Zobrazeno 1 - 10
of 369
pro vyhledávání: '"dystroglycanopathy"'
Autor:
Dandan Ling, Wanqin Xie, Xiao Mao, Shengzhi Yang, Haiyan Pang, Ping Yang, Ping Shen, Yabing Tang
Publikováno v:
Clinical Case Reports, Vol 12, Iss 4, Pp n/a-n/a (2024)
Key Clinical Message An encephalocele is a congenital malformation characterized by protrusion of the intracranial contents through a cranial defect. We report that a fetus of a pregnant mother who had two consecutive pregnancies with ultrasound‐de
Externí odkaz:
https://doaj.org/article/29e5902db2194324bd51e27b2711359d
Publikováno v:
Xin yixue, Vol 54, Iss 12, Pp 849-854 (2023)
Protein O-mannosyl-transferase 1 （POMT1） gene-encoded protein participates in the initial step of protein O-mannosylation modification and plays an important role in various physiological processes，such as cell connection and neuronal migration
Externí odkaz:
https://doaj.org/article/7733f223b65a430db3e39d890379a0e0
Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
POMGNT1, encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1, is one of the genes responsible for dystroglycanopathy (DGP), which includes multiple phenotypes such as muscle-eye-brain disease (MEB), congenital muscular dystrophy wit
Externí odkaz:
https://doaj.org/article/5761412c3b924a91bb268dcd88563e21
Autor:
Luisa Paul, Katrin Rupprich, Adela Della Marina, Anja Stein, Magdeldin Elgizouli, Frank J. Kaiser, Bernd Schweiger, Angela Köninger, Antonella Iannaccone, Ute Hehr, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt, Alma Kuechler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Walker-Warburg syndrome (WWS) is a rare form of alpha-dystroglycanopathy characterized by muscular dystrophy and severe malformations of the CNS and eyes. Bi-allelic pathogenic variants in POMK are the cause of a broad spectrum of
Externí odkaz:
https://doaj.org/article/5afe8591e55b4aadbf8bc23deba02c66
Publikováno v:
Нервно-мышечные болезни, Vol 10, Iss 2, Pp 12-21 (2020)
Dystroglycanopathy is one of the groups of congenital muscular dystrophies, the occurrence of which is associated with a disorder of α-dystroglycan glycosylation. To date, 18 genes responsible for the development of this condition are known. The 2nd
Externí odkaz:
https://doaj.org/article/14e1de00d91c483ca264b733118296ab
Autor:
Wen-Chen Liang, Yuh-Jyh Jong, Chien-Hua Wang, Chen-Hua Wang, Xia Tian, Wan-Zi Chen, Tzu-Min Kan, Narihiro Minami, Ichizo Nishino, Lee-Jun C. Wong
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous, hereditary disease characterized by limb-girdle weakness and histologically dystrophic changes. The prevalence of each subtype of LGMD varies among different et
Externí odkaz:
https://doaj.org/article/b9d1018908994e309627ccc9fcde0613
Akademický článek
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Autor:
Xiao-Yu Chen, Dan-Yu Song, Li Jiang, Dan-Dan Tan, Yi-Dan Liu, Jie-Yu Liu, Xing-Zhi Chang, Guo-Gang Xing, Tatsushi Toda, Hui Xiong
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
ObjectiveAlpha-dystroglycanopathy (α-DGP) is a subtype of muscular dystrophy caused by defects in the posttranslational glycosylation of α-dystroglycan (α-DG). Our study aimed to summarize the clinical and genetic features of POMT2-related α-DGP
Externí odkaz:
https://doaj.org/article/86eaa752ab9d45f5a00cfd625336073e
Autor:
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber
Publikováno v:
JIMD Reports, Vol 50, Iss 1, Pp 31-39 (2019)
Abstract Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurologic
Externí odkaz:
https://doaj.org/article/15fb8b1950804d25a28949915fc0f2f3
Autor:
Erin C. Bailey, Sarah S. Alrowaished, Elisabeth A. Kilroy, Emma S. Crooks, Daisy M. Drinkert, Chaya M. Karunasiri, Joseph J. Belanger, Andre Khalil, Joshua B. Kelley, Clarissa A. Henry
Publikováno v:
Skeletal Muscle, Vol 9, Iss 1, Pp 1-23 (2019)
Abstract Background Secondary dystroglycanopathies are muscular dystrophies that result from mutations in genes that participate in Dystroglycan glycosylation. Glycosylation of Dystroglycan is essential for muscle fibers to adhere to the muscle extra
Externí odkaz:
https://doaj.org/article/881d4955703e40b693bb573f23f66758