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Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG).
J AAPOS
August 2024
The Vision Center at Children's Hospital Los Angeles, Los Angeles, California; USC Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, California; Veterans Affairs Los Angeles Ambulatory Care Center, Los Angeles, California. Electronic address:
Congenital disorders of glycosylation type I (CDG-I) are a group of autosomal recessive genetic multisystem disorders that arise from defective glycoprotein biosynthesis. Although ocular abnormalities have been described in patients with CDG-I, few ocular abnormalities have been associated with ALG12-CDG (CDG-Ig), a rare subtype of CDG-I. We report a case of Duane syndrome, a congenital strabismus syndrome, in a 17-year-old young woman with ALG12-CDG.
View Article and Find Full Text PDFDPM2 serve as novel oncogene and prognostic marker transactivated by ESR1 in breast cancer.
Environ Toxicol
March 2024
Shanghai Putuo Central School of Clinical Medicine, Anhui Medical University, Shanghai, China.
Breast cancer (BRCA) is the most common malignancies worldwide with increasing rate. Dolichol phosphate mannose synthase (DPMS) is a critical mannosyltransferase involved in the posttranslational modification of proteins. At present, there is limited knowledge regarding the function of DPMS in breast cancer.
View Article and Find Full Text PDFDistinctive Metabolism-Associated Gene Clusters That Are Also Prognostic in Intrahepatic Cholangiocarcinoma and Hepatocellular Carcinoma.
Oxid Med Cell Longev
October 2022
Department of Hepatobiliary and Pancreatic Surgery, Affiliated Jinhua Hospital, Zhejiang University School of Medicine, Jinhua, China.
Objective: To offer new prognostic evaluations by exploring potentially distinctive genetic features of hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC).
Methods: There were 12 samples for gene expression profiling processes in this study. These included three HCC lesion samples and their matched adjacent nontumor liver tissues obtained from patients with HCC, as well as three ICC samples and their controls collected similarly.
Fringe-positive Golgi outposts unite temporal Furin 2 convertase activity and spatial Delta signal to promote dendritic branch retraction.
Cell Rep
September 2022
Institute of Molecular Biology, Academia Sinica, Taipei 11529, Taiwan; Taiwan International Graduate Program in Interdisciplinary Neuroscience, National Yang Ming Chiao Tung University and Academia Sinica, Taipei 11529, Taiwan; Neuroscience Program of Academia Sinica, Academia Sinica, Taipei 11529, Taiwan. Electronic address:
Golgi outposts (GOPs) in dendrites are known for their role in promoting branch extension, but whether GOPs have other functions is unclear. We found that terminal branches of Drosophila class IV dendritic arborization (C4da) neurons actively grow during the early third-instar (E3) larval stage but retract in the late third (L3) stage. Interestingly, the Fringe (Fng) glycosyltransferase localizes increasingly at GOPs in distal dendritic regions through the E3 to the L3 stage.
View Article and Find Full Text PDFSusceptibility Loci in SLC15A1, UGT1A3, and CWC27 Genes Associated with Bladder Cancer in the Northeast Chinese Population.
Biomed Res Int
November 2022
Department of Pathology, First Affiliated Hospital and College of Basic Medical Sciences of China Medical University, Shenyang 110001, China.
Bladder cancer (BCa) is an increasingly severe clinical and public health issue. Therefore, we aim to investigate BCa susceptibility loci in the Chinese population. In this study, 487 BCa patients and 563 controls were recruited from the First Affiliated Hospital of China Medical University from July 2015 to September 2020.
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