A5047304438- Neurological diseases and metabolism
- Urological Disorders and Treatments
- Animal Genetics and Reproduction
- Fetal and Pediatric Neurological Disorders
- Prenatal Screening and Diagnostics
- Renal and related cancers
- Tuberous Sclerosis Complex Research
- Urinary and Genital Oncology Studies
- Genetic Mapping and Diversity in Plants and Animals
- Neurogenetic and Muscular Disorders Research
- Renal cell carcinoma treatment
- Tissue Engineering and Regenerative Medicine
- Hereditary Neurological Disorders
- Genomics and Chromatin Dynamics
- Congenital Anomalies and Fetal Surgery
- Cleft Lip and Palate Research
- Animal Virus Infections Studies
- Renal Diseases and Glomerulopathies
- Epigenetics and DNA Methylation
- Craniofacial Disorders and Treatments
- Skin and Cellular Biology Research
- Helicobacter pylori-related gastroenterology studies
- Virus-based gene therapy research
- Genomic variations and chromosomal abnormalities
- melanin and skin pigmentation
Uppsala University
2020-2025
Science for Life Laboratory
2020-2024
Uppsala University Hospital
2022-2024
Karolinska Institutet
2013-2019
Swedish University of Agricultural Sciences
2011-2016
Karolinska University Hospital
2014
The white spotting locus (S) in dogs is colocalized with the MITF (microphtalmia-associated transcription factor) gene. phenotypic effects of four S alleles range from solid colour to extreme (sw). We have investigated candidate mutations associated sw allele, a SINE insertion, SNP at conserved site and simple repeat polymorphism all MITF-M promoter as well 12 base pair deletion exon 1B. variants loci were also found among wolves we conclude that none these could be sole causal mutation,...
Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity early detection of large genetic abnormalities without increased risk miscarriage due invasive procedures. Commercial applications use at clinical laboratories often take advantage sequencing technologies and include the bioinformatic workup sequence data. interpretation test results report...
Epilepsy is the most common neurological disorder in dogs, with an incidence ranging from 0.5% to up 20% particular breeds. Canine epilepsy can be etiologically defined as idiopathic or symptomatic. Epileptic seizures may classified focal without secondary generalization, primary generalized. Nine genes have been identified for symptomatic (storage diseases) and one different However, genetic background of canine epilepsies remains unknown. We studied clinical Belgian Shepherds. collected...
Significance Degenerative myelopathy (DM) is a canine disease very similar to amyotrophic lateral sclerosis (ALS) in humans. We previously showed that DM promising model for ALS, because genome-wide association identified mutation superoxide dismutase 1 gene ( SOD1 ), known ALS gene. This found many dog breeds increases the risk of DM, and pathological findings clinical progression two diseases are similar. In this study, we identify modifier gene, SP110 nuclear body protein ) , which...
<h3>Importance</h3> Infantile hypertrophic pyloric stenosis (IHPS) is a serious condition in which hypertrophy of the sphincter muscle layer leads to gastric outlet obstruction. shows strong familial aggregation and heritability, but knowledge about specific genetic risk variants limited. <h3>Objectives</h3> To search genome comprehensively for associations with IHPS validate findings 3 independent sample sets. <h3>Design, Setting, Participants</h3> During stage 1, we used reference data...
Bladder exstrophy, a severe congenital urological malformation when child is born with an open urinary bladder, the most common form of bladder exstrophy-epispadias complex (BEEC) incidence 1:30,000 children Caucasian descent. Recent studies suggest that WNT genes may contribute to etiology exstrophy. Here, we evaluated WNT-pathway in 20 exstrophy patients using massively parallel sequencing. In total 13 variants were identified WNT3, WNT6, WNT7A, WNT8B, WNT10A, WNT11, WNT16, FZD5, LRP1 and...
Abstract Background ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases the same pathogenic variant detailed description their course. Case presentation Two subjects; boy BLSS requiring repeated skull expansions his mother who had been operated once for sagittal synostosis. Both developed intracranial hypertension at some point during course, which was both...
Birt-Hogg-Dube syndrome (BHDS) (MIM: 135150) is a rare autosomal dominant disorder with variable penetrance, caused by pathogenic variants in the FLCN gene. Only few hundreds of families have so far been described literature. Patients BHDS present three distinct symptoms: fibrofolliculomas, pneumothorax due to lung cyst formation, and increased lifetime risk kidney tumours. The aim current study was estimate incidence Swedish population further describe clinical manifestations their...
Although reporting the same clinical phenotype, inherited polyneuropathy in Leonberger dogs (ILPN) has been attributed to various modes of inheritance.The ILPN is one disease with a major risk factor on chromosome X.Dogs affected by (n = 104).Pedigree analyses were performed means case-control approach. Data retrieved either from medical records cases diagnosed first author 13), breeders 18) or different registries publishing data 73). A comparison was made between X-chromosome ancestry...
Abstract Background The bladder exstrophy‐epispadias complex (BEEC) is a congenital malformation of the and urethra. underlying causes this are still largely unknown; however, aside from environment, genetics thought to play an essential role. recurrent 22q11.2 microduplication most persistently detected genetic aberration found in BEEC cases. Methods We performed array comparative genomic hybridization (array‐CGH) analysis 76 Swedish patients. Statistical was on current dataset pooled with...
Epilepsy is one of the most common neurological conditions in dogs. Despite that epilepsy appears to be Rottweiler breed, published literature about phenotype this breed lacking. The aim questionnaire-based study was describe clinical characteristics including; signalment, pedigree, housing and information seizures such as age at onset, seizure type, duration, progression, well number days (24 h), effect side effects anti-epileptic drugs, potential comorbidities. diagnosis for unknown origin...
We report data of non-invasive prenatal testing (NIPT) at Uppsala University Hospital between 2017-2022. Furthermore, we illustrate the potential capacity massive parallel sequencing-based NIPT beyond identification common trisomies.