Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

Autor: Weihua Zeng, Jessica C de Greef, Yen-Yun Chen, Richard Chien, Xiangduo Kong, Heather C Gregson, Sara T Winokur, April Pyle, Keith D Robertson, John A Schmiesing, Virginia E Kimonis, Judit Balog, Rune R Frants, Alexander R Ball, Leslie F Lock, Peter J Donovan, Silvère M van der Maarel, Kyoko Yokomori

Publikováno v: PLoS Genetics, Vol 5, Iss 7, p e1000559 (2009)

Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in the number of 3.3 kb D4Z4

Externí odkaz: https://doaj.org/article/79fbf42c8f214f03adcf8266e53ad4ab

DUX4 , a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

Autor: Anne Marie Van Acker, Frédérique Coppée, Alexandra Belayew, Dalila Laoudj-Chenivesse, Marietta Barro, Alexandra Tassin, Rongye Shi, Sébastien Sauvage, Christel Matteotti, Manjusha Dixit, Oberdan Leo, Eugénie Ansseau, Denise A. Figlewicz, Sara T. Winokur, Hong Qian, Yi-Wen Chen

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2007, 104 (46), pp.18157-18162. ⟨10.1073/pnas.0708659104⟩

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder linked to contractions of the D4Z4 repeat array in the subtelomeric region of chromosome 4q. By comparing genome-wide gene expression data from muscle biopsies of patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f377006e8ea0b1b02e6e85214011b49
https://doi.org/10.1073/pnas.0708659104

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Autor: Sara T. Winokur, Missag H. Parseghian, Robert L. Newcomb, Barbara A. Hamkalo

Publikováno v: Chromosome Research. 8:405-424

Chromatin immunoprecipitation was employed to determine whether or not the previously reported depletion of histone H1 on actively transcribed sequences was selective with respect to H1 subtypes. DNA of immunofractionated chromatin was analyzed by sl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::12b3989d63b59c295b0be0a34705f174
https://doi.org/10.1023/a:1009262819961

The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region [published erratum appears in Hum Mol Genet 1997 Mar;6(3):502]

Autor: Julie C. Vargas, John J. Wasmuth, Michael R. Altherr, Ulla Bengtsson, Sara T. Winokur

Publikováno v: Human Molecular Genetics. 5:1567-1575

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disease that has been linked to deletions within a tandem array of 3.2 kb repeats adjacent to the telomere of 4q. These repeats are also present in other locations i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6c90b4ece5a20fec1cd4025e4bd83f05
https://doi.org/10.1093/hmg/5.10.1567

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Autor: Rita Shiang, Thomas J. Fielder, Maureen Bocian, Ya-Zhen Zhu, Leslie M. Thompson, Sara T. Winokur, Deanna M. Church, John J. Wasmuth

Publikováno v: Cell. 78:335-342

Achondroplasia (ACH) is the most common genetic form of dwarfism. This disorder is inherited as an autosomal dominant trait, although the majority of cases are sporadic. A gene for ACH was recently localized to 4p16.3 by linkage analyses. The ACH can

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5146dc46f67f7de8e21d0898efa3214
https://doi.org/10.1016/0092-8674(94)90302-6