Ariana Kariminejad
A5016054564- Connective tissue disorders research
- Skin and Cellular Biology Research
- Genomic variations and chromosomal abnormalities
- Neurogenetic and Muscular Disorders Research
- RNA regulation and disease
- Genomics and Rare Diseases
- Hedgehog Signaling Pathway Studies
- Hereditary Neurological Disorders
- Dermatological and Skeletal Disorders
- Cellular transport and secretion
- Ocular Disorders and Treatments
- Wnt/β-catenin signaling in development and cancer
- Genetics and Neurodevelopmental Disorders
- Genetic and Kidney Cyst Diseases
- Prenatal Screening and Diagnostics
- Congenital limb and hand anomalies
- Ubiquitin and proteasome pathways
- Muscle Physiology and Disorders
- Neurological diseases and metabolism
- Cell Adhesion Molecules Research
- Autoimmune Bullous Skin Diseases
- Congenital Ear and Nasal Anomalies
- Nuclear Structure and Function
- Bone Metabolism and Diseases
- Mitochondrial Function and Pathology
Isfahan Fertility and Infertility Center
2014-2025
Deleted Institution
2022
University of Social Welfare and Rehabilitation Sciences
1999-2019
Amsterdam UMC Location Vrije Universiteit Amsterdam
2015-2018
Istanbul University
2018
Amsterdam Neuroscience
2018
Medical University of Silesia
2018
Children's Hospital Zagreb
2018
University of Zagreb
2018
Alzahra University
2018
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis this by sequencing most coding exons in affected individuals.Through search available case studies communication with collaborators, we identified families that included at least one individual three five main features DOORS syndrome: deafness, intellectual disability, seizures. Participants were recruited...
Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elusive. Due to the emergence next generation sequencing, virtually entire coding region an individual’s DNA can now be analysed through “whole” exome enabling almost all known novel investigated disorders such...
Abstract Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous these...
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by deficiency collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1. Biochemically this results underhydroxylation residues and, hence, an abnormal pattern pyridinoline (LP) and hydroxylysyl (HP) crosslinks excreted the urine. Clinically hypotonia kyphoscoliosis at birth, joint hypermobility, skin hyperelasticity fragility. Severe...
<h3>Background</h3> Fraser syndrome (FS) is a autosomal recessive malformation characterised by cryptophthalmos, syndactyly and urogenital defects. FS genetically heterogeneous condition. Thus far, mutations in <i>FRAS1</i> <i>FREM2</i> have been identified as cause of FS. Both encode extracellular matrix proteins that are essential for the adhesion between epidermal basement membrane underlying dermal connective tissues during embryonic development. Mutations murine <i>Grip1</i>, which...
Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of eye. A/M is a highly heterogeneous disorder with SOX2 FOXE3 playing major roles dominant recessive pedigrees, respectively; however, majority cases lack genetic etiology. We analyzed 28 probands affected spectrum (without mutations SOX2/FOXE3) by whole-exome sequencing. Analysis 83 known factors identified pathogenic/likely pathogenic variants PAX6, OTX2 NDP...
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss corticospinal tract function, lower limb spasticity, and weakness. Recent clinical use next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach HSP, but power NGS as first-tier procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential...
Abstract SNURPORTIN-1, encoded by SNUPN , plays a central role in the nuclear import of spliceosomal small ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic biallelic variants, predominantly clustered last coding exon, are ascertained to segregate disease. We demonstrate that mutant SPN1 failed oligomerize...
Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular systemic features. Coloboma a highly heterogeneous disorder many cases remaining unexplained. Whole exome sequencing two cousins affected dominant microcornea, cataracts, skeletal dysplasia identified novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the mutation was present all five family members disease appeared de novo first generation of three-generational pedigree....
To provide an overview of clinical and MRI characteristics the different variants leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) identify possible differentiating features.We performed international multi-institutional, cross-sectional observational study in patients genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians retrospective chart review.We included 204 classic MLC, 187 whom had recessive mutations MLC1 (MLC1...
Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting vessels including thoracic duct and cisterna chyli, presenting as chylothorax, pleural effusions, chylous ascites, lymphedema, is a severe disorder often resulting in fetal or perinatal demise. Although pathogenic variants RAS/mitogen activated protein kinase (MAPK) signaling pathway components have been documented some patients with CCLA, genetic etiology remains uncharacterized most cases....