A5005572954- Genomics and Rare Diseases
- Systemic Lupus Erythematosus Research
- Diet and metabolism studies
- Epilepsy research and treatment
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Immunodeficiency and Autoimmune Disorders
- T-cell and B-cell Immunology
- Genomic variations and chromosomal abnormalities
- IL-33, ST2, and ILC Pathways
- Liver Disease Diagnosis and Treatment
- BRCA gene mutations in cancer
- Adipose Tissue and Metabolism
- Diet, Metabolism, and Disease
- Lysosomal Storage Disorders Research
- Pancreatic function and diabetes
- Biliary and Gastrointestinal Fistulas
- Blood Coagulation and Thrombosis Mechanisms
- Amino Acid Enzymes and Metabolism
- interferon and immune responses
- Pediatric Hepatobiliary Diseases and Treatments
- Monoclonal and Polyclonal Antibodies Research
- Tuberculosis Research and Epidemiology
- Folate and B Vitamins Research
Goce Delcev University
2022-2025
The Francis Crick Institute
2023-2024
Australian National University
2006-2023
The University of Sydney
2022
Saints Cyril and Methodius University of Skopje
2021-2022
Institut za filozofiju
2022
Klinički Bolnički Centar Rijeka
2022
University of Zagreb
2022
Renji Hospital
2018-2021
Shanghai Jiao Tong University
2019-2021
Abstract Objective: We examined whether glucose transporter 1 (GLUT1) deficiency causes common idiopathic generalized epilepsies (IGEs). Methods: The IGEs are common, heritable that usually follow complex inheritance; currently little is known about their genetic architecture. Previously considered rare, GLUT1 deficiency, due to mutations in SLC2A1 , leads failure of transport across the blood–brain barrier and inadequate for brain metabolism. was first associated with an encephalopathy more...
To determine if a significant proportion of patients with myoclonic-astatic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency.Genetic analysis.Ambulatory and hospitalized care.Eighty-four unrelated probands MAE were phenotyped SLC2A1 was sequenced analyzed by multiplex ligation-dependent probe amplification. Any identified mutations then screened in controls.Any mutations.Four 84 had mutation on sequencing. Multiplex amplification analysis did not reveal any genomic rearrangements...
Abstract Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disease. It thought that many common variant gene loci of weak effect act additively to predispose diseases, while contribution rare variants remains unclear. Here we describe coding in lupus-risk genes are present most SLE patients and healthy controls. We demonstrate functional consequences low frequency missense interacting proteins BLK BANK1, which alone, or combination, a substantial proportion patients....
Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause genetic generalized epilepsy. We previously reported that >10% (4 34) a cohort with early onset absence epilepsy (EOAE) had GLUT1 deficiency. This study uses new 55 patients EOAE to confirm finding. Patients typical seizures beginning before 4 years age were screened for solute carrier family 2 (facilitated glucose transporter), member (SLC2A1) or deletions. All spike-waves on...
Mutations in the human ALMS1 gene are responsible for Alström syndrome, a disorder which key metabolic and endocrinological features include childhood-onset obesity, diabetes, as well infertility. localizes to basal bodies of cilia plays role intracellular trafficking, but biological functions how these relate pathogenesis infertility remain unclear. Here we describe new mouse model fat aussie, caused by spontaneous mutation Alms1 gene. Fat aussie (Alms1 foz/foz) mice normal weight when...
<h3>Objective:</h3> To determine the genetic etiology of severe early infantile onset syndrome malignant migrating partial seizures infancy (MPSI). <h3>Methods:</h3> Fifteen unrelated children with MPSI were screened for mutations in genes associated epileptic encephalopathies: <i>SCN1A</i>, <i>CDKL5</i>, <i>STXBP1</i>, <i>PCDH19</i>, and <i>POLG</i>. Microarray studies performed to identify copy number variations. <h3>Results:</h3> One patient had a de novo <i>SCN1A</i> missense mutation...
Obese Alms1 mutant (foz/foz) NOD.B10 mice develop diabetes and fibrotic NASH when fed high-fat(HF) diet. To establish whether or obesity is more closely associated with fibrosis, we compared diabetic foz/foz C57BL6/J non-diabetic BALB/c mice. We also determined hepatic cytokines, growth factors related profibrotic pathways.Male female were HF chow for 24 weeks before determining metabolic indices, liver injury, factors, pathology/fibrosis matrix deposition pathways.All obese. Hepatomegaly,...
B cell self-tolerance is maintained through multiple checkpoints, including restraints on intracellular signaling and trafficking. P2RY8 a receptor with established roles in germinal center (GC) migration inhibition growth regulation. Somatic variants are common GC-derived lymphomas. Here, we identify germline novel or rare missense lupus kindreds the related antiphospholipid syndrome, “de novo” variant child severe nephritis. All decreased protein expression, F-actin abundance, GPCR-RhoA...
We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia. PME is rare, often fatal syndrome, initially responsive to antiepileptic drugs which over time becomes refractory and can be associated cognitive decline. Linkage analysis was performed the disease locus narrowed chromosome 19p13.3. Fourteen candidate genes were screened by conventional Sanger sequencing in one, LMNB2, novel homozygous missense...
Increased Toll-like receptor 7 (TLR-7) signaling leading to the production of type I interferon (IFN) is an important contributor human systemic lupus erythematosus (SLE). Protein kinase C and casein substrate in neurons 1 (PACSIN1), a molecule that regulates synaptic vesicle recycling, has been linked TLR-7/TLR-9-mediated IFN humans mice, but underlying mechanism unknown. We undertook this study explore pathogenicity de novo PACSIN1 missense variant identified child with SLE.PACSIN1 Q59K...
Genome sequencing is a powerful and comprehensive test that detects multiple variants of different types. The interrogation across the genome enables identification molecular diagnoses (MMDs) in single individual. In this retrospective study, we describe individuals whom MMDs were associated with proband's indication for testing (IFT), secondary findings, or incidental findings. An MMD considered where at least one findings primary IFT all are classified as either likely pathogenic...
Two unrelated families were ascertained in which sisters had infantile onset of epilepsy and developmental delay. Mutations the protocadherin 19 (PCDH19) gene cause mental retardation limited to females (EFMR). Despite both sister pairs having a PCDH19 mutation, neither parent each family was heterozygous carrier mutation. The possibility parental mosaicism mutations investigated.Genomic DNA from peripheral blood obtained sequenced for mutations. Parentage confirmed by markers.Both have...
In 2003, an Australian woman was convicted by a jury of smothering and killing her four children over 10-year period. Each child died suddenly unexpectedly during sleep period, at ages ranging from 19 days to 18 months. 2019 we were asked investigate if genetic cause could explain the children's deaths as part inquiry into mother's convictions.Whole genomes or exomes mother sequenced. Functional analysis novel CALM2 variant performed measuring Ca2+-binding affinity, interaction with calcium...
The aim was to investigate different genotypes and haplotypes of methylenetetrahydrofolate reductase (MTHFR-677, -1298) plasma concentration total homocysteine (tHcy) in Macedonian patients with occlusive artery disease (OAD) deep venous thrombosis (DVT). Investigated groups consists 80 healthy, 74 OAD, 63 DVT. Plasma tHcy measured Microplate Enzyme Immunoassay. Identification MTHFR done CVD StripAssay. probability level (P-value) evaluated by the Student's t-test. CC CT C677T significantly...
AimTo analyze the association of methylenetetrahydrofolate reductase polymorphisms (MTHFR-677 and MTHFR-1298) with occlusive artery disease deep venous thrombosis in Macedonians.MethodsWe examined 83 healthy respondents, 76 patients disease, 67 thrombosis. Blood samples were collected DNA was isolated from peripheral blood leukocytes. Identification MTHFR mutations done CVD StripAssay (ViennaLab, Labordiagnostika GmbH, Vienna, Austria) population genetics analysis package, PyPop, used for...
Specific IgA, IgG, and IgE antibodies to food antigens in 35 participants with autistic disorder 21 of their siblings the Republic Macedonia were examined. Statistically significant higher plasma concentration IgA against alpha-lactalbumin, beta-lactoglobulin, casein, gliadin found children disorder. Plasma concentrations IgG casein significantly higher. IgE-specific (alpha-lactalbumin, gluten), as well total IgE, also statistically Gender differences for select (but not IgE) food-specific...
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation with infantile-onset epilepsy and severe developmental delay. Non-classical phenotypes movement disorders early-onset absence are increasingly recognized clinical spectrum expanding. hallmark hypoglycorrhachia (cerebrospinal fluid [CSF] glucose<2.2mmol/l) in presence of normoglycaemia CSF/blood ratio less than 0.4. GLUT1DS due...