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Akademický článek

Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

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

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The modulation of sustainability knowledge and impulsivity traits on the consumption of foods of animal and plant origin in Italy and Turkey

Autor: Riccardo, Migliavada, Carol, Coricelli, Esra Emine, Bolat, Ceyhun, Uçuk, Luisa, Torri

Publikováno v: Scientific Reports. 12

Given the environmental challenge we face globally, a transition to sustainable diets seems essential. However, the cognitive aspects underlying sustainable food consumption have received little attention to date. The aims of this cross-cultural stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c731abdd719abb715396d9dc2c3d5c1a
https://doi.org/10.1038/s41598-022-24325-z

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The role of individual characteristics in sustainable food choices: A cross-cultural study between Italy and Turkey

Autor: Riccardo Migliavada, Carol Coricelli, Esra Emine Bolat, Ceyhun Uçuk, Luisa Torri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5bb7bf60811e5d4243080d35885ed53
https://doi.org/10.31234/osf.io/sqfmg

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2018 Fen Bilimleri Dersi Öğretim Programına Yönelik Öğretmen Görüşleri

Autor: Emine Bolat Hülya Dede, Merve Çakır

Publikováno v: Mediterranean Journal of Educational Research. 14:336-353

Bu calismanin amaci 2018 yilinda yenilenen fen bilimleri dersi ogretim programina yonelik ogretmen goruslerini belirlemektir. Arastirma yontemi olarak olgubilim (fenomenoloji) deseni kullanilmistir. Arastirmanin orneklemini Kilis, Adana, Sanliurfa, O

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::26990471bc7fd266778230b3eb6593b4
https://doi.org/10.29329/mjer.2020.234.16

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A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes

Autor: Elisabeth Rosser, Suzanne E. Clements, Rowdy Meijer, Evert N. Lamme, Pascal H.G. Duijf, Han G. Brunner, John A. McGrath, Emine Bolat, Huiqing Zhou, Hans van Bokhoven, Tiong Yang Tan, Joost Schalkwijk, Hans Scheffer, Tuula Rinne

Publikováno v: Human Molecular Genetics, 17, 1968-1977
Human Molecular Genetics, 17, 13, pp. 1968-1977

Contains fulltext : 69170.pdf (Publisher’s version ) (Open Access) Missense mutations in the 3' end of the p63 gene are associated with either RHS (Rapp-Hodgkin syndrome) or AEC (Ankyloblepharon Ectodermal defects Cleft lip/palate) syndrome. These

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a58065dfef9679cd34e60d189d3c489
https://doi.org/10.1093/hmg/ddn094

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

Autor: Dorus A. Mans, Liesbeth Spruijt, Emine Bolat, Nicole de Leeuw, Janneke H M Schuurs-Hoeijmakers, Machteld M. Oud, Sylvia E. C. van Beersum, Han G. Brunner, Elisabeth A.M. Cornelissen, Valérie Cormier-Daire, Heleen H. Arts, Ronald Roepman, Ernie M.H.F. Bongers, Nine V A M Knoers

Publikováno v: Journal of Medical Genetics, 48, 6, pp. 390-5
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.390. 〈10.1136/jmg.2011.088864〉
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (6), pp.390. ⟨10.1136/jmg.2011.088864⟩
Journal of Medical Genetics; Vol 48
JOURNAL OF MEDICAL GENETICS, 48(6), 390-395. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 48, 390-5

Contains fulltext : 95685.pdf (Publisher’s version ) (Closed access) BACKGROUND: Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart defects, l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13edb298f3bdf3f36d77bb649ea87911
https://pubmed.ncbi.nlm.nih.gov/21378380

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The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase

Autor: C. Johannes Gloeckner, Jeroen van Reeuwijk, Emine Bolat, Karsten Boldt, Susanne Roosing, Stef J.F. Letteboer, Ronald Roepman, Karlien L.M. Coene, Theo A. Peters, Dorus A. Mans, Marius Ueffing, Frans P.M. Cremers

Publikováno v: Hum. Mol. Genet. 20, 3592-3605 (2011)
Human Molecular Genetics; Vol 20
Human Molecular Genetics, 20, 3592-605
Human Molecular Genetics, 20, 18, pp. 3592-605

Contains fulltext : 97420.pdf (Publisher’s version ) (Closed access) Recent studies have established ciliary dysfunction as the underlying cause of a broad range of multi-organ phenotypes, known as 'ciliopathies'. Ciliopathy-associated proteins hav

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96495ec5414979334818ddff17df03bb
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=6167

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Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus

Publikováno v: Plos Genetics, 6, e1001065-e1001065
PLoS Genetics, Vol 6, Iss 8, p e1001065 (2010)
Plos Genetics, 6, 8, pp. e1001065-e1001065
Digital.CSIC. Repositorio Institucional del CSIC
instname
Plos Genetics, 6, 8
Plos Genetics, 6
PLoS Genetics

15 páginas, 5 figuras, 3 tablas.-- This is an open-access article distributed under the terms of the Creative Commons Attribution License.-- et al.
Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::730e4125bb8d9fe641ebf5541646d1b3
http://hdl.handle.net/2066/88501

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Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)

Autor: Tuula Rinne, Hans Scheffer, Hans van Bokhoven, Emine Bolat, Rowdy Meijer

Publikováno v: American Journal of Medical Genetics. Part A, 149A, 1948-51
American Journal of Medical Genetics. Part A, 149A, 9, pp. 1948-51

Contains fulltext : 81515.pdf (Publisher’s version ) (Closed access) Heterozygous mutations in the p63 gene underlie a group of at least seven allelic syndromes, including ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC) and Rapp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::293fb3df58dc7c748da476e7e6e504ba
https://pubmed.ncbi.nlm.nih.gov/19676060

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