Epilepsy and Cognitive Neurophysiology Laboratory, University of Alabama at Birmingham, Birmingham, AL, USA; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA.
Epilepsy and Cognitive Neurophysiology Laboratory, University of Alabama at Birmingham, Birmingham, AL, USA; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA.
Epilepsy and Cognitive Neurophysiology Laboratory, University of Alabama at Birmingham, Birmingham, AL, USA; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA.
Department of Pharmacology and Neuroscience, Texas Tech University Health Sciences Center, School of Medicine, Lubbock, TX, United States; Center of Excellence for Translational Neuroscience and Therapeutics, Texas Tech University Health Sciences Center, Lubbock, TX, United States. Electronic address: volker.neugebauer@ttuhsc.edu.
Movement Disorder and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Department of Neurology, Center for Brain Circuit Therapeutics, Harvard Medical School, Brigham and Women's Hospital, Boston, MA, United States.
Massachusetts General Hospital Neurosurgery and Center for Neurotechnology and Neurorecovery (CNTR) at MGH Neurology Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.
From the Department of Radiology (Q.C., J.L.G., K.K.), Department of Neurology (B.F.B., C.D., L.F., D.G., J.G.-R., D.J., D.K., R.K.), Department of Health Sciences Research (N.T., T.L., D.B., J.S.), Department of Psychology and Psychiatry (J.F., M.L.), Department of Clinical Genomic and Neurology (R.G.), Alzheimer's Disease Research Center (B.F.B., D.B., C.D., L.F., D.G., J.G.-R., D.J., D.K., R.K., R.R., K.K.), and Research Services (D.H.), Mayo Clinic, Rochester, MN; Department of Neurology (Q.C.), West China Hospital of Sichuan University, Chengdu, Sichuan; Departments of Neurology (N.G.-R., Z.K.W.) and Neuroscience (R.R.), Mayo Clinic, Jacksonville, FL; and Memory and Aging Center (H.R., A.L.B.), University of California San Francisco.
From the Department of Radiology (Q.C., J.L.G., K.K.), Department of Neurology (B.F.B., C.D., L.F., D.G., J.G.-R., D.J., D.K., R.K.), Department of Health Sciences Research (N.T., T.L., D.B., J.S.), Department of Psychology and Psychiatry (J.F., M.L.), Department of Clinical Genomic and Neurology (R.G.), Alzheimer's Disease Research Center (B.F.B., D.B., C.D., L.F., D.G., J.G.-R., D.J., D.K., R.K., R.R., K.K.), and Research Services (D.H.), Mayo Clinic, Rochester, MN; Department of Neurology (Q.C.), West China Hospital of Sichuan University, Chengdu, Sichuan; Departments of Neurology (N.G.-R., Z.K.W.) and Neuroscience (R.R.), Mayo Clinic, Jacksonville, FL; and Memory and Aging Center (H.R., A.L.B.), University of California San Francisco.
The factor H (FH) protein family is emerging as a complex network of proteins controlling the fate of the complement alternative pathway (AP) and dictating susceptibility to a wide range of diseases i...
Thrombotic microangiopathy (TMA) occurs in immunoglobulin A nephropathy (IgAN), and the pathogenesis is not known behind the endothelium injury. The genetic studies have indicated that complement fact...
We re-review microangiopathic lesions in 2055 IgAN patients by light microscopy. And 204 IgAN patients with MA and 1851 IgAN without MA are confirmed in this study. Nineteen single nucleotide polymorp...
The results show that 204 out of 2055(9.93 %) MA patients are screened from our IgAN cohort. Patients with MA lesions are strongly associated with more severe clinical conditions and higher serum comp...
Our results indicated that variants in CFH are associated with the development and progression of IgAN with microangiopathy....
The classical pathway of the complement system is activated by the binding of C1q in the C1 complex to the target activator, including immune complexes. Factor H is regarded as the key downregulatory ...
The APOE4 variant of apolipoprotein E (apoE) is the most prevalent genetic risk allele associated with late-onset Alzheimer's disease (AD). ApoE interacts with complement regulator factor H (FH), but ...
Venous thromboembolism (VTE) is a common, multi-causal disease with potentially serious short- and long-term complications. In clinical practice, there is a need for improved plasma biomarker-based to...
The objective of the study was to investigate the role of genetic variants in complement proteins in pre-eclampsia....
In a case-control study involving 609 cases and 2092 controls, five rare variants in complement factor H (CFH) were identified in women with severe and complicated pre-eclampsia. No variants were iden...
Pre-eclampsia is a leading cause of maternal and fetal morbidity and mortality. Immune maladaptation, in particular, complement activation that disrupts maternal-fetal tolerance leading to placental d...
We genotyped 609 pre-eclampsia cases and 2092 controls from FINNPEC and the national FINRISK cohorts....
Complement-based functional and structural assays were conducted in vitro to define the significance of these five missense variants and each compared with wild type....
Secretion, expression and ability to regulate complement activation were assessed for factor H proteins harbouring the mutations....
We identified five heterozygous rare variants in complement factor H (L3V, R127H, R166Q, C1077S and N1176K) in seven women with severe pre-eclampsia. These variants were not identified in controls. Va...
These results suggest that complement dysregulation due to mutations in complement factor H is among the pathophysiological mechanisms underlying severe pre-eclampsia....
To explore the role and underlying mechanism of Complement Factor H (CFH) in the peripheral and joint inflammation of RA patients....
The levels of CFH in the serum and synovial fluid were determined by ELISA. The pyroptosis of monocytes was determined by western blotting and flow cytometry. The inflammation cytokine release was tes...
CFH levels were significantly elevated in the serum and synovial fluid from RA and associated with high sensitivity C-reactive protein (hs-CRP), erythrocyte sedimentation rate (ESR), and disease activ...
In conclusion, we have unfolded the anti-inflammatory roles of CFH in the peripheral and joints of RA, which might provide a potential therapeutic target for RA patients....
Preterm birth (PTB) remains a significant public health concern, and prediction is an important objective, particularly in the early stages of pregnancy. Many studies have relied on cervical character...
We aimed to define the relationships between the serum concentrations of complement factors B and H in mid-pregnancy and the risk of preeclampsia (PE) in patients with gestational diabetes mellitus (G...
We performed a prospective nested case-control study of 503 patients with GDM who attended Peking University Third Hospital between March 2018 and December 2018. 456 patients were followed until deliv...
The incidence of PE was 5.96 %. The serum concentrations of triacylglycerol (TG), FB, and FH of women with GDM who developed PE (GDM-PE group) in mid-pregnancy were significantly higher than those of ...
High serum FB concentration during mid-pregnancy is a potential predictor of the risk of PE in patients with GDM, and the combination of FB, FH, and TG increased this predictive value....
Coexisting genetic variants in patients with anti-factor H (FH)-associated atypical hemolytic uremic syndrome (aHUS) have implications for therapy. We estimated the prevalence of complement genetic va...
Of 436 patients in the database, 77 consecutive patients, 21 with a relapse and 9 with kidney failure and/or death were included. Targeted sequencing, using a 27-gene panel including CFH, CFI, CFB, C3...
Patients had high anti-FH titers 5670 (2177-13,545) AU/ml, relapsing course (42.1%), and adverse outcomes (19.6%). Variants, chiefly of unknown significance, were found in 7 (6.5%; 95% CI 3.1-13.2%); ...
Significant variants in complement regulatory genes are rare in patients with anti-FH-associated aHUS. Irrespective of genetic defects, plasma exchanges and immunosuppression showed a statistical tren...