Zobrazeno 1 - 10
of 597
pro vyhledávání: '"Homozygous mutation"'
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Background Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of hereditary diseases caused by the gradual degeneration of the lower motor neuron. More than 30 genes associated with dHMN have been reported, while 70–80% of
Externí odkaz:
https://doaj.org/article/6163b4a315104e9faa98039f5d6089fa
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Primary familial brain calcification (PFBC) is a rare hereditary neurodegenerative disorder associated with the MYORG gene; however, the clinical and radiological characteristics of MYORG‐PFBC remain unclear. Methods We present
Externí odkaz:
https://doaj.org/article/b8e298a5f53c4588b4ab6b6b9f23f581
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with genetic and clinical heterogeneity characterized by spasticity and weakness of the lower limbs. It includes four genetic inheritance forms: autosomal dominant inheritan
Externí odkaz:
https://doaj.org/article/337daccfdf8c41e5a11655221a12a1ab
Akademický článek
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Autor:
ShuPing Liu, Ting Zeng, Cheng Luo, DanXia Peng, Xuan Xu, Qin Liu, Qiong Wu, Qin Lu, FuRong Huang
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundMelanocortin-2 receptor (MC2R), a member of the G protein-coupled receptor family, is selectively activated by adrenocorticotropic hormone (ACTH). variants in MC2R are associated with family glucocorticoid deficiency 1 (FGD1).Case presentat
Externí odkaz:
https://doaj.org/article/b2a74dc4885645da938f491d2c0ab6bd
Autor:
Man Luo, Jiao‐Li Wang
Publikováno v:
Respirology Case Reports, Vol 10, Iss 10, Pp n/a-n/a (2022)
Abstract Interstitial lung diseases (ILDs) are common respiratory diseases with limited treatment options and poor prognoses. Early and accurate diagnosis of ILD is challenging and requires a multidisciplinary discussion. We report a 32‐year‐old
Externí odkaz:
https://doaj.org/article/643357e8a7eb4155b4e85f6ffa154a05
Publikováno v:
Journal of Pediatric and Neonatal Individualized Medicine, Vol 11, Iss 2, Pp e110209-e110209 (2022)
The NDUFB8 gene, located at 10q24.31, encodes a nuclear-encoded accessory subunit that is essential for the stability and activity of the mitochondrial complex. In this report, we describe a novel homozygous mutation in the NDUFB8 gene that was assoc
Externí odkaz:
https://doaj.org/article/a036d35c020045b8977cab7827b154e6
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare inherited monogenic autoimmune disease characterized by the presence of at least two of three following major clinical features: chronic mucocutaneous candidiasis, hypoparathyroidism, and adr
Externí odkaz:
https://doaj.org/article/a993d86a5821406c8e5ec01cdf027534
Autor:
Fang-Yuan Qian, Yu-Dong Guo, Juan Zu, Jin-Hua Zhang, Yi-Ming Zheng, Idriss Ali Abdoulaye, Zhao-Hui Pan, Chun-Ming Xie, Han-Chao Gao, Zhi-Jun Zhang
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-20 (2021)
Abstract Mutations in the DNAJB6 gene have been identified as rare causes of myofibrillar myopathies. However, the underlying pathophysiologica mechanisms remain elusive. DNAJB6 has two known isoforms, including the nuclear isoform DNAJB6a and the cy
Externí odkaz:
https://doaj.org/article/e97274fad27041c2892e2fb5bedb7ecf
Autor:
Zhengxia Zhong, Xiaoyong Yan, Zhengying Fang, Yijun Dong, Jiaxing Tan, Jingyuan Xie, Linhong Hu, Shibin Zhang, Wei Qin
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Objective: Nephronophthisis (NPHP) is a rare autosomal recessive inherited kidney disease that can cause cystic enlargement of the kidneys, and lead to end-stage renal disease (ESRD) before the age of 30 years. Herein we describe a case of adolescent
Externí odkaz:
https://doaj.org/article/ef9c2fd6c5994026b70427257f8493a6