Zobrazeno 1 - 10
of 240
pro vyhledávání: '"magel2"'
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
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
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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
Autor:
Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Abstract Background Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. Yet, precise pathomechanism remains to be solved. We sequen
Externí odkaz:
https://doaj.org/article/9452f2d30f0a454aa154805cdae0f6ea
Autor:
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Barbara Gorka, Ioanna Kousiappa, George A. Tanteles, Michalis Iasonides, Nicolas C. Nicolaides, Yiolanda P. Christou, Kyriaki Michailidou, Stella Nicolaou, Savvas S. Papacostas, Athanasios Christoforidis, Andreas Kyriakou, Dimitrios Vlachakis, Nicos Skordis, Leonidas A. Phylactou
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
BackgroundCentral precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height. Currently, few genetic determinants of children with CPP h
Externí odkaz:
https://doaj.org/article/6419e03e08384921a33f330e4e460fac