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Science Advances|June 3, 2021
Prdm16-mediated H3K9 methylation controls fibro-adipogenic progenitors identity during skeletal muscle repairBeatrice Biferali, Valeria Bianconi, Daniel Fernandez Perez, et al.
American Journal of Human Genetics|July 11, 2006
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitKatrin Hoffmann, Juliane S Muller, Sigmar Stricker, et al.
NPJ Regenerative Medicine|April 5, 2023
Odd skipped-related 1 controls the pro-regenerative response of fibro-adipogenic progenitorsGeorgios Kotsaris, Taimoor H Qazi, Christian H Bucher, et al.
American Journal of Human Genetics|August 10, 2010
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndromeFrancesco Brancati, Paola Fortugno, Irene Bottillo, et al.
Development (Cambridge, England)|March 21, 2008
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndromeRegina Raz, Sigmar Stricker, Elizabetta Gazzerro, et al.
Annals of Neurology|May 29, 2015
Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophyVirginie Mariot, Stephane Roche, Christophe Hourdé, et al.
Human Molecular Genetics|February 26, 2015
Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus modelThorsten Pfirrmann, Denise Emmerich, Peter Ruokonen, et al.
Nature Communications|November 1, 2017
Odd skipped-related 1 identifies a population of embryonic fibro-adipogenic progenitors regulating myogenesis during limb developmentPedro Vallecillo-García, Mickael Orgeur, Sophie Vom Hofe-Schneider, et al.
Nucleus (Austin, Tex.)|February 18, 2011
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane proteinPeter Clayton, Björn Fischer, Anuska Mann, et al.
Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
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