Chen Wang, Ellen L Goode, Brooke L Fridley
Gene fusions play a critical role in some cancers and can serve as important clinical targets. In epithelial ovarian cancer (EOC), the contribution of fusions, especially by histological type, is unclear. We therefore screened for recurrent fusions in a histologically diverse panel of 220 EOCs using RNA sequencing. The Pipeline for RNA-Sequencing Data Analysis (PRADA) was used to identify fusions and allow for comparison with The Cancer Genome Atlas (TCGA) tumors. Associations between fusions and clinical prognosis were evaluated using Cox proportional hazards regression models...
April 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28380446/identification-of-kansarl-as-the-first-cancer-predisposition-fusion-gene-specific-to-the-population-of-european-ancestry-origin
#7
Jeff Xiwu Zhou, Xiaoyan Yang, Shunbin Ning, Ling Wang, Kesheng Wang, Yanbin Zhang, Fenghua Yuan, Fengli Li, David D Zhuo, Liren Tang, Degen Zhuo
Gene fusion is one of the hallmarks of cancer. Recent advances in RNA-seq of cancer transcriptomes have facilitated the discovery of fusion transcripts. In this study, we report identification of a surprisingly large number of fusion transcripts, including six KANSARL (KANSL1-ARL17A) transcripts that resulted from the fusion between the KANSL1 and ARL17A genes using a RNA splicingcode model. Five of these six KANSARL fusion transcripts are novel. By systematic analysis of RNA-seq data of glioblastoma, prostate cancer, lung cancer, breast cancer, and lymphoma from different regions of the World, we have found that KANSARL fusion transcripts were rarely detected in the tumors of individuals from Asia or Africa...
March 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28323226/herc1-mutations-in-idiopathic-intellectual-disability
#8
G Eda Utine, Ekim Z Taşkıran, Can Koşukcu, Beren Karaosmanoğlu, Naz Güleray, Özlem Akgün Doğan, P Özlem Şimşek Kiper, Koray Boduroğlu, Mehmet Alikaşifoğlu
HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab family GTPases. Biallelic mutations in HERC1 were recently shown to cause a human phenotype with overgrowth and intellectual disability as main features. Herein we describe clinical features in another patient with homozygous novel mutation in HERC1. Moderate to severe intellectual disability, hypotonia, macrocephaly, tall stature, and facial features appear as main clinical features of the condition...
May 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28211987/10-year-old-female-with-intragenic-kansl1-mutation-no-kansl1-related-intellectual-disability-and-preserved-verbal-intelligence
#9
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, Elaine H Zackai
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27956742/17q21-31-duplication-causes-prominent-tau-related-dementia-with-increased-mapt-expression
#10
K Le Guennec, O Quenez, G Nicolas, D Wallon, S Rousseau, A-C Richard, J Alexander, P Paschou, C Charbonnier, C Bellenguez, B Grenier-Boley, D Lechner, M-T Bihoreau, R Olaso, A Boland, V Meyer, J-F Deleuze, P Amouyel, H M Munter, G Bourque, M Lathrop, T Frebourg, R Redon, L Letenneur, J-F Dartigues, O Martinaud, O Kalev, S Mehrabian, L Traykov, T Ströbel, I Le Ber, P Caroppo, S Epelbaum, T Jonveaux, F Pasquier, A Rollin-Sillaire, E Génin, L Guyant-Maréchal, G G Kovacs, J-C Lambert, D Hannequin, D Campion, A Rovelet-Lecrux
To assess the role of rare copy number variations in Alzheimer's disease (AD), we conducted a case-control study using whole-exome sequencing data from 522 early-onset cases and 584 controls. The most recurrent rearrangement was a 17q21.31 microduplication, overlapping the CRHR1, MAPT, STH and KANSL1 genes that was found in four cases, including one de novo rearrangement, and was absent in controls. The increased MAPT gene dosage led to a 1.6-1.9-fold expression of the MAPT messenger RNA. Clinical signs, neuroimaging and cerebrospinal fluid biomarker profiles were consistent with an AD diagnosis in MAPT duplication carriers...
December 13, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27852077/koolen-de-vries-syndrome-clinical-report-of-an-adult-and-literature-review
#11
REVIEW
Claudia Ciaccio, Chiara Dordoni, Marco Ritelli, Marina Colombi
Koolen-de Vries syndrome (KdS) is a rare genetic condition characterized by typical facial dysmorphisms, cardiac and renal defects, skeletal anomalies, developmental delay, and intellectual disability of variable level. It is caused by a 440-680-kb deletion in the 17q21.31 region, encompassing CRHR1, MAPT, IMP5, STH, and KANSL1, or by an intragenic KANSL1 mutation. The majority of the patients reported are pediatric or young adults, and long-term studies able to define the prognosis of the disease are lacking...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/26424144/intragenic-kansl1-mutations-and-chromosome-17q21-31-deletions-broadening-the-clinical-spectrum-and-genotype-phenotype-correlations-in-a-large-cohort-of-patients
#12
Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi, Daniela Orteschi, Stefania Ricciardi, Serena Lattante, Marina Murdolo, Domenica Battaglia, Ilaria Contaldo, Eugenio Mercuri, Maria Chiara Stefanini, Roseline Caumes, Patrick Edery, Massimiliano Rossi, Maria Piccione, Giovanni Corsello, Matteo Della Monica, Francesca Scarano, Manuela Priolo, Mattia Gentile, Giuseppe Zampino, Raymon Vijzelaar, Omar Abdulrahman, Anita Rauch, Beatrice Oneda, Matthew A Deardorff, Sulagna C Saitta, Marni J Falk, Holly Dubbs, Elaine Zackai
BACKGROUND: The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reported. Prevalence of chromosome deletions compared with point mutations, genotype-phenotype correlations and phenotypic variability have yet to be fully clarified. METHODS: We report genotype-phenotype correlations in 27 novel subjects with 17q21...
December 2015: Journal of Medical Genetics
https://www.readbyqxmd.com/read/26423011/novel-insights-into-the-genetics-of-smoking-behaviour-lung-function-and-chronic-obstructive-pulmonary-disease-uk-bileve-a-genetic-association-study-in-uk-biobank
#13
Louise V Wain, Nick Shrine, Suzanne Miller, Victoria E Jackson, Ioanna Ntalla, María Soler Artigas, Charlotte K Billington, Abdul Kader Kheirallah, Richard Allen, James P Cook, Kelly Probert, Ma'en Obeidat, Yohan Bossé, Ke Hao, Dirkje S Postma, Peter D Paré, Adaikalavan Ramasamy, Reedik Mägi, Evelin Mihailov, Eva Reinmaa, Erik Melén, Jared O'Connell, Eleni Frangou, Olivier Delaneau, Colin Freeman, Desislava Petkova, Mark McCarthy, Ian Sayers, Panos Deloukas, Richard Hubbard, Ian Pavord, Anna L Hansell, Neil C Thomson, Eleftheria Zeggini, Andrew P Morris, Jonathan Marchini, David P Strachan, Martin D Tobin, Ian P Hall
BACKGROUND: Understanding the genetic basis of airflow obstruction and smoking behaviour is key to determining the pathophysiology of chronic obstructive pulmonary disease (COPD). We used UK Biobank data to study the genetic causes of smoking behaviour and lung health. METHODS: We sampled individuals of European ancestry from UK Biobank, from the middle and extremes of the forced expiratory volume in 1 s (FEV1) distribution among heavy smokers (mean 35 pack-years) and never smokers...
October 2015: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/26306646/the-koolen-de-vries-syndrome-a-phenotypic-comparison-of-patients-with-a-17q21-31-microdeletion-versus-a-kansl1-sequence-variant
#14
David A Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E Veenstra-Knol, Jessie H Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah Dugan, Sara Halbach, Omar A Abdul-Rahman, Heather M Winesett, Wendy K Chung, Marguerite Dalton, Petia S Dimova, Teresa Mattina, Katrina Prescott, Hui Z Zhang, Howard M Saal, Jayne Y Hehir-Kwa, Marjolein H Willemsen, Charlotte W Ockeloen, Marjolijn C Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S Brooks, Sarina G Kant, Erica H Gerkes, Helen V Firth, Katrin Õunap, Lynne M Bird, Diane Masser-Frye, Jennifer R Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, Mary K Kukolich, Julie McGaughran, Bradley P Coe, Jesús Flórez, Nael Nadif Kasri, Han G Brunner, Elizabeth M Thompson, Jozef Gecz, Corrado Romano, Evan E Eichler, Bert B A de Vries
The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive language development is particularly impaired compared with receptive language or motor skills. Other frequently reported features include social and friendly behaviour, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies...
May 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/26293599/kansl1-gene-disruption-associated-with-the-full-clinical-spectrum-of-17q21-31-microdeletion-syndrome
#15
María Moreno-Igoa, Blanca Hernández-Charro, Amaya Bengoa-Alonso, Aranzazu Pérez-Juana-del-Casal, Carlos Romero-Ibarra, Beatriz Nieva-Echebarria, María Antonia Ramos-Arroyo
BACKGROUND: Chromosome 17q21.31 microdeletion syndrome is a multisystem genomic disorder caused by a recurrent 600-kb-long deletion, or haploinsufficiency of the chromatin modifier gene KANSL1, which maps to that region. Patients with KANSL1 intragenic mutations have been reported to display the major clinical features of 17q21.31 microdeletion syndrome. However, they did not exhibit the full clinical spectrum of this disorder, which might indicate that an additional gene or genes, located in the 17q21...
2015: BMC Medical Genetics
https://www.readbyqxmd.com/read/26243146/an-epigenetic-regulator-emerges-as-microtubule-minus-end-binding-and-stabilizing-factor-in-mitosis
#16
Sylvain Meunier, Maria Shvedunova, Nhuong Van Nguyen, Leonor Avila, Isabelle Vernos, Asifa Akhtar
The evolutionary conserved NSL complex is a prominent epigenetic regulator controlling expression of thousands of genes. Here we uncover a novel function of the NSL complex members in mitosis. As the cell enters mitosis, KANSL1 and KANSL3 undergo a marked relocalisation from the chromatin to the mitotic spindle. By stabilizing microtubule minus ends in a RanGTP-dependent manner, they are essential for spindle assembly and chromosome segregation. Moreover, we identify KANSL3 as a microtubule minus-end-binding protein, revealing a new class of mitosis-specific microtubule minus-end regulators...
2015: Nature Communications
https://www.readbyqxmd.com/read/25875009/fusion-of-the-genes-ewsr1-and-pbx3-in-retroperitoneal-leiomyoma-with-t-9-22-q33-q12
#17
Ioannis Panagopoulos, Ludmila Gorunova, Bodil Bjerkehagen, Sverre Heim
Retroperitoneal leiomyoma is a rare benign smooth muscle tumor almost exclusively found in women and with histopathological features similar to uterine leiomyomas. The pathogenesis of retroperitoneal leiomyoma is unclear and next to nothing is known about the cytogenetics and molecular genetics of the tumor. We present here a retroperitoneal leiomyoma with a t(9;22)(q33;q12) as the sole karyotypic aberration. The translocation resulted in an EWSR1-PBX3 fusion gene in which exon 9 of EWSR1 (nucleotide 1320 accession number NM_013986 version 3) was in-frame fused to exon 5 of PBX3 (nucleotide 824 accession number NM_006195 version 5)...
2015: PloS One
https://www.readbyqxmd.com/read/25778476/a-novel-alzheimer-disease-locus-located-near-the-gene-encoding-tau-protein
#18
G Jun, C A Ibrahim-Verbaas, M Vronskaya, J-C Lambert, J Chung, A C Naj, B W Kunkle, L-S Wang, J C Bis, C Bellenguez, D Harold, K L Lunetta, A L Destefano, B Grenier-Boley, R Sims, G W Beecham, A V Smith, V Chouraki, K L Hamilton-Nelson, M A Ikram, N Fievet, N Denning, E R Martin, H Schmidt, Y Kamatani, M L Dunstan, O Valladares, A R Laza, D Zelenika, A Ramirez, T M Foroud, S-H Choi, A Boland, T Becker, W A Kukull, S J van der Lee, F Pasquier, C Cruchaga, D Beekly, A L Fitzpatrick, O Hanon, M Gill, R Barber, V Gudnason, D Campion, S Love, D A Bennett, N Amin, C Berr, Magda Tsolaki, J D Buxbaum, O L Lopez, V Deramecourt, N C Fox, L B Cantwell, L Tárraga, C Dufouil, J Hardy, P K Crane, G Eiriksdottir, D Hannequin, R Clarke, D Evans, T H Mosley, L Letenneur, C Brayne, W Maier, P De Jager, V Emilsson, J-F Dartigues, H Hampel, M I Kamboh, R F A G de Bruijn, C Tzourio, P Pastor, E B Larson, J I Rotter, M C O'Donovan, T J Montine, M A Nalls, S Mead, E M Reiman, P V Jonsson, C Holmes, P H St George-Hyslop, M Boada, P Passmore, J R Wendland, R Schmidt, K Morgan, A R Winslow, J F Powell, M Carasquillo, S G Younkin, J Jakobsdóttir, J S K Kauwe, K C Wilhelmsen, D Rujescu, M M Nöthen, A Hofman, L Jones, J L Haines, B M Psaty, C Van Broeckhoven, P Holmans, L J Launer, R Mayeux, M Lathrop, A M Goate, V Escott-Price, S Seshadri, M A Pericak-Vance, P Amouyel, J Williams, C M van Duijn, G D Schellenberg, L A Farrer
APOE ɛ4, the most significant genetic risk factor for Alzheimer disease (AD), may mask effects of other loci. We re-analyzed genome-wide association study (GWAS) data from the International Genomics of Alzheimer's Project (IGAP) Consortium in APOE ɛ4+ (10 352 cases and 9207 controls) and APOE ɛ4- (7184 cases and 26 968 controls) subgroups as well as in the total sample testing for interaction between a single-nucleotide polymorphism (SNP) and APOE ɛ4 status. Suggestive associations (P<1 × 10(-4)) in stage 1 were evaluated in an independent sample (stage 2) containing 4203 subjects (APOE ɛ4+: 1250 cases and 536 controls; APOE ɛ4-: 718 cases and 1699 controls)...
January 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/25621995/novel-kat6b-kansl1-fusion-gene-identified-by-rna-sequencing-in-retroperitoneal-leiomyoma-with-t-10-17-q22-q21
#19
Ioannis Panagopoulos, Ludmila Gorunova, Bodil Bjerkehagen, Sverre Heim
Retroperitoneal leiomyoma is a rare type of benign smooth muscle tumor almost exclusively found in women and with histopathological features similar to uterine leiomyomas. The pathogenesis of retroperitoneal leiomyoma is unclear and next to nothing is known about the cytogenetics and molecular genetics of the tumor. Here we present the first cytogenetically analyzed retroperitoneal leiomyoma. It had a t(10;17)(q22;q21) as the sole chromosomal abnormality. Using RNA-Sequencing and the 'grep' command to search the fastq files of the sequence data we found that the translocation resulted in fusion of the genes KAT6B (10q22) with KANSL1 (17q21)...
2015: PloS One
https://www.readbyqxmd.com/read/24788516/structural-analysis-of-the-kansl1-wdr5-kansl2-complex-reveals-that-wdr5-is-required-for-efficient-assembly-and-chromatin-targeting-of-the-nsl-complex
#20
Jorge Dias, Nhuong Van Nguyen, Plamen Georgiev, Aline Gaub, Janine Brettschneider, Stephen Cusack, Jan Kadlec, Asifa Akhtar
The subunits of the nonspecific lethal (NSL) complex, which include the histone acetyltransferase MOF (males absent on the first), play important roles in various cellular functions, including transcription regulation and stem cell identity maintenance and reprogramming, and are frequently misregulated in disease. Here, we provide the first biochemical and structural insights into the molecular architecture of this large multiprotein assembly. We identified several direct interactions within the complex and show that KANSL1 acts as a scaffold protein interacting with four other subunits, including WDR5, which in turn binds KANSL2...
May 1, 2014: Genes & Development
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