Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects

Autor: Lucas Alvizi, Xiayi Ke, Luciano Abreu Brito, Rimante Seselgyte, Gudrun E. Moore, Philip Stanier, Maria Rita Passos-Bueno

Publikováno v: Scientific Reports, Vol 7, Iss 1, Pp 1-8 (2017)

Abstract Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a multifactorial model of inheritance. Although several at-risk alleles have been identified, they do not completely explain the high heritability. We pos

Externí odkaz: https://doaj.org/article/e5bb70625e764a11be2c07ab251f41fb

Analysis of CDKN1C in fetal growth restriction and pregnancy loss [version 1; peer review: 2 approved]

Autor: Jenifer P. Suntharalingham, Miho Ishida, Federica Buonocore, Ignacio del Valle, Nita Solanky, Charalambos Demetriou, Lesley Regan, Gudrun E. Moore, John C. Achermann

Publikováno v: F1000Research, Vol 8 (2019)

Background: Cyclin-dependent kinase inhibitor 1C (CDKN1C) is a key negative regulator of cell growth encoded by a paternally imprinted/maternally expressed gene in humans. Loss-of-function variants in CDKN1C are associated with an overgrowth conditio

Externí odkaz: https://doaj.org/article/743bdf2ea6ee423d8db9bf96dd9fd3e8

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype

Autor: Daniël A. Lionarons, Davide Zecchin, Jeffrey R. MacDonald, Wei-Li Di, Hui Chen, Miriam Molina, Stuart Horswell, Gemma Tell, Véronique Bataille, Dale Bryant, Julia Newton-Bishop, Philip Stanier, Gudrun E. Moore, Kiran Parmar, Josep Malvehy, Catherine A. Harwood, Satyamaanasa Polubothu, Cristina Carrera, Jérémie Nsengimana, Veronica A. Kinsler, Julian Downward, Nathan Wlodarchak, Alan Pittman, Susana Puig, Yongna Xing, Neil J. Sebire, Anna C. Thomas, Mark Harland, L. Al-Olabi, Mehdi Zarrei, Michael Howell, Sarah Brand, Paulina Stadnik, Stephen W. Scherer, Lilian Hunt, Eugene Healy, Dale Moulding, Paula Aguilera, J.A. Puig-Butillé, Deborah Morrogh, Vanessa Martins da Silva, Sam Loughlin, Regula Waelchli, Sara Martin Barberan, Greg Elgar, Lionel Larue

Publikováno v: Genetics in medicine, 23(9), 1636-1647. Lippincott Williams and Wilkins
Genetics in Medicine

Purpose\ud Much of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach.\ud \ud Methods\ud Whole-genome copy-number findings in patients with melanoma predisposition syndrome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cf020b972091ef0da9c25d686d2a0a5
https://pure.amc.nl/en/publications/inherited-duplications-of-ppp2r3b-predispose-to-nevi-and-melanoma-via-a-c21orf91driven-proliferative-phenotype(c7c1481a-d0e0-4090-8d51-8c03bd58e817).html

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

Autor: Miho Ishida, Philip Stanier, Daniyal J. Jafree, Emma Peskett, Claire Walsh, Jason Rihel, Cristina Alemán-Charlet, Kaitlyn M. Eckert, Sanchari Datta, Rimante Seselgyte, Thomas A. Hawkins, Marian Seda, Jeffrey G. McDonald, Hanaa Hariri, Lydia Teboul, Charalambos Demetriou, Gideon Pomeranz, Gudrun E. Moore, Letizia Vestito, Dale Bryant, W. Mike Henne, Maria Bitner-Glindzicz, Myriam Hemberger, Dagan Jenkins, Constance Maurer, Marcus Ghosh, James Cleak

Publikováno v: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)

Mutations in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) in both humans and dogs. SCAR20 is understood to involve subcellular disruption to autophagy and lipid metabolism. Previously reported studies on the phenotypic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5088837813b63ac8b07f9923f25c772
http://hdl.handle.net/10044/1/90147

Genetic Analyses in Small for Gestational Age Newborns

Autor: Joris A. M. van der Post, Charalambos Demetriou, Adi N Mul, Chela James, Faisal I. Rezwan, Emma Peskett, Susanne E Stalman, Frans B. Plötz, Nicole A Nibbering, Miho Ishida, Lia Knegt, Jan M. Wit, Carrie Ris-Stalpers, Lucas Alvizi, Cristina Alemán-Charlet, Marcel M.A.M. Mannens, Peter Henneman, Gudrun E. Moore, W. Baird, Philip Stanier, Nita Solanky, Sayeda Abu-Amero, Marielle Alders, Lydia J. Leon, Gerdine A Kamp, Raoul C.M. Hennekam

Publikováno v: Journal of Clinical Endocrinology and Metabolism, 103(3), 917-925
Journal of Clinical Endocrinology and Metabolism
Journal of clinical endocrinology and metabolism, 103(3), 917-925. The Endocrine Society

Context Small for gestational age (SGA) can be the result of fetal growth restriction, which is associated with perinatal morbidity and mortality. Mechanisms that control prenatal growth are poorly understood. Objective The aim of the current study w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::377172b894d2b2404edb3d80d245eee2
https://doi.org/10.1210/jc.2017-01843