Literature DB >> 29928176

Intragenic Deletions May Involve Enhancer Sequences and Alter CNTNAP2 Expression.

Martin Poot.   

Abstract

Entities:  

Year:  2018        PMID: 29928176      PMCID: PMC6006651          DOI: 10.1159/000489004

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN: 1661-8769


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  22 in total

1.  Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome.

Authors:  Nathaniel D Heintzman; Rhona K Stuart; Gary Hon; Yutao Fu; Christina W Ching; R David Hawkins; Leah O Barrera; Sara Van Calcar; Chunxu Qu; Keith A Ching; Wei Wang; Zhiping Weng; Roland D Green; Gregory E Crawford; Bing Ren
Journal:  Nat Genet       Date:  2007-02-04       Impact factor: 38.330

2.  Antisense may make sense of 1q44 deletions, seizures, and HNRNPU.

Authors:  Martin Poot; Martien J Kas
Journal:  Am J Med Genet A       Date:  2013-03-12       Impact factor: 2.802

3.  Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Authors:  Caroline Nava; Boris Keren; Cyril Mignot; Agnès Rastetter; Sandra Chantot-Bastaraud; Anne Faudet; Eric Fonteneau; Claire Amiet; Claudine Laurent; Aurélia Jacquette; Sandra Whalen; Alexandra Afenjar; Didier Périsse; Diane Doummar; Nathalie Dorison; Marion Leboyer; Jean-Pierre Siffroi; David Cohen; Alexis Brice; Delphine Héron; Christel Depienne
Journal:  Eur J Hum Genet       Date:  2013-05-01       Impact factor: 4.246

4.  Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

Authors:  Christian P Schaaf; Philip M Boone; Srirangan Sampath; Charles Williams; Patricia I Bader; Jennifer M Mueller; Oleg A Shchelochkov; Chester W Brown; Heather P Crawford; James A Phalen; Nicole R Tartaglia; Patricia Evans; William M Campbell; Anne Chun-Hui Tsai; Lea Parsley; Stephanie W Grayson; Angela Scheuerle; Carol D Luzzi; Sandra K Thomas; Patricia A Eng; Sung-Hae L Kang; Ankita Patel; Pawel Stankiewicz; Sau W Cheung
Journal:  Eur J Hum Genet       Date:  2012-05-23       Impact factor: 4.246

5.  A candidate gene association study further corroborates involvement of contactin genes in autism.

Authors:  Martin Poot
Journal:  Mol Syndromol       Date:  2014-05-17

6.  RNA fate determination through cotranscriptional adenosine methylation and microprocessor binding.

Authors:  Philip Knuckles; Sarah H Carl; Michael Musheev; Christof Niehrs; Alice Wenger; Marc Bühler
Journal:  Nat Struct Mol Biol       Date:  2017-06-05       Impact factor: 15.369

7.  Quantitative Dynamics of Chromatin Remodeling during Germ Cell Specification from Mouse Embryonic Stem Cells.

Authors:  Kazuki Kurimoto; Yukihiro Yabuta; Katsuhiko Hayashi; Hiroshi Ohta; Hiroshi Kiyonari; Tadahiro Mitani; Yoshinobu Moritoki; Kenjiro Kohri; Hiroshi Kimura; Takuya Yamamoto; Yuki Katou; Katsuhiko Shirahige; Mitinori Saitou
Journal:  Cell Stem Cell       Date:  2015-03-19       Impact factor: 24.633

Review 8.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Authors:  Martin Poot; Thomas Haaf
Journal:  Mol Syndromol       Date:  2015-08-15

9.  Intragenic enhancers act as alternative promoters.

Authors:  Monika S Kowalczyk; Jim R Hughes; David Garrick; Magnus D Lynch; Jacqueline A Sharpe; Jacqueline A Sloane-Stanley; Simon J McGowan; Marco De Gobbi; Mona Hosseini; Douglas Vernimmen; Jill M Brown; Nicola E Gray; Licio Collavin; Richard J Gibbons; Jonathan Flint; Stephen Taylor; Veronica J Buckle; Thomas A Milne; William G Wood; Douglas R Higgs
Journal:  Mol Cell       Date:  2012-01-19       Impact factor: 17.970

10.  Principles for RNA metabolism and alternative transcription initiation within closely spaced promoters.

Authors:  Yun Chen; Athma A Pai; Jan Herudek; Michal Lubas; Nicola Meola; Aino I Järvelin; Robin Andersson; Vicent Pelechano; Lars M Steinmetz; Torben Heick Jensen; Albin Sandelin
Journal:  Nat Genet       Date:  2016-07-25       Impact factor: 38.330

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