Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Martin Oti"'
Autor:
Ya-Chien Chan, Eike Kienle, Martin Oti, Antonella Di Liddo, Maria Mendez-Lago, Dominik F. Aschauer, Manuel Peter, Michaela Pagani, Cosmas Arnold, Andreas Vonderheit, Christian Schön, Sebastian Kreuz, Alexander Stark, Simon Rumpel
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-19 (2023)
Abstract Enhancers are important cis-regulatory elements controlling cell-type specific expression patterns of genes. Furthermore, combinations of enhancers and minimal promoters are utilized to construct small, artificial promoters for gene delivery
Externí odkaz:
https://doaj.org/article/affa02ed88a1427f95b54b6dbac3c570
Autor:
Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
Publikováno v:
Disease Models & Mechanisms, Vol 10, Iss 2, Pp 105-118 (2017)
A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequ
Externí odkaz:
https://doaj.org/article/61e74f9ef396439ebd381addcbedf971
Autor:
Eduardo B. Carvalho, Isalira P. R. Ramos, Alvaro F. S. Nascimento, Guilherme V. Brasil, Debora B. Mello, Martin Oti, Michael Sammeth, Maria T. Bahia, Antonio C. Campos de Carvalho, Adriana B. Carvalho
Publikováno v:
Frontiers in Cellular and Infection Microbiology, Vol 9 (2019)
Background: The failure to translate preclinical results to the clinical setting is the rule, not the exception. One reason that is frequently overlooked is whether the animal model reproduces distinctive features of human disease. Another is the rep
Externí odkaz:
https://doaj.org/article/bb871b42c5ed4488b874416d203a9e39
Autor:
Jieqiong Qu, Sabine E.J. Tanis, Jos P.H. Smits, Evelyn N. Kouwenhoven, Martin Oti, Ellen H. van den Bogaard, Colin Logie, Hendrik G. Stunnenberg, Hans van Bokhoven, Klaas W. Mulder, Huiqing Zhou
Publikováno v:
Cell Reports, Vol 25, Iss 12, Pp 3490-3503.e4 (2018)
Summary: Transcription factor p63 is a key regulator of epidermal keratinocyte proliferation and differentiation. Mutations in the p63 DNA-binding domain are associated with ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome. How
Externí odkaz:
https://doaj.org/article/6919d3e388824bdd9a978149c19f51f2
Publikováno v:
Genomics Data, Vol 5, Iss C, Pp 159-163 (2015)
The transcription factor p63 is a key regulator in epidermal keratinocyte proliferation and differentiation. However, the role of p63 in gene regulation during these processes is not well understood. To investigate this, we recently generated genome-
Externí odkaz:
https://doaj.org/article/93f46654cd4c48a193f3f3185f6c18d8
Autor:
Sara Ballouz, Jason Y. Liu, Martin Oti, Bruno Gaeta, Diane Fatkin, Melanie Bahlo, Merridee A. Wouters
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 44-57 (2014)
Abstract Current single‐locus‐based analyses and candidate disease gene prediction methodologies used in genome‐wide association studies (GWAS) do not capitalize on the wealth of the underlying genetic data, nor functional data available from m
Externí odkaz:
https://doaj.org/article/8c07cdbe574c44818d8c501b2e69ce70
Autor:
Merel A W Oortveld, Shivakumar Keerthikumar, Martin Oti, Bonnie Nijhof, Ana Clara Fernandes, Korinna Kochinke, Anna Castells-Nobau, Eva van Engelen, Thijs Ellenkamp, Lilian Eshuis, Anne Galy, Hans van Bokhoven, Bianca Habermann, Han G Brunner, Christiane Zweier, Patrik Verstreken, Martijn A Huynen, Annette Schenck
Publikováno v:
PLoS Genetics, Vol 9, Iss 10, p e1003911 (2013)
Intellectual Disability (ID) disorders, defined by an IQ below 70, are genetically and phenotypically highly heterogeneous. Identification of common molecular pathways underlying these disorders is crucial for understanding the molecular basis of cog
Externí odkaz:
https://doaj.org/article/ff42952b92fc4a049448b26baa6ad4b0
Autor:
Evelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, Martin Oti, Bas E Dutilh, M Eva Alonso, Elisa de la Calle-Mustienes, Leonie Smeenk, Tuula Rinne, Lilian Parsaulian, Emine Bolat, Rasa Jurgelenaite, Martijn A Huynen, Alexander Hoischen, Joris A Veltman, Han G Brunner, Tony Roscioli, Emily Oates, Meredith Wilson, Miguel Manzanares, José Luis Gómez-Skarmeta, Hendrik G Stunnenberg, Marion Lohrum, Hans van Bokhoven, Huiqing Zhou
Publikováno v:
PLoS Genetics, Vol 6, Iss 8, p e1001065 (2010)
Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacial clefting, and ectodermal abnormalities. Elucidation of the p63 gene network that includes target genes and regulatory elements may reveal new genes for
Externí odkaz:
https://doaj.org/article/244a4ff01e8f4721bc59c60b4e933d9a
Autor:
Ugo Ala, Rosario Michael Piro, Elena Grassi, Christian Damasco, Lorenzo Silengo, Martin Oti, Paolo Provero, Ferdinando Di Cunto
Publikováno v:
PLoS Computational Biology, Vol 4, Iss 3, p e1000043 (2008)
BACKGROUND: Even in the post-genomic era, the identification of candidate genes within loci associated with human genetic diseases is a very demanding task, because the critical region may typically contain hundreds of positional candidates. Since ge
Externí odkaz:
https://doaj.org/article/f469f559430e4b55b743936fbdf4d659
Autor:
Ya-Chien Chan, Eike Kienle, Martin Oti, Maria Mendez-Lago, Dominik F. Aschauer, Manuel Peter, Michaela Pagani, Cosmas Arnold, Andreas Vonderheit, Christian Schön, Sebastian Kreuz, Alexander Stark, Simon Rumpel
Publikováno v:
SSRN Electronic Journal.