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Literature DB >> 24370740

Enhancer mutations and phenotype modularity.

Christopher T Gordon¹, Stanislas Lyonnet¹.

Abstract

Only a few mutations in regulatory elements that cause human disease have been identified thus far. A new report identifies cis-regulatory mutations that abolish the activity of a developmental enhancer, thereby causing pancreatic agenesis.

Entities: Disease Species

Mesh：

Substances：

Year: 2014 PMID： 24370740 DOI： 10.1038/ng.2861

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

15 in total

Review 1. Pathogenic variants in non-protein-coding sequences.

Authors: P Makrythanasis; S E Antonarakis
Journal: Clin Genet Date: 2013-09-23 Impact factor: 4.438

2. Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

Authors: Ingo Kurth; Eva Klopocki; Sigmar Stricker; Jolieke van Oosterwijk; Sebastian Vanek; Jens Altmann; Heliosa G Santos; Jeske J T van Harssel; Thomy de Ravel; Andrew O M Wilkie; Andreas Gal; Stefan Mundlos
Journal: Nat Genet Date: 2009-08 Impact factor: 38.330

Review 3. Disruption of long-distance highly conserved noncoding elements in neurocristopathies.

Authors: Jeanne Amiel; Sabina Benko; Christopher T Gordon; Stanislas Lyonnet
Journal: Ann N Y Acad Sci Date: 2010-12 Impact factor: 5.691

4. In vivo enhancer analysis of human conserved non-coding sequences.

Authors: Len A Pennacchio; Nadav Ahituv; Alan M Moses; Shyam Prabhakar; Marcelo A Nobrega; Malak Shoukry; Simon Minovitsky; Inna Dubchak; Amy Holt; Keith D Lewis; Ingrid Plajzer-Frick; Jennifer Akiyama; Sarah De Val; Veena Afzal; Brian L Black; Olivier Couronne; Michael B Eisen; Axel Visel; Edward M Rubin
Journal: Nature Date: 2006-11-05 Impact factor: 49.962

Review 5. Enhancers: five essential questions.

Authors: Len A Pennacchio; Wendy Bickmore; Ann Dean; Marcelo A Nobrega; Gill Bejerano
Journal: Nat Rev Genet Date: 2013-04 Impact factor: 53.242

6. Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.

Authors: Yongsu Jeong; Federico Coluccio Leskow; Kenia El-Jaick; Erich Roessler; Maximilian Muenke; Anastasia Yocum; Christele Dubourg; Xue Li; Xin Geng; Guillermo Oliver; Douglas J Epstein
Journal: Nat Genet Date: 2008-10-05 Impact factor: 38.330

Review 7. Long-range control of gene expression: emerging mechanisms and disruption in disease.

Authors: Dirk A Kleinjan; Veronica van Heyningen
Journal: Am J Hum Genet Date: 2004-11-17 Impact factor: 11.025

8. Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly.

Authors: Laura A Lettice; Alison E Hill; Paul S Devenney; Robert E Hill
Journal: Hum Mol Genet Date: 2007-12-21 Impact factor: 6.150

9. An integrated encyclopedia of DNA elements in the human genome.

Authors:
Journal: Nature Date: 2012-09-06 Impact factor: 49.962

10. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

Authors: Michael N Weedon; Ines Cebola; Ann-Marie Patch; Sian Ellard; Jorge Ferrer; Andrew T Hattersley; Sarah E Flanagan; Elisa De Franco; Richard Caswell; Santiago A Rodríguez-Seguí; Charles Shaw-Smith; Candy H-H Cho; Hana Lango Allen; Jayne Al Houghton; Christian L Roth; Rongrong Chen; Khalid Hussain; Phil Marsh; Ludovic Vallier; Anna Murray
Journal: Nat Genet Date: 2013-11-10 Impact factor: 38.330

13 in total

Review 1. Human gene essentiality.

Authors: István Bartha; Julia di Iulio; J Craig Venter; Amalio Telenti
Journal: Nat Rev Genet Date: 2017-10-30 Impact factor: 53.242

2. Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease.

Authors: Timothy J Cherry; Marty G Yang; David A Harmin; Peter Tao; Andrew E Timms; Miriam Bauwens; Rando Allikmets; Evan M Jones; Rui Chen; Elfride De Baere; Michael E Greenberg
Journal: Proc Natl Acad Sci U S A Date: 2020-04-07 Impact factor: 11.205

3. A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line.

Authors: Siddharth Kishore; Elisa De Franco; Fabian L Cardenas-Diaz; Lisa R Letourneau-Freiberg; May Sanyoura; Catherine Osorio-Quintero; Deborah L French; Siri Atma W Greeley; Andrew T Hattersley; Paul Gadue
Journal: Cell Stem Cell Date: 2020-05-21 Impact factor: 24.633

4. The human noncoding genome defined by genetic diversity.

Authors: Julia di Iulio; Istvan Bartha; Emily H M Wong; Hung-Chun Yu; Victor Lavrenko; Dongchan Yang; Inkyung Jung; Michael A Hicks; Naisha Shah; Ewen F Kirkness; Martin M Fabani; William H Biggs; Bing Ren; J Craig Venter; Amalio Telenti
Journal: Nat Genet Date: 2018-02-26 Impact factor: 38.330

Review 5. Regulatory genome variants in human susceptibility to infection.

Authors: Amalio Telenti; Julia di Iulio
Journal: Hum Genet Date: 2019-12-05 Impact factor: 4.132

6. Comparison of chromatin accessibility landscapes during early development of prefrontal cortex between rhesus macaque and human.

Authors: Xuelong Yao; Zongyang Lu; Zhanying Feng; Lei Gao; Xin Zhou; Min Li; Suijuan Zhong; Qian Wu; Zhenbo Liu; Haofeng Zhang; Zeyuan Liu; Lizhi Yi; Tao Zhou; Xudong Zhao; Jun Zhang; Yong Wang; Xingxu Huang; Xiaoqun Wang; Jiang Liu
Journal: Nat Commun Date: 2022-07-06 Impact factor: 17.694

7. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

Authors: Damian Smedley; Max Schubach; Julius O B Jacobsen; Sebastian Köhler; Tomasz Zemojtel; Malte Spielmann; Marten Jäger; Harry Hochheiser; Nicole L Washington; Julie A McMurry; Melissa A Haendel; Christopher J Mungall; Suzanna E Lewis; Tudor Groza; Giorgio Valentini; Peter N Robinson
Journal: Am J Hum Genet Date: 2016-08-25 Impact factor: 11.025