Literature DB >> 24129436

Looking for CDKN1C enhancers.

Flavia Cerrato1, Agostina De Crescenzo1, Andrea Riccio2.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 24129436      PMCID： PMC3953923          DOI： 10.1038/ejhg.2013.234

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  15 in total

1.  Aligning multiple genomic sequences with the threaded blockset aligner.

Authors:  Mathieu Blanchette; W James Kent; Cathy Riemer; Laura Elnitski; Arian F A Smit; Krishna M Roskin; Robert Baertsch; Kate Rosenbloom; Hiram Clawson; Eric D Green; David Haussler; Webb Miller
Journal:  Genome Res       Date:  2004-04       Impact factor: 9.043

2.  Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome.

Authors:  R M John; J F Ainscough; S C Barton; M A Surani
Journal:  Hum Mol Genet       Date:  2001-07-15       Impact factor: 6.150

3.  The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.

Authors:  Nicoletta Chiesa; Agostina De Crescenzo; Kankadeb Mishra; Lucia Perone; Massimo Carella; Orazio Palumbo; Alessandro Mussa; Angela Sparago; Flavia Cerrato; Silvia Russo; Elisabetta Lapi; Maria Vittoria Cubellis; Chandrasekhar Kanduri; Margherita Cirillo Silengo; Andrea Riccio; Giovanni Battista Ferrero
Journal:  Hum Mol Genet       Date:  2011-09-14       Impact factor: 6.150

4.  The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.

Authors:  Nadine Schönherr; Esther Meyer; Andreas Roos; Angela Schmidt; Hartmut A Wollmann; Thomas Eggermann
Journal:  J Med Genet       Date:  2006-09-08       Impact factor: 6.318

5.  New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

Authors:  Julie Demars; Sylvie Rossignol; Irène Netchine; Kai Syin Lee; Mansur Shmela; Laurence Faivre; Jacques Weill; Sylvie Odent; Salah Azzi; Patrick Callier; Josette Lucas; Christèle Dubourg; Joris Andrieux; Yves Le Bouc; Assam El-Osta; Christine Gicquel
Journal:  Hum Mutat       Date:  2011-09-08       Impact factor: 4.878

6.  Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

Authors:  N Neyroud; P Richard; N Vignier; C Donger; I Denjoy; L Demay; M Shkolnikova; R Pesce; P Chevalier; B Hainque; P Coumel; K Schwartz; P Guicheney
Journal:  Circ Res       Date:  1999-02-19       Impact factor: 17.367

7.  Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome.

Authors:  Emily L Niemitz; Michael R DeBaun; Jonathan Fallon; Kazuhiro Murakami; Hiroyuki Kugoh; Mitsuo Oshimura; Andrew P Feinberg
Journal:  Am J Hum Genet       Date:  2004-09-15       Impact factor: 11.025

8.  VISTA: computational tools for comparative genomics.

Authors:  Kelly A Frazer; Lior Pachter; Alexander Poliakov; Edward M Rubin; Inna Dubchak
Journal:  Nucleic Acids Res       Date:  2004-07-01       Impact factor: 16.971

9.  Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.

Authors:  Fiorella Gurrieri; Marcella Zollino; Antonio Oliva; Vincenzo Pascali; Daniela Orteschi; Roberta Pietrobono; Antonella Camporeale; Monica Coll Vidal; Sara Partemi; Ramon Brugada; Fulvio Bellocci; Giovanni Neri
Journal:  Eur J Hum Genet       Date:  2013-03-20       Impact factor: 4.246

10.  CTCF-mediated functional chromatin interactome in pluripotent cells.

Authors:  Lusy Handoko; Han Xu; Guoliang Li; Chew Yee Ngan; Elaine Chew; Marie Schnapp; Charlie Wah Heng Lee; Chaopeng Ye; Joanne Lim Hui Ping; Fabianus Mulawadi; Eleanor Wong; Jianpeng Sheng; Yubo Zhang; Thompson Poh; Chee Seng Chan; Galih Kunarso; Atif Shahab; Guillaume Bourque; Valere Cacheux-Rataboul; Wing-Kin Sung; Yijun Ruan; Chia-Lin Wei
Journal:  Nat Genet       Date:  2011-06-19       Impact factor: 38.330
View more
  10 in total

1.  Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.

Authors:  Maria Francesca Bedeschi; Mariarosaria Calvello; Leda Paganini; Lidia Pezzani; Marco Baccarin; Laura Fontana; Silvia M Sirchia; Silvana Guerneri; Lorena Canazza; Ernesto Leva; Lorenzo Colombo; Faustina Lalatta; Fabio Mosca; Silvia Tabano; Monica Miozzo
Journal:  BMC Med Genet       Date:  2017-10-18       Impact factor: 2.103

2.  A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith-Wiedemann syndrome.

Authors:  Jasmin Beygo; Ivana Joksic; Tim M Strom; Hermann-Josef Lüdecke; Julia Kolarova; Reiner Siebert; Zeljko Mikovic; Bernhard Horsthemke; Karin Buiting
Journal:  Eur J Hum Genet       Date:  2016-02-03       Impact factor: 4.246

Review 3.  Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Authors:  Frédéric Brioude; Jennifer M Kalish; Alessandro Mussa; Alison C Foster; Jet Bliek; Giovanni Battista Ferrero; Susanne E Boonen; Trevor Cole; Robert Baker; Monica Bertoletti; Guido Cocchi; Carole Coze; Maurizio De Pellegrin; Khalid Hussain; Abdulla Ibrahim; Mark D Kilby; Malgorzata Krajewska-Walasek; Christian P Kratz; Edmund J Ladusans; Pablo Lapunzina; Yves Le Bouc; Saskia M Maas; Fiona Macdonald; Katrin Õunap; Licia Peruzzi; Sylvie Rossignol; Silvia Russo; Caroleen Shipster; Agata Skórka; Katrina Tatton-Brown; Jair Tenorio; Chiara Tortora; Karen Grønskov; Irène Netchine; Raoul C Hennekam; Dirk Prawitt; Zeynep Tümer; Thomas Eggermann; Deborah J G Mackay; Andrea Riccio; Eamonn R Maher
Journal:  Nat Rev Endocrinol       Date:  2018-01-29       Impact factor: 43.330

4.  The role of CTCF in the organization of the centromeric 11p15 imprinted domain interactome.

Authors:  Natali S Sobel Naveh; Daniel F Deegan; Jacklyn Huhn; Emily Traxler; Yemin Lan; Rosanna Weksberg; Arupa Ganguly; Nora Engel; Jennifer M Kalish
Journal:  Nucleic Acids Res       Date:  2021-06-21       Impact factor: 16.971

5.  A novel large deletion of the ICR1 region including H19 and putative enhancer elements.

Authors:  Helen Fryssira; Stella Amenta; Deniz Kanber; Christalena Sofocleous; Evangelia Lykopoulou; Christina Kanaka-Gantenbein; Flavia Cerrato; Hermann-Josef Lüdecke; Susanne Bens; Andrea Riccio; Karin Buiting
Journal:  BMC Med Genet       Date:  2015-05-06       Impact factor: 2.103

6.  Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.

Authors:  Thomas Eggermann; Matthias Begemann; Lutz Pfeiffer
Journal:  Clin Epigenetics       Date:  2021-02-04       Impact factor: 6.551

7.  Glucocorticoid receptor triggers a reversible drug-tolerant dormancy state with acquired therapeutic vulnerabilities in lung cancer.

Authors:  Stefan Prekovic; Karianne Schuurman; Isabel Mayayo-Peralta; Anna G Manjón; Mark Buijs; Selçuk Yavuz; Max D Wellenstein; Alejandro Barrera; Kim Monkhorst; Anne Huber; Ben Morris; Cor Lieftink; Theofilos Chalkiadakis; Ferhat Alkan; Joana Silva; Balázs Győrffy; Liesbeth Hoekman; Bram van den Broek; Hans Teunissen; Donna O Debets; Tesa Severson; Jos Jonkers; Timothy Reddy; Karin E de Visser; William Faller; Roderick Beijersbergen; Maarten Altelaar; Elzo de Wit; Rene Medema; Wilbert Zwart
Journal:  Nat Commun       Date:  2021-07-16       Impact factor: 14.919

Review 8.  Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

Authors:  Thomas Eggermann; Guiomar Perez de Nanclares; Eamonn R Maher; I Karen Temple; Zeynep Tümer; David Monk; Deborah J G Mackay; Karen Grønskov; Andrea Riccio; Agnès Linglart; Irène Netchine
Journal:  Clin Epigenetics       Date:  2015-11-14       Impact factor: 6.551

9.  Epigenetic Characterization of CDKN1C in Placenta Samples from Non-syndromic Intrauterine Growth Restriction.

Authors:  Miriam López-Abad; Isabel Iglesias-Platas; David Monk
Journal:  Front Genet       Date:  2016-04-26       Impact factor: 4.599

10.  Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

Authors:  Susanne Eriksen Boonen; Andrea Freschi; Rikke Christensen; Federica Maria Valente; Dorte Launholt Lildballe; Lucia Perone; Orazio Palumbo; Massimo Carella; Niels Uldbjerg; Angela Sparago; Andrea Riccio; Flavia Cerrato
Journal:  Clin Epigenetics       Date:  2016-06-16       Impact factor: 6.551
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.