Zobrazeno 1 - 10
of 352
pro vyhledávání: '"mild phenotype"'
Autor:
Aysylu Murtazina, Artem Borovikov, Andrey Marakhonov, Artem Sharkov, Inna Sharkova, Alena Mirzoyan, Sviatlana Kulikova, Ralina Ganieva, Viktoriia Zabnenkova, Oksana Ryzhkova, Sergey Nikitin, Elena Dadali, Sergey Kutsev
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Congenital myasthenic syndrome with episodic apnea is associated with pathogenic variants in the CHAT gene. While respiratory disorders and oculomotor findings are commonly reported in affected individuals, a subset of patients only present with musc
Externí odkaz:
https://doaj.org/article/9a7624574df34854837d3f4281fc3dae
Akademický článek
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Autor:
Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli, Claudio Bruno
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to
Externí odkaz:
https://doaj.org/article/0d3f19fa84244821be31d2f1fda0bffe
Autor:
Yoshinori Satomura, Kazuhiko Bessho, Nobutoshi Nawa, Hidehito Kondo, Shogo Ito, Takao Togawa, Masanao Yano, Yuki Yamano, Taisuke Inoue, Miho Fukui, Shinsuke Onuma, Tomoya Fukuoka, Kie Yasuda, Takeshi Kimura, Makiko Tachibana, Taichi Kitaoka, Shin Nabatame, Keiichi Ozono
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-6 (2022)
Abstract Background Arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is a rare autosomal recessive disorder caused by mutations in VPS33B (ARCS1) and VIPAS39 (ARCS2). As per literature, most patients with ARCS died of persistent inf
Externí odkaz:
https://doaj.org/article/ac1143801be74e5f85e9d7f8ee61ab4c
Akademický článek
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Autor:
Tannaz Moeini Shad, Reza Yazdani, Parisa Amirifar, Samaneh Delavari, Marzieh Heidarzadeh Arani, Seyed Alireza Mahdaviani, Mahnaz Sadeghi-Shabestari, Asghar Aghamohammadi, Nima Rezaei, Hassan Abolhassani
Publikováno v:
Frontiers in Immunology, Vol 12 (2022)
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem disorder. A minority of AT patients can present late-onset atypical presentations due to unknown mechanisms. The demographic, clinical, immunological and genetic d
Externí odkaz:
https://doaj.org/article/bc09feba54124673bcf9b84e5d028108
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
BackgroundNOD-like receptor family CARD-containing 4 protein (NLRC4) is a cytosolic protein that forms an inflammasome in response to flagellin and type 3 secretion system (T3SS) proteins from invading Gram-negative bacteria. NLRC4 mutations have bee
Externí odkaz:
https://doaj.org/article/efe3a148512a47e98b34d55fddb5ed3e
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Bianca Cinicola, Andrea Uva, Lucia Leonardi, Daniele Moratto, Silvia Giliani, Rita Carsetti, Simona Ferrari, Anna Maria Zicari, Marzia Duse
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
X-linked Agammaglobulinemia (XLA) is a rare genetic disorder of B-lymphocyte differentiation, characterized by the absence or paucity of circulating B cells, markedly reduced levels of all serum immunoglobulin isotypes and lack of specific antibody p
Externí odkaz:
https://doaj.org/article/c29b270a8d094776a668144d98a76847
Autor:
Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Shingo Ishimori, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background X‐linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the
Externí odkaz:
https://doaj.org/article/1ef35ddb885b45829121b2c1cd74c07a