Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma

Autor: Per Johnsson, Margaret A. Tucker, Jiwei Gao, Noémi Nagy, Hanna Eriksson, Joakim Lundeberg, Nicholas P. Tobin, Pär G. Engström, Yitian Zhou, Rong Yu, Jian Zhao, Yihai Cao, Kim Thrane, Veronica Höiom, Muyi Yang, Alisa M. Goldstein, Rainer Tuominen, suzanne Egyhazi-Brage, Lars Bräutigam, Xiaohong R. Yang

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 24(1)

Purpose More than half of the familial cutaneous melanomas have unknown genetic predisposition. This study aims at characterizing a novel melanoma susceptibility gene. Methods We performed exome and targeted sequencing in melanoma-prone families with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4642417f58e2bf4c2c1d5945221b6d55
https://pubmed.ncbi.nlm.nih.gov/34906508

RNAi screen indicates widespread biological function for human natural antisense transcripts.

Autor: Mohammad Ali Faghihi, Jannet Kocerha, Farzaneh Modarresi, Pär G Engström, Alistair M Chalk, Shaun P Brothers, Eric Koesema, Georges St Laurent, Claes Wahlestedt

Publikováno v: PLoS ONE, Vol 5, Iss 10 (2010)

Natural antisense transcripts represent a class of regulatory RNA molecules, which are characterized by their complementary sequence to another RNA transcript. Extensive sequencing efforts suggest that natural antisense transcripts are prevalent thro

Externí odkaz: https://doaj.org/article/b04b4709a27a49fba293d026a707c02a

Mammalian microRNA prediction through a support vector machine model of sequence and structure.

Autor: Ying Sheng, Pär G Engström, Boris Lenhard

Publikováno v: PLoS ONE, Vol 2, Iss 9, p e946 (2007)

BACKGROUND: MicroRNAs (miRNAs) are endogenous small noncoding RNA gene products, on average 22 nt long, found in a wide variety of organisms. They play important regulatory roles by targeting mRNAs for degradation or translational repression. There a

Externí odkaz: https://doaj.org/article/705137c0045544bf8c71bd012c43a46d

Complex Loci in human and mouse genomes.

Autor: Pär G Engström, Harukazu Suzuki, Noriko Ninomiya, Altuna Akalin, Luca Sessa, Giovanni Lavorgna, Alessandro Brozzi, Lucilla Luzi, Sin Lam Tan, Liang Yang, Galih Kunarso, Edwin Lian-Chong Ng, Serge Batalov, Claes Wahlestedt, Chikatoshi Kai, Jun Kawai, Piero Carninci, Yoshihide Hayashizaki, Christine Wells, Vladimir B Bajic, Valerio Orlando, James F Reid, Boris Lenhard, Leonard Lipovich

Publikováno v: PLoS Genetics, Vol 2, Iss 4, p e47 (2006)

Mammalian genomes harbor a larger than expected number of complex loci, in which multiple genes are coupled by shared transcribed regions in antisense orientation and/or by bidirectional core promoters. To determine the incidence, functional signific

Externí odkaz: https://doaj.org/article/b98bcc6724cf40cdabf42933acd063ca

Interaction of Sox2 with RNA binding proteins in mouse embryonic stem cells

Autor: Samuel Robson, Samudyata, Paulo P. Amaral, Pär G. Engström, Michael L. Nielsen, Gonçalo Castelo-Branco, Tony Kouzarides

Publikováno v: Exp Cell Res
Samudyata, Amaral, P P, Engström, P G, Robson, S C, Nielsen, M L, Kouzarides, T & Castelo-Branco, G 2019, ' Interaction of Sox2 with RNA binding proteins in mouse embryonic stem cells ', Experimental Cell Research, vol. 381, no. 1, pp. 129-138 . https://doi.org/10.1016/j.yexcr.2019.05.006

Sox2 is a master transcriptional regulator of embryonic development. In this study, we determined the protein interactome of Sox2 in the chromatin and nucleoplasm of mouse embryonic stem (mES) cells. Apart from canonical interactions with pluripotenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dadda5488a5e0174a88dbfeeda1dad6
https://europepmc.org/articles/PMC6994247/