A5063431190- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Pediatric Urology and Nephrology Studies
- Lipid metabolism and disorders
- Urological Disorders and Treatments
- Chronic Kidney Disease and Diabetes
- Ion Transport and Channel Regulation
- Genetic and Kidney Cyst Diseases
- Coenzyme Q10 studies and effects
- Renal cell carcinoma treatment
- Birth, Development, and Health
- Immune Cell Function and Interaction
- Renal Transplantation Outcomes and Treatments
- Urinary Tract Infections Management
- Genomics and Rare Diseases
- Dialysis and Renal Disease Management
- Digestive system and related health
- Genetic Syndromes and Imprinting
- Caveolin-1 and cellular processes
- Central Venous Catheters and Hemodialysis
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Parvovirus B19 Infection Studies
- Vasculitis and related conditions
- Autoimmune and Inflammatory Disorders Research
- Nuclear Structure and Function
Children's Hospital of Fudan University
2015-2024
Anhui Medical University
2023-2024
Jilin Agricultural Science and Technology University
2024
Indian Space Research Organisation
2023
Jingning County People's Hospital
2022
Fudan University
2008-2022
State Key Laboratory of Medical Neurobiology
2019-2022
Wuhan Children's Hospital
2020-2022
Huazhong University of Science and Technology
2020-2022
Boston Children's Hospital
2007-2021
Background and objectives Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified cause steroid-resistant syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with Panel has a number limitations when compared whole exome sequencing. employed detect causes an international cohort 300 families. Design, setting, participants, & measurements Three hundred thirty-five...
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 over 40 monogenic genes can be detected approximately 30% individuals with SRNS whose symptoms manifest before 25 years age. However, many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive SRNS. In 7 families and facultative ichthyosis, adrenal insufficiency, immunodeficiency, neurological defects, identified 9 different...
Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been described, a large proportion remains unexplained. Recently, it was discovered that mutations NUP93 and NUP205, encoding 2 proteins the inner ring subunit nuclear pore complex (NPC), cause SRNS. Here, we describe in genes 4 components outer rings NPC, namely NUP107, NUP85, NUP133, NUP160, 13 families with Using coimmunoprecipitation...
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS 17 families with partially treatment-sensitive (pTSNS). These proteins interact and delineate their roles Rho-like small GTPase (RLSG) activity, demonstrate deficiency mutants pTSNS patients. We find that CDK20 regulates DLC1. Knockdown MAGI2, or cultured podocytes reduces migration rate....
Hemophagocytic lymphohistiocytosis (HLH) is a relatively rare but life-threatening disease with confusing clinical manifestations, rapidly deteriorating health, high morbidity and mortality.To improve the recognition as well understanding of this disorder, we analyzed characteristics prognostic factors from 85 adult patients diagnosed HLH in our hospital April 2005 to June 2014.Patients displayed variable markers across wide spectrum. These included fever hyperferritinemia (100%), elevated...
Primary Coenzyme Q10 (CoQ10) deficiency is an ultra-rare disorder caused by defects in genes involved CoQ10 biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. Promising early results have been reported anecdotally with oral supplementation. However, long-term efficacy and optimal prescription remain be established. In a global effort, we collected analyzed information from 116 patients who received supplements for primary due biallelic...
Phlorizin, as a flavonoid from wide range of sources, is gradually becoming known for its biological activity. Phlorizin can exert antioxidant effects by regulating the IL-1β/IKB-α/NF-KB signaling pathway. At same time, it exerts antibacterial activity reducing intracellular DNA agglutination, protein and energy synthesis, destroying metabolism. In addition, phlorizin also has various pharmacological such antiviral, antidiabetic, antitumor, hepatoprotective effects. Based on domestic foreign...
Galloway-Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease, manifesting proteinuria. To identify additional monogenic disease causes, we here performed whole exome sequencing (WES), linkage analysis, and homozygosity mapping in three affected siblings of an Indian family GAMOS. Applying established criteria for variant filtering, novel homozygous splice site mutation the gene WDR4 as likely...
To explore the approaches and diagnostic yield of genetic testing for renal disease in children, we describe genotype phenotype national cohort children with from 13 different regions China recruited 2014 to 2018 by building up multicenter registration system (Chinese Children Genetic Kidney Disease Database, CCGKDD). diagnosis was confirmed 42.1% our 1001 pediatric patients clinical suspicion a disease. Of 106 distinct monogenetic disorders detected, 15 accounted 60.7% diagnoses. The 29.1%...
Abstract Background Acute myeloid leukemia (AML) is an immunophenotypically heterogenous malignant disease, in which CD34 positivity associated with poor prognosis. + AML cells are 10-15-fold more resistant to daunorubicin (DNR) than - cells. Curcumin a major component of turmeric that has shown cytotoxic activity multiple cancers; however, its anti-cancer not been well studied DNR-insensitive The aim this study was therefore explore curcumin-induced cytotoxicity cell lines (KG1a, Kasumi-1),...
Background Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of CKD. The discovery monogenic causes SRNS has revealed specific pathogenetic pathways, but these do not explain all cases SRNS. Methods To identify novel SRNS, we screened 665 patients by whole-exome sequencing. We then evaluated the in vitro functional significance two genes and mutations therein that discovered through this sequencing conducted complementary studies podocyte-like Drosophila nephrocytes. Results...
Glomerular podocytes are highly differentiated cells whose foot processes, which mainly maintained by the architecture of actin filaments, have a unique morphology. A rearrangement F-actin in causes changes their motility that involve process effacement and proteinuria glomerular diseases. Members Rho family small GTPases, especially RhoA, Rac1, Cdc42, key molecules regulation cytoskeleton rearrangement. Our previous study showed angiopoietin-like 3 (Angptl3) can increase vitro . In this...
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of chronic kidney disease. Here, we identified recessive mutations in the gene encoding actin-binding protein advillin (AVIL) 3 unrelated families with SRNS. While all AVIL resulted marked loss its actin-bundling ability, truncation also disrupted colocalization F-actin, thereby leading to impaired actin binding and severing. Additionally, colocalized interacted phospholipase enzyme PLCE1 ARP2/3 actin-modulating complex....
Abstract Background Congenital anomalies of the kidneys and urinary tract (CAKUT) are most common cause prenatally diagnosed developmental malformation. This study aimed to assess relationship between maternal diseases CAKUT in offspring. Methods retrospective enrolled all pregnant women registered from January 2020 December 2022 at one medical center. Medical information on noncommunicable diseases, including obesity, hypertension, diabetes mellitus, kidney disease, hyperthyroidism,...
To evaluate the accuracy of an acute (99m)Tc-dimercaptosuccinic acid (DMSA) scan in predicting dilating vesicoureteral reflux (VUR) among young children with a febrile urinary tract infection (UTI).The medical records (≤ 2 years age), presenting UTI between January 2000 and December 2011, were retrospectively reviewed.A total 523 included this study, whom 397 (75.9%) had abnormal DMSA results 178 (34.0%) identified as VUR on micturating cystourethrography (MCU). Among all patients, number...
Podocyte detachment and apoptosis are two risk factors causing podocyte loss, F-actin rearrangement is involved in apoptosis. However, the nature of events that promote podocytes whether occurred simultaneously with still unclear. Previously, it was found angiopoietin-like3 (Angptl3) induces podocytes. In this study we investigate Angptl3 influences loss (detachment apoptosis) process through which exactly influenced loss. conditionally immortalized mice podocytes, recombinant protein...
Abstract Background Congenital anomalies of the kidney and urinary tract (CAKUT) are prevalent birth defects. Although pathogenic CAKUT genes known, they insufficient to reveal causes for all patients. Our previous studies indicated GEN1 as a gene in mice, this study further investigated correlation between human CAKUT. Methods In study, DNA from 910 individuals with was collected; 26 rare variants were identified, two (missense) non-CAKUT group found. Mainly due stability results predicted...
Nephrotic syndrome (NS), a chronic kidney disease, is characterized by significant loss of protein in the urine causing hypoalbuminemia and edema. In general, ∼15% childhood-onset cases do not respond to steroid therapy are classified as steroid-resistant NS (SRNS). ∼30% with SRNS, causative mutation can be detected one 44 monogenic SRNS genes. The gene LAMA5 encodes laminin-α5, an essential component glomerular basement membrane. Mice hypomorphic orthologous Lama5 develop proteinuria...