Search Results - "Yung Gee, Heon"
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SGLT2 inhibition modulates NLRP3 inflammasome activity via ketones and insulin in diabetes with cardiovascular disease
Published in Nature communications (01-05-2020)“…Sodium–glucose cotransporter 2 (SGLT2) inhibitors reduce cardiovascular events in humans with type 2 diabetes (T2D); however, the underlying mechanism remains…”
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2
Lactobacillus plantarum ameliorates NASH-related inflammation by upregulating l-arginine production
Published in Experimental & molecular medicine (01-11-2023)“…Lactobacillus is a probiotic with therapeutic potential for several diseases, including liver disease. However, the therapeutic effect of L. plantarum against…”
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3
Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis
Published in Nature communications (27-02-2019)“…Although hundreds of cytosolic or transmembrane molecules form the primary cilium, few secreted molecules are known to contribute to ciliogenesis. Here,…”
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Insulin-activated store-operated Ca2+ entry via Orai1 induces podocyte actin remodeling and causes proteinuria
Published in Nature communications (11-11-2021)“…Podocyte, the gatekeeper of the glomerular filtration barrier, is a primary target for growth factor and Ca 2+ signaling whose perturbation leads to…”
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Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome
Published in American journal of human genetics (08-01-2015)“…Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive…”
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6
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study
Published in Human genetics (01-04-2022)“…This phenotype–genotype study aimed to investigate the extent of audioprofile variability related to cochlin major domains and to identify potential…”
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PLCE1 regulates the migration, proliferation, and differentiation of podocytes
Published in Experimental & molecular medicine (01-04-2020)“…PLCE1 encodes phospholipase C epsilon, and its mutations cause recessive nephrotic syndrome. However, the mechanisms by which PLCE1 mutations result in defects…”
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Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
Published in American journal of human genetics (05-06-2014)“…Ciliopathies are a group of hereditary disorders associated with defects in cilia structure and function. The distal appendages (DAPs) of centrioles are…”
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9
Grasp55−/− mice display impaired fat absorption and resistance to high-fat diet-induced obesity
Published in Nature communications (17-03-2020)“…The Golgi apparatus plays a central role in the intracellular transport of macromolecules. However, molecular mechanisms of Golgi-mediated lipid transport…”
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10
Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
Published in Scientific reports (06-04-2017)“…Discriminating between inherited and non-inherited sporadic hearing loss is challenging. Here, we attempted to delineate genetic inheritance in simplex cases…”
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Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss
Published in Experimental & molecular medicine (01-07-2021)“…Loss-of-function variant in the gene encoding the KCNQ4 potassium channel causes autosomal dominant nonsyndromic hearing loss (DFNA2), and no effective…”
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12
Overlooked KCNQ4 variants augment the risk of hearing loss
Published in Experimental & molecular medicine (01-04-2023)“…Pathogenic variants of KCNQ4 cause symmetrical, late-onset, progressive, high-frequency-affected hearing loss, which eventually involves all frequencies with…”
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13
Unconventional protein secretion - new insights into the pathogenesis and therapeutic targets of human diseases
Published in Journal of cell science (25-06-2018)“…Most secretory proteins travel through a well-documented conventional secretion pathway involving the endoplasmic reticulum (ER) and the Golgi complex…”
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14
Rescue of ΔF508-CFTR Trafficking via a GRASP-Dependent Unconventional Secretion Pathway
Published in Cell (02-09-2011)“…The most prevalent disease-causing mutation of CFTR is the deletion of Phe508 (ΔF508), which leads to defects in conventional Golgi-mediated exocytosis and…”
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15
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
Published in Nature (London) (14-06-2012)“…Mutations in SHANK2 have been associated with autism spectrum disorders in humans; here, Shank2 mutant mice are shown to exhibit autistic-like behaviours that…”
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16
A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children
Published in Journal of allergy and clinical immunology (01-12-2011)“…Background Atopic diseases are the most common chronic diseases of childhood, and the genetics of atopy are complex and heterogeneous. Protease-activated…”
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A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
Published in Journal of the American Society of Nephrology (01-06-2015)“…Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First…”
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18
PARK2 as a susceptibility factor for nontuberculous mycobacterial pulmonary disease
Published in Respiratory research (14-08-2024)“…The genetic signatures associated with the susceptibility to nontuberculous mycobacterial pulmonary disease (NTM-PD) are still unknown. In this study, we…”
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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
Published in Nature genetics (01-07-2017)“…Sudipto Roy, Carol Wicking, Carsten Bergmann and colleagues report that mutations in DZIP1L cause autosomal recessive polycystic kidney disease (ARPKD)…”
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Deep learning outperforms kidney organoid experts
Published in Kidney research and clinical practice (01-01-2023)Get full text
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