Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene

Autor: Michael D. Fountain, Christian P. Schaaf

Publikováno v: Diseases, Vol 4, Iss 1, p 2 (2016)

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by neonatal hypotonia, developmental delay/intellectual disability, and characteristic feeding behaviors with failure to thrive during infancy; followed by hyperphagia and exc

Externí odkaz: https://doaj.org/article/949222d53d494506a974de7446cd23d9

Supplementary Table 4 from Molecular Profiling Uncovers a p53-Associated Role for MicroRNA-31 in Inhibiting the Proliferation of Serous Ovarian Carcinomas and Other Cancers

Autor: Matthew L. Anderson, Martin M. Matzuk, Preethi H. Gunaratne, Azam Zariff, Emuejevoke Olokpa, Mahjabeen Khan, Huifeng Zhu, Ankur K. Nagaraja, Zhifeng Yu, Michael D. Fountain, Chad J. Creighton

Supplementary Table 4 from Molecular Profiling Uncovers a p53-Associated Role for MicroRNA-31 in Inhibiting the Proliferation of Serous Ovarian Carcinomas and Other Cancers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31f3cee528b75b92728173982269f868
https://doi.org/10.1158/0008-5472.22387515

Supplementary Table 3 from Molecular Profiling Uncovers a p53-Associated Role for MicroRNA-31 in Inhibiting the Proliferation of Serous Ovarian Carcinomas and Other Cancers

Autor: Matthew L. Anderson, Martin M. Matzuk, Preethi H. Gunaratne, Azam Zariff, Emuejevoke Olokpa, Mahjabeen Khan, Huifeng Zhu, Ankur K. Nagaraja, Zhifeng Yu, Michael D. Fountain, Chad J. Creighton

Supplementary Table 3 from Molecular Profiling Uncovers a p53-Associated Role for MicroRNA-31 in Inhibiting the Proliferation of Serous Ovarian Carcinomas and Other Cancers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d0fafa27bc0f45a034cc126ca51558f
https://doi.org/10.1158/0008-5472.22387518

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Autor: Francisca Millan, Mieke M. van Haelst, Ankita Patel, Cédric Le Caignec, Jean P. Pfotenhauer, Wendy E. Smith, Denise Horn, Klaske D. Lichtenbelt, Tanner Hagelstrom, David A. Dyment, Ryan J. Taft, Jill V. Hunter, Jolanta Wierzba, Margarita Saenz, Ian D. Krantz, Denise L. Perry, Luis F. Escobar, Bertrand Isidor, Ingrid Cristian, Richard E. Person, Aditi Chawla, Michael D. Fountain, Diane Masser-Frye, Sarah E. Raible, Koen L.I. van Gassen, Erin Torti, Weimin Bi, Philip J. Lupo, Jill A. Rosenfeld, Chumei Li, Claude Férec, Robert C. Pedersen, Megan E. Rech, Fan Xia, Sébastien Küry, Ilaria Parenti, Ingrid M. Wentzensen, Loren D M Pena, Jane Juusola, Manuel Holtgrewe, Frank J. Kaiser, John M. McCarthy, David S. Oleson, Arnold Munnich, Kévin Uguen, Thomas M. Morgan, Lara Segebrecht, Sung Hae L. Kang, Nadja Ehmke, Sunita Venkateswaran, Christian P. Schaaf, Marilyn C. Jones, Tim M. Strom, Rocio Moran, Stéphane Bézieau, Rebecca C. Spillmann

Publikováno v: Genetics in Medicine, 21(8), 1797. Lippincott Williams and Wilkins
Genet. Med. 21, 1797-1807 (2019)
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8
Fountain, M D, Oleson, D S, Rech, M E, Segebrecht, L, Hunter, J V, McCarthy, J M, Lupo, P J, Holtgrewe, M, Moran, R, Rosenfeld, J A, Isidor, B, le Caignec, C D, Saenz, M S, Pedersen, R C, Morgan, T M, Pfotenhauer, J P, Xia, F, Bi, W, Kang, S-H L, Patel, A, Krantz, I D, Raible, S E, Smith, W, Cristian, I, Torti, E, Juusola, J, Millan, F, Wentzensen, I M, Person, R E, Küry, S B, Bézieau, S, Uguen, K V, Férec, C, Munnich, A, van Haelst, M, Lichtenbelt, K D, van Gassen, K, Hagelstrom, T, Chawla, A, Perry, D L, Taft, R J, Jones, M, Masser-Frye, D, Dyment, D, Venkateswaran, S, Li, C, Escobar, L F, Horn, D, Spillmann, R C, Peña, L, Wierzba, J, Strom, T M, Parenti, I, Kaiser, F J, Ehmke, N & Schaaf, C P 2019, ' Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies ', Genetics in Medicine, vol. 21, no. 8, pp. 1797-1807 . https://doi.org/10.1038/s41436-019-0433-1
Genetics in Medicine
Genetics in Medicine, 21(8), 1797-1807. Lippincott Williams and Wilkins

Purpose: Haploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), sei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f11f31e0314c44e1f69c492869e6442b
https://doi.org/10.1038/s41436-019-0433-1

Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty

Autor: Jiani Yin, Christian P. Schaaf, Huifang Tao, Chun-An Chen, Michael D. Fountain

Publikováno v: Genes, Brain and Behavior. 16:592-600

MAGEL2 is one of five protein-coding, maternally imprinted, paternally expressed genes in the Prader-Willi syndrome (PWS)-critical domain on chromosome 15q11-q13. Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (SHFYNG) (OMIM #615

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1ddec52ca0c4c4fc0773e322658cd47b
https://doi.org/10.1111/gbb.12378