Genetic variants for head size share genes and pathways with cancer

Autor: Shihua Li, Melissa J. Green, Nagata M, Miyamoto S, Le Grand Q, Pourcain Bs, Grabe Hj, Catherine Helmer, William R. Reay, Nele Friedrich, Mazoyer B, Seshadri S, Per Hoffmann, Simon Haworth, Veronica Witte A, Yang Q, Max Lam, Teunissen Mw, Fang-Chi Hsu, Debette S, Murray J. Cairns, Amod Ar, Setoh K, Windham Bg, Shareefa Dalvie, Georg Homuth, Charlie S. DeCarli, Gennady V. Roshchupkin, Céline S. Reinbold, Mühleisen Tw, Nakahara S, Van der Auwera S, Xueqiu Jian, Cecil Ca, Jean-François Dartigues, Alexa S. Beiser, Stein Jl, Houlden H, Christiane Jockwitz, Moebus S, Claudia L. Satizabal, Tavia E. Evans, Matsuda F, Cora E. Lewis, Wittfeld K, Calhoun Vd, van der Lugt A, Teumer A, Pausova Z, W. T. Longstreth, Aniket Mishra, Tomáš Paus, Vernooij Mw, Medland Se, Palmer Nd, Ahmad R. Hariri, Adrian Preda, Clifford R. Jack, van Erp Tg, Amaia Carrion-Castillo, Werring Dj, Gwénaëlle Catheline, Asta Håberg, Robin Bülow, Sven Cichon, Yann Quidé, Muetzel R, Tabara Y, Sidney S, Cheung C, Brunner Hg, Annchen R. Knodt, Mosley Th, van Dam-Nolen Dh, Hostettler Ic, Jean Shin, Shapland Cy, Reut Avinun, Crivello F, Mäkitie O, Fornage M, Yoshida K, Villringer A, Lim K, Schreiner Pj, Bowden Dw, Thompson Pm, Daniel Bos, Uhlmann A, Enlund-Cerullo M, Schmidt R, Hieab H.H. Adams, Neda Jahanshad, Frauke Beyer, Gloria H.Y. Li, Fabio Macciardi, Lamballais S, Kämpe A, Judith M. Ford, Poot Ra, J. C. Bis, Yoichiro Kamatani, Ami Tsuchida, Markus Scholz, Ikram Ma, Andersson S, Lenore J. Launer, Stein Dj, Koudstaal Pj, Barry I. Freedman, Barbara Franke, Ikram Mk, Sim K, Marie-Gabrielle Duperron, Bryan Rn, Svenja Caspers, Pawlak Ma, Tonya White, Maria J. Knol

Publikováno v: bioRxiv

The size of the human head is determined by growth in the first years of life, while the rest of the body typically grows until early adulthood1. Such complex developmental processes are regulated by various genes and growth pathways2. Rare genetic s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7257a6f2bd075e933a9651bd717040d3
https://doi.org/10.1101/2020.07.15.191114

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

Autor: Twigg, SR, Babbs, C, van den Elzen, ME, Goriely, A, Taylor, S, McGowan, SJ, Giannoulatou, E, Lonie, L, Ragoussis, J, Sadighi Akha, E, Knight, SJ, Zechi-Ceide, RM, Hoogeboom, JA, Pober, BR, Toriello, HV, Wall, SA, Rita Passos-Bueno, M, Brunner, HG, Mathijssen, IM, Wilkie, AO

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, 22, 1654-62
Human Molecular Genetics, 22, 8, pp. 1654-62
Human Molecular Genetics, 22(8), 1654-1662. Oxford University Press

Contains fulltext : 118112.pdf (Publisher’s version ) (Open Access) Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females character

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6454c4691ce436a971e3508f0b88a145
http://europepmc.org/articles/PMC3605834

The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data

Autor: Thompson, PM, Stein, JL, Medland, SE, Hibar, DP, Vasquez, AA, Renteria, ME, Toro, R, Jahanshad, N, Schumann, G, Franke, B, Wright, MJ, Martin, NG, Agartz, I, Alda, M, Alhusaini, S, Almasy, L, Almeida, J, Alpert, K, Andreasen, NC, Andreassen, OA, Apostolova, LG, Appel, K, Armstrong, NJ, Aribisala, B, Bastin, ME, Bauer, M, Bearden, CE, Bergmann, Ø, Binder, EB, Blangero, J, Bockholt, HJ, Bøen, E, Bois, C, Boomsma, DI, Booth, T, Bowman, IJ, Bralten, J, Brouwer, RM, Brunner, HG, Brohawn, DG, Buckner, RL, Buitelaar, J, Bulayeva, K, Bustillo, JR, Calhoun, VD, Cannon, DM, Cantor, RM, Carless, MA, Caseras, X, Cavalleri, GL, Chakravarty, MM, Chang, KD, Ching, CRK, Christoforou, A, Cichon, S, Clark, VP, Conrod, P, Coppola, G, Crespo-Facorro, B, Curran, JE, Czisch, M, Deary, IJ, de Geus, EJC, den Braber, A, Delvecchio, G, Depondt, C, de Haan, L, de Zubicaray, GI, Dima, D, Dimitrova, R, Djurovic, S

Publikováno v: Thompson, PM; Stein, JL; Medland, SE; Hibar, DP; Vasquez, AA; Renteria, ME; et al.(2014). The ENIGMA Consortium: Large-scale collaborative analyses of neuroimaging and genetic data. Brain Imaging and Behavior, 8(2), 153-182. doi: 10.1007/s11682-013-9269-5. UCLA: Retrieved from: http://www.escholarship.org/uc/item/6hv0g5jf

The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Grou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::6f94a03c004fed87ca7f91e2249f4643
http://www.escholarship.org/uc/item/6hv0g5jf

(Waardenburg Anophthalmia) Syndrome in Humans and Mice

Autor: Rainger, J, van Beusekom, E, Ramsay, JK, McKie, L, Al-Gazali, L, Pallotta, R, Saponari, A, Branney, P, Fisher, M, Morrison, H, Bicknell, L, Gautier, P, Perry, P, Sokhi, K, Sexton, D, Bardakjian, TM, Schneider, AS, Elcioglu, N, Ozkinay, F, Koenig, R, Megarbane, A, Semerci, CN, Khan, A, Zafar, S, Hennekam, R, Sousa, SB, Ramos, L, Garavelli, L, Furga, AS, Wischmeijer, A, Jackson, IJ, Gillessen-Kaesbach, G, Brunner, HG, Wieczorek, D, van Bokhoven, H, FitzPatrick, DR

Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent target

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::742b64d8766c47c264deb0d9687861eb
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/13345

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

Autor: Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzalez-Duarte R, Kaplan J

Publikováno v: European journal of human genetics 10 (2002): 197–203.
info:cnr-pdr/source/autori:Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzalez-Duarte R, Kaplan J, et al./titolo:The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe./doi:/rivista:European journal of human genetics/anno:2002/pagina_da:197/pagina_a:203/intervallo_pagine:197–203/volume:10

Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene ABCA4 (ABCR) are a common cause of retinal dystrophy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::7c0f6e0b9f9a81d1eca5fd5bd857f8f2
http://www.cnr.it/prodotto/i/26471