Literature DB >> 9005557

Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13.

S T Warren.   

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Year:  1997        PMID： 9005557     DOI： 10.1126/science.275.5298.408

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


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  24 in total

1.  Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

Authors:  F R Goodman; C Bacchelli; A F Brady; L A Brueton; J P Fryns; D P Mortlock; J W Innis; L B Holmes; A E Donnenfeld; M Feingold; F A Beemer; R C Hennekam; P J Scambler
Journal:  Am J Hum Genet       Date:  2000-06-05       Impact factor: 11.025

Review 2.  Comparative genomics and molecular dynamics of DNA repeats in eukaryotes.

Authors:  Guy-Franck Richard; Alix Kerrest; Bernard Dujon
Journal:  Microbiol Mol Biol Rev       Date:  2008-12       Impact factor: 11.056

Review 3.  On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Authors:  David N Cooper; Albino Bacolla; Claude Férec; Karen M Vasquez; Hildegard Kehrer-Sawatzki; Jian-Min Chen
Journal:  Hum Mutat       Date:  2011-09-02       Impact factor: 4.878

Review 4.  Expanded complexity of unstable repeat diseases.

Authors:  Urszula Polak; Elizabeth McIvor; Sharon Y R Dent; Robert D Wells; Marek Napierala
Journal:  Biofactors       Date:  2012-12-11       Impact factor: 6.113

5.  PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

Authors:  Delphine Trochet; Louise M O'Brien; David Gozal; Ha Trang; Agneta Nordenskjöld; Béatrice Laudier; Pär-Johan Svensson; Sabine Uhrig; Trevor Cole; Stephan Niemann; Arnold Munnich; Claude Gaultier; Stanislas Lyonnet; Jeanne Amiel
Journal:  Am J Hum Genet       Date:  2005-01-18       Impact factor: 11.025

Review 6.  On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.

Authors:  Alexandra N Khristich; Sergei M Mirkin
Journal:  J Biol Chem       Date:  2020-02-14       Impact factor: 5.157

7.  PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.

Authors:  Min-Jung Kwon; Gi-Hyuck Lee; Myoung-Keun Lee; Ji-Youn Kim; Hye Soo Yoo; Chang-Seok Ki; Yun Sil Chang; Jong-Won Kim; Won Soon Park
Journal:  Eur J Pediatr       Date:  2011-03-04       Impact factor: 3.183

8.  Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

Authors:  Xiuli Zhao; Miao Sun; Jin Zhao; J Alfonso Leyva; Hongwen Zhu; Wei Yang; Xuan Zeng; Yang Ao; Qing Liu; Guoyang Liu; Wilson H Y Lo; Ethylin Wang Jabs; L Mario Amzel; Xiangnian Shan; Xue Zhang
Journal:  Am J Hum Genet       Date:  2007-01-03       Impact factor: 11.025

9.  De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.

Authors:  Hiroko Arai; Tesshu Otagiri; Ayako Sasaki; Taeko Hashimoto; Kazuo Umetsu; Katsushi Tokunaga; Kiyoshi Hayasaka
Journal:  J Hum Genet       Date:  2007-10-11       Impact factor: 3.172

10.  Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.

Authors:  Olivier Cocquempot; Véronique Brault; Charles Babinet; Yann Herault
Journal:  Genetics       Date:  2009-06-22       Impact factor: 4.562
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