Xiao Jie Dang

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Leigh syndrome is a subacute necrotising encephalomyopathy proven by post-mortem analysis of brain tissue showing spongiform lesions with vacuolation of the neuropil followed by demyelination, gliosis and capillary proliferation caused by mutations in one of over 75 different genes, including nuclear- and mitochondrial-encoded genes, most of which are(More)
Familial hemophagocytic lymphohistiocytosis type 2 (FHL2), caused by perforin 1 (PRF1), is a genetic disorder of lymphocyte cytotoxicity that usually presents in the first 2 years of life and has a poor prognosis. Late onset of FHL2 has been sporadically reported, and the mechanism is largely unknown. A newly diagnosed FHL2 patient was detected to have(More)
Congenital cataract is a clinical and genetic heterogeneous group of eye disorders that causes visual impairment and childhood blindness. In this study, a Chinese family with congenital cataract is studied. In order to identify the genetic defects which were associated with congenital cataract, a whole-exome sequencing approach is performed to screen for(More)
Alagille syndrome (AGS) is a highly variable, autosomal dominant disease that affects multiple structures including the liver, heart, eyes, bones and face. Targeted region capture sequencing focuses on a panel of known pathogenic genes and provides a rapid, cost‑effective and accurate method for molecular diagnosis. In a Chinese family, this method was used(More)
The Sorex araneus (common shrew), a member of the Soricidae family, is the most common shrew throughout Northern Europe. The region includes Great Britain, but excludes Ireland. Herein, we first publish the complete mitochondrial genome of S. araneus. The mitogenome is 16 887 bp in length, which contains 24 tRNA genes, 13 protein-coding genes, 2 rRNA genes(More)
Pundamilia nyererei (Perciformes, Cichlidae) is a member of Cichlid fishes that lives in the Great Lakes of East Africa. Fishes of the Cichlidae family can adapt spectacular trophic radiations and provide good potential examples of vertebrate adaptive radiations. Here, we firstly assembled the complete mitochondrial genome (mitogenome) of Pundamilia(More)
Brugada syndrome is a primary arrhythmic syndrome that accounts for 20% of all sudden cardiac death cases in individuals with a structurally normal heart. Pathogenic variants associated with Brugada syndrome have been identified in over 19 genes, with SCN5A as a pivotal gene accounting for nearly 30% of cases. In contrast to other arrhythmogenic(More)
The emperor penguin (Aptenodytes forsteri) is the largest living species of penguin. Herein, we first reported the complete mitochondrial genome of emperor penguin. The mitochondrial genome is a circular molecule of 17 301 bp in length, consisting of 13 protein-coding genes, 22 tRNA genes, two rRNA, and one control region. To verify the accuracy and the(More)
The Amazon molly, Poecilia formosa, a member of the Poeciliidae family, is a freshwater fish reproducing through gynogenesis. The complete mitochondrial genome of the P. formosa is determined for the first time in this study. It is a circular molecule of 16 542 bp in length, including 13 protein-coding genes, 22 transfer RNA genes, 2 ribosomal RNA genes and(More)