Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Edar Receptor/genetics"'
Autor:
Sonia, Schuepbach-Mallepell, Christine, Kowalczyk-Quintas, Angela, Dick, Mahya, Eslami, Michele, Vigolo, Denis J, Headon, Michael, Cheeseman, Holm, Schneider, Pascal, Schneider
Publikováno v:
Methods in molecular biology, vol. 2248, pp. 167-183
Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia, a congenital condition characterized by the absence or abnormal formation of sweat glands, teeth, and several skin appendages. Stimulation of the EDA recep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::27ed27b12e17063186650f845d02b0a0
https://serval.unil.ch/resource/serval:BIB_7E7970A5AB18.P002/REF.pdf
https://serval.unil.ch/resource/serval:BIB_7E7970A5AB18.P002/REF.pdf
Autor:
Joanna L. Mountain, Jenna C. Carlson, Steven J. Pitts, Chao Tian, Bethann S. Hromatka, Giovanni Poletti, Carrie A.M. Northover, Nadia Litterman, Eleanor Feingold, Timothy C. Cox, Samuel Canizales-Quinteros, Francisco Rothhammer, Andres Ruiz-Linares, Catherine H. Wilson, J. Fah Sathirapongsasuti, Jacqueline T. Hecht, Pierre Fontanillas, Suyash Shringarpure, Sijia Wang, Jasmien Roosenboom, Sarah L. Elson, Elizabeth J. Leslie, Katarzyna Bryc, Ekaterina Orlova, Anan Ding, Seth M. Weinberg, Vladimir Vacic, Lina M. Moreno, Mary L. Marazita, Paige E. Pfeffer, Robert K. Bell, Olga V. Sazonova, George L. Wehby, Elizabeth S. Noblin, Rolando González-José, Matthew H. McIntyre, David A. Hinds, Li Jin, Adam Auton, Myoung Keun Lee, Janie F. Shelton, Nicholas A. Furlotte, Christopher A. Wollenschlaeger, Lavinia Schuler-Faccini, John R. Shaffer, Karen E. Huber, Yajun Yang, Gabriel Bedoya, Maria Cátira Bortolini, Babak Alipanahi, Carla Gallo, Jinxi Li, Aaron Kleinman, Michelle Agee, Kaustabh Adhikari, Joyce Y. Tung
Publikováno v:
Repositorio UdeA
Universidad de Antioquia
instacron:Universidad de Antioquia
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (6), pp.913-924. ⟨10.1016/j.ajhg.2017.10.001⟩
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
American Journal of Human Genetics, 2017, 101 (6), pp.913-924. ⟨10.1016/j.ajhg.2017.10.001⟩
Universidad de Antioquia
instacron:Universidad de Antioquia
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (6), pp.913-924. ⟨10.1016/j.ajhg.2017.10.001⟩
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
American Journal of Human Genetics, 2017, 101 (6), pp.913-924. ⟨10.1016/j.ajhg.2017.10.001⟩
The genetic basis of earlobe attachment has been a matter of debate since the early 20th century, such that geneticists argue both for and against polygenic inheritance. Recent genetic studies have identified a few loci associated with the trait, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2301976ce5c96418c22a406dfbb1f89e
Autor:
Adhikari, Kaustubh, Fuentes-Guajardo, Macarena, Quinto-Sánchez, Mirsha, Mendoza-Revilla, Javier, Camilo Chacón-Duque, Juan, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Lozano, Rodrigo Barquera, Pérez, Gastón Macín, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria- Cátira, Canizales-Quinteros, Samuel, Cheeseman, Michael, Rosique, Javier, Bedoya, Gabriel, Rothhammer, Francisco, Headon, Denis, González-José, Rolando, Balding, David, Ruiz-Linares, Andrés
Publikováno v:
Adhikari, K, Fuentes-Guajardo, M, Quinto-Sánchez, M, Mendoza-Revilla, J, Camilo Chacón-Duque, J, Acuña-Alonzo, V, Jaramillo, C, Arias, W, Lozano, R B, Pérez, G M, Gómez-Valdés, J, Villamil-Ramírez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, C C, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, F M, Bortolini, M-C, Canizales-Quinteros, S, Cheeseman, M, Rosique, J, Bedoya, G, Rothhammer, F, Headon, D, González-José, R, Balding, D & Ruiz-Linares, A 2016, ' A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation ', Nature Communications, vol. 7, 11616 . https://doi.org/10.1038/ncomms11616
Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)
Nature Communications
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Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)
Nature Communications
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values
Humans show great diversity in facial appearance and this variation
Humans show great diversity in facial appearance and this variation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::421bf37d03f77a508d671da9446adca7
http://www.nature.com/articles/ncomms11616
http://www.nature.com/articles/ncomms11616
Autor:
Adhikari, Kaustubh, Reales, Guillermo, Smith, Andrew J. P., Konka, Esra, Palmen, Jutta, Quinto-Sanchez, Mirsha, Acuña-Alonzo, Victor, Jaramillo, Claudia, Arias, William, Fuentes, Macarena, Pizarro, María, Barquera Lozano, Rodrigo, Macín Pérez, Gastón, Gómez-Valdés, Jorge, Villamil-Ramírez, Hugo, Hunemeier, Tábita, Ramallo, Virginia, Silva de Cerqueira, Caio C., Hurtado, Malena, Villegas, Valeria, Granja, Vanessa, Gallo, Carla, Poletti, Giovanni, Schuler-Faccini, Lavinia, Salzano, Francisco M., Bortolini, Maria- Cátira, Canizales-Quinteros, Samuel, Rothhammer, Francisco, Bedoya, Gabriel, Calderón, Rosario, Rosique, Javier, Cheeseman, Michael, Bhutta, Mahmood F., Humphries, Steve E., Gonzalez-José, Rolando, Headon, Denis, Balding, David, Ruiz-Linares, Andrés
Publikováno v:
Nature Communications
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Adhikari, K, Reales, G, Smith, A J P, Konka, E, Palmen, J, Quinto-Sanchez, M, Acuña-Alonzo, V, Jaramillo, C, Arias, W, Fuentes, M, Pizarro, M, Barquera Lozano, R, Macín Pérez, G, Gómez-Valdés, J, Villamil-Ramírez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, C C, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, F M, Bortolini, M-C, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Calderón, R, Rosique, J, Cheeseman, M, Bhutta, M F, Humphries, S E, Gonzalez-José, R, Headon, D, Balding, D & Ruiz-Linares, A 2015, ' A genome-wide association study identifies multiple loci for variation in human ear morphology ', Nature Communications, vol. 6, 7500 . https://doi.org/10.1038/ncomms8500
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Adhikari, K, Reales, G, Smith, A J P, Konka, E, Palmen, J, Quinto-Sanchez, M, Acuña-Alonzo, V, Jaramillo, C, Arias, W, Fuentes, M, Pizarro, M, Barquera Lozano, R, Macín Pérez, G, Gómez-Valdés, J, Villamil-Ramírez, H, Hunemeier, T, Ramallo, V, Silva de Cerqueira, C C, Hurtado, M, Villegas, V, Granja, V, Gallo, C, Poletti, G, Schuler-Faccini, L, Salzano, F M, Bortolini, M-C, Canizales-Quinteros, S, Rothhammer, F, Bedoya, G, Calderón, R, Rosique, J, Cheeseman, M, Bhutta, M F, Humphries, S E, Gonzalez-José, R, Headon, D, Balding, D & Ruiz-Linares, A 2015, ' A genome-wide association study identifies multiple loci for variation in human ear morphology ', Nature Communications, vol. 6, 7500 . https://doi.org/10.1038/ncomms8500
Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fb71b3af03c6db50ee21d9f71600559d
http://europepmc.org/articles/PMC4491814
http://europepmc.org/articles/PMC4491814
Publikováno v:
Henningsen, E, Svendsen, M T, Lildballe, D L & Jensen, P K A 2014, ' A Novel Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohidrotic Ectodermal Dysplasia ', American Journal of Medical Genetics. Part A, vol. 164, no. 8, pp. 2059-2061 . https://doi.org/10.1002/ajmg.a.36582
Henningsen, E, Svendsen, M T, Lildballe, D L & Jensen, P K A 2014, ' A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia ', American Journal of Medical Genetics, Part A, vol. 164, no. 8, pp. 2059-2061 . https://doi.org/10.1002/ajmg.a.36582
Henningsen, E, Svendsen, M T, Lildballe, D L & Jensen, P K A 2014, ' A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia ', American Journal of Medical Genetics, Part A, vol. 164, no. 8, pp. 2059-2061 . https://doi.org/10.1002/ajmg.a.36582
We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b7fa4e153de028e398ce2cec3b91d18
https://portal.findresearcher.sdu.dk/da/publications/d479ee92-7fb1-4fc8-8d7f-b88370e811ea
https://portal.findresearcher.sdu.dk/da/publications/d479ee92-7fb1-4fc8-8d7f-b88370e811ea