Zobrazeno 1 - 10
of 249
pro vyhledávání: '"Magel2"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-13 (2024)
Abstract Background MAGEL2 is an autism susceptibility gene whose deficiency has been associated with autism-related behaviors in animal models and in syndromic human autism spectrum disorders (ASDs) such as Schaaf-Yang syndrome, but has not been stu
Externí odkaz:
https://doaj.org/article/113e4fb3a1fa4a4da54b2aaded1627e6
Autor:
E. L. Dadali, T. V. Markova, F. M. Bostanova, A. S. Kuchina, L. A. Bessonova, E. A. Melnik, V. V. Zabnenkova, O. P. Ryzhkova, O. E. Agranovich
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 1, Pp 42-50 (2024)
A description of the clinical and genetic characteristics of four Russian patients with Schaaf–Yang syndrome, caused by previously described and newly identified nucleotide variants in MAGEL2 gene, is presented. It was shown that the most severe cl
Externí odkaz:
https://doaj.org/article/f7f88af6c86b4e8b84073e720fafedf8
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Intracellular protein trafficking and sorting are extremely arduous in endocrine and neuroendocrine cells, which synthesize and secrete on-demand substantial quantities of proteins. To ensure that neuroendocrine secretion operates correctly, each ste
Externí odkaz:
https://doaj.org/article/5049cf6173e747568ee9942736bf0fe0
Autor:
Ana Maria Rodriguez, Katherine Schain, Parul Jayakar, Meredith S. Wright, Shimul Chowdhury, Daria Salyakina
Publikováno v:
Clinical Case Reports, Vol 11, Iss 8, Pp n/a-n/a (2023)
Key Clinical Message We report two, genotypically identical but phenotypically distinct cases of Schaaf‐Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnosis of chi
Externí odkaz:
https://doaj.org/article/05e06569fdec4dc7b581d9e063ad1424
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Seung Hoon Lee, Seung Han Shin, Jung Min Ko, Boram Kim, Hyeon Sae Oh, Man Jin Kim, Seul Gi Park, Ee-Kyung Kim, Han-Suk Kim
Publikováno v:
Neonatal Medicine, Vol 29, Iss 3, Pp 112-116 (2022)
Schaaf-Yang syndrome (SYS) is a rare genomic imprinting disorder caused by truncating mutations in the paternally derived MAGE family member L2 (MAGEL2) allele. It is also responsible for Prader-Willi syndrome, characterized by neonatal hypotonia, de
Externí odkaz:
https://doaj.org/article/de4e4bed93c04833b55a4930bdab3326
Autor:
Derek L. Reznik, Mingxiao V. Yang, Pedro Albelda de la Haza, Antrix Jain, Melanie Spanjaard, Susanne Theiss, Christian P. Schaaf, Anna Malovannaya, Theresa V. Strong, Surabi Veeraragavan, Rodney C. Samaco
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 2 (2023)
Externí odkaz:
https://doaj.org/article/79466f972a5047ff8794b4cf8832cc73
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
Abstract Background Schaaf‐Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein‐coding genes within the Prader‐Willi syndrome (PWS) cri
Externí odkaz:
https://doaj.org/article/51955a8ec7494325ba1fbed920e0f7fa
Autor:
Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-Wödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf, Alma Kuechler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in the imprinted regio
Externí odkaz:
https://doaj.org/article/712697eba97847ddae14ef131df71986