Zobrazeno 1 - 10
of 93
pro vyhledávání: '"SGCG"'
Autor:
Young-Eun Seo, Stephen H. Baine, Amber N. Kempton, Oliver C. Rogers, Sarah Lewis, Kaitlin Adegboye, Alex Haile, Danielle A. Griffin, Ellyn L. Peterson, Eric R. Pozsgai, Rachael A. Potter, Louise R. Rodino-Klapac
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 28, Iss , Pp 284-299 (2023)
Limb-girdle muscular dystrophy (LGMD) type 2C/R5 results from mutations in the γ-sarcoglycan (SGCG) gene and is characterized by muscle weakness and progressive wasting. Loss of functional γ-sarcoglycan protein in the dystrophin-associated protein
Externí odkaz:
https://doaj.org/article/454f7bfe844c427ebf5263c914d5ec4d
Autor:
Nam‐Chung Tran, Tuan Anh Nguyen, Thanh Dat Ta, Thinh Huy Tran, Phuoc‐Dung Nguyen, Chi Dung Vu, Van‐Hung Nguyen, The‐Hung Bui, Thanh Van Ta, Van Khanh Tran
Publikováno v:
Clinical Case Reports, Vol 11, Iss 3, Pp n/a-n/a (2023)
Abstract Limb‐girdle muscular dystrophy‐type 2C (LGMD2C) is caused by mutations in the SGCG gene. Here, we report a case of a 26‐year‐old male who had inactive walking due to proximal muscle weakness. Targeted next‐generation sequencing fou
Externí odkaz:
https://doaj.org/article/a0cf2653b0764123ace118f3fbae2f31
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Valentina Pegoraro, Corrado Angelini
Publikováno v:
Expert Opinion on Orphan Drugs. 8:515-523
Introduction: Sarcoglycanopathies (SG) are caused by a mutation in SGCA, SGCB, SGCG, or SGCD genes and present a wide spectrum of muscle involvement and wasting. The clinical phenotypes due to a mu...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68f63223cc846d2c1f845183add4227
https://doi.org/10.1080/21678707.2020.1865916
https://doi.org/10.1080/21678707.2020.1865916
Autor:
Rebecca Buchert, Zaid Ghanem, Mohammed Falana, Peter Bauer, Suhail Ayesh, Hiyam Marzouqa, Yvonne Schelling, Rajech Sharkia, Holger Hengel, Osama Balousha, Werner Deigendesch, Ghassan Balousha, Abdussalam Azem, Ludger Schöls, Jimmy Zaidan, Marc Sturm, Muhammad Mahajnah, Reinhard Keimer, Tobias B. Haack
Publikováno v:
European Journal of Human Genetics
European journal of human genetics 28(8), 1034-1043 (2020). doi:10.1038/s41431-020-0609-9
European journal of human genetics 28(8), 1034-1043 (2020). doi:10.1038/s41431-020-0609-9
A high rate of consanguinity leads to a high prevalence of autosomal recessive disorders in inbred populations. One example of inbred populations is the Arab communities in Israel and the Palestinian Authority. In the Palestinian Authority in particu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::049475c95708e15ef7a4bbb6f3325c93
https://doi.org/10.1038/s41431-020-0609-9
https://doi.org/10.1038/s41431-020-0609-9
Autor:
Marcondes C. França, Abayuba Perna, Nathan Thibault, Madhuri Hegde, Jorge A. Bevilacqua, Roberto Araujo, Kristl G. Claeys, Alberto Dubrovsky, Nadia Daba, Maria del Rosario Guecaimburu Ehuletche, Magali Periquet, Volker Straub, Steven Vargas, Susan Sparks, Roberta Faria
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving the shoulder and pelvic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64d4c75da510790e75daea668d33e21e
https://doaj.org/article/7238d780e8914ec39d31737fd18f471e
https://doaj.org/article/7238d780e8914ec39d31737fd18f471e
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Dan Gan, Zhenyi Wang, Yiming Qian, Wei Jin, Hongcheng Lin, Hua Liu, Haojie Yang, Yixin Yan, Changpeng Han, Can Cui
Publikováno v:
Aging (Albany NY)
Older patients who are diagnosed with colon cancer face unique challenges, specifically regarding to cancer treatment. The aim of this study was to identify prognostic signatures to predicting prognosis in colon cancer patients through a detailed tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83519e01e66c0d7b16d3c6f6c51767fd
https://doi.org/10.18632/aging.102365
https://doi.org/10.18632/aging.102365
Autor:
Ozge Kaya Ozer, Ozgur Kirbiyik, Uluç Yiş, Pinar Gencpinar, Kadri Murat Erdoğan, Yasar B. Kutbay, Berk Ozyilmaz, Hande Gazeteci, Taha Reşid Özdemir, Murat Yildirim Kale, Gulden Diniz, Betül Kılıç, Nihal Olgaç Dündar, Filiz Meryem Sertpoyraz, Merve Saka Guvenc, Figen Baydan
Publikováno v:
Annals of Human Genetics. 83:331-347
Introduction Limb-girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because of this, the use of high-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85047259f93f365f24bd8c7b4e0aba90
https://doi.org/10.1111/ahg.12319
https://doi.org/10.1111/ahg.12319
Autor:
Wei Zhang, Zhaoxia Wang, Yilin Liu, Yun Yuan, Meng Yu, Hui Xiong, Yanbin Fan, Yue Hou, Zhiying Xie
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD genes. Knowledge about the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4c1d4ee3ebf6c47ebc7cbd7d7eb145b
http://link.springer.com/article/10.1186/s13023-019-1021-9
http://link.springer.com/article/10.1186/s13023-019-1021-9