Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Autor: J. M., Fu, Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., Stevens, C. R., Cusick, C., Babadi, M., Banks, E., Collins, B., Dodge, S., Gabriel, S. B., Gauthier, L., Lee, S. K., Liang, L., Ljungdahl, A., Mahjani, B., Sloofman, L., Smirnov, A. N., Barbosa, M., Betancur, C., Brusco, A., Chung, B. H. Y., Cook, E. H., Cuccaro, M. L., Domenici, E., Ferrero, G. B., Gargus, J. J., Herman, G. E., Hertz-Picciotto, I., Maciel, P., Manoach, D. S., Passos-Bueno, M. R., Persico, A., Renieri, A., Sutcliffe, J. S., Tassone, F., Trabetti, E., Campos, G., Cardaropoli, S., Carli, D., Chan, M. C. Y., Fallerini, C., Giorgio, E., Girardi, A. C., Hansen-Kiss, E., Lee, S. L., Lintas, C., Ludena, Y., Nguyen, R., Pavinato, L., Pericak-Vance, M., Pessah, I. N., Schmidt, R. J., Smith, M., Costa, C. I. S., Trajkova, S., Wang, J. Y. T., M. H. C., Yu, Aleksic, B., Artomov, M., Benetti, E., Biscaldi-Schafer, M., Borglum, A. D., Carracedo, A., Chiocchetti, A. G., Coon, H., Doan, R. N., Fernandez-Prieto, M., Freitag, C. M., Gerges, S., Guter, S., Hougaard, D. M., Hultman, C. M., Jacob, S., Kaartinen, M., Kolevzon, A., Kushima, I., Lehtimaki, T., Rizzo, C. L., Maltman, N., Manara, M., Meiri, G., Menashe, I., Miller, J., Minshew, N., Mosconi, M., Ozaki, N., Palotie, A., Parellada, M., Puura, K., Reichenberg, A., Sandin, S., Scherer, S. W., Schlitt, S., Schmitt, L., Schneider-Momm, K., Siper, P. M., Suren, P., Sweeney, J. A., Teufel, K., del Pilar Trelles, M., Weiss, L. A., Yuen, R., Cutler, D. J., De Rubeis, S., Buxbaum, J. D., Daly, M. J., Devlin, B., Roeder, K., Sanders, S. J., Talkowski, M. E.

Publikováno v: Nature genetics, vol 54, iss 9
Nature Genetics
Nature Genetics, 2022, 54 (9), pp.1320-1331. ⟨10.1038/s41588-022-01104-0⟩
Nat Genet
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

International audience; Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e272fcce2991b63297b66fd9e9849ad8
http://hdl.handle.net/11562/1073647

Structural Neuroimaging and Molecular Signatures of Drug‐Naive Depression With Melancholic Features.

Autor: Yuan, Lijin¹ (AUTHOR), Chu, Zhaosong¹ (AUTHOR), Chen, Xianyu¹ (AUTHOR), He, Mengxin¹ (AUTHOR), Lu, Yi² (AUTHOR), Xu, Xiufeng^1,3 (AUTHOR), Shen, Zonglin^1,3 (AUTHOR) shenzl1987@163.com, Stoyanov, Drozdstoy (AUTHOR) drozdstoy.stoyanov@mu-plovdiv.bg

Publikováno v: Depression & Anxiety (1091-4269). 10/13/2024, Vol. 2024, p1-10. 10p.

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.

Autor: Sriretnakumar V; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada., Harripaul R; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Institute of Medical Science, University of Toronto, Toronto, Canada., Kennedy JL; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Department of Psychiatry, University of Toronto, Toronto, Canada., So J; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada.; Department of Psychiatry, University of Toronto, Toronto, Canada.; Department of Medicine, University of Toronto, Toronto, Canada.; Division of Medical Genetics, Departments of Medicine and Pediatrics, University of California, San Francisco, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63609. Date of Electronic Publication: 2024 Mar 26.

Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21

Autor: Antonarakis, Stylianos, Blouin, Jean-Louis, Lasseter, V. K., Gehrig, Corinne, Radhakrishna, U., Nestadt, G., Housman, D. E., Kazazian, H. H., Kalman, K., Gutman, G., Fantino, E., Chandy, K. G., Gargus, J. J., Pulver, A. E.

Publikováno v: American Journal of Medical Genetics, Vol. 88, No 4 (1999) pp. 348-351

To determine the importance of a candidate gene KCNN3 (formerly named hSKCa3) in the susceptibility to schizophrenia, we have studied the genotypes of a (CAG)n polymorphism within this gene in the DNAs of the members of 54 multiplex families with thi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b13dcc86b8014ef0aef355aeeb49243b
https://pubmed.ncbi.nlm.nih.gov/10402501

Gene transfer of a putative mammalian K⁺ channel gene from genomic and cosmid DNA.

Autor: MITAS, M., COOGAN, C., GARGUS, J. J.

Publikováno v: American Journal of Physiology: Cell Physiology; Jul1988, Vol. 255 Issue 1, pC12-C18, 7p