Carolina Maya‐González
A5043058371- Genomics and Rare Diseases
- RNA modifications and cancer
- Tumors and Oncological Cases
- Sarcoma Diagnosis and Treatment
- RNA regulation and disease
- Genetic and rare skin diseases.
- CAR-T cell therapy research
- Congenital heart defects research
- Biomedical and Engineering Education
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Epigenetics and DNA Methylation
- Genetic Neurodegenerative Diseases
- Ubiquitin and proteasome pathways
- Muscle Physiology and Disorders
- CRISPR and Genetic Engineering
- Peptidase Inhibition and Analysis
- Genetics and Neurodevelopmental Disorders
- Glioma Diagnosis and Treatment
- Genetics, Bioinformatics, and Biomedical Research
- Connective tissue disorders research
- Cancer Genomics and Diagnostics
- Genetic Syndromes and Imprinting
Karolinska Institutet
2023-2024
Karolinska University Hospital
2024
Science for Life Laboratory
2020-2021
Uppsala University
2020-2021
BackgroundChildhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood development. Yet, due variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective study that investigated diagnostic yield clinical impact integrating whole-genome sequencing (gWGS) tumor systematic phenotyping in solid tumors.MethodsgWGS was performed 309 at diagnosis CNS (n =...
Neurochondrin (NCDN) is a cytoplasmatic neural protein of importance for growth, glutamate receptor (mGluR) signaling, and synaptic plasticity. Conditional loss Ncdn in mice tissue causes depressive-like behaviors, impaired spatial learning, epileptic seizures. We report on NCDN missense variants six affected individuals with variable degrees developmental delay, intellectual disability (ID), Three siblings were found homozygous variant, whereas another three unrelated carried different de...
Muscular dystrophies and myotonic disorders are genetic characterized by progressive skeletal muscle degeneration weakness. Epidemiologic studies have found an increased cancer risk in dystrophy, although the spectrum is poorly characterized. In patients with muscular uncertain. We aimed to determine overall dystrophy using data from Swedish National registers.
Prader-Willi syndrome (PWS) is a rare disease caused by lack of expression inherited imprinted genes in the paternally derived critical region on chromosome 15q11.2-q13. It characterized poor feeding and hypotonia infancy, intellectual disability, behavioral abnormalities, dysmorphic features, short stature, obesity, hypogonadism. PWS not known cancer predisposition syndrome, but previous investigations regarding prevalence these patients suggest an increased risk developing specific types...
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal degenerative muscle disorder characterized by progressive weakness caused pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually abdominal cavity, molecularly presence of a EWSR1::WT1 fusion transcript. Mouse models dystrophy, including LGMDR1, present increased risk sarcomas. However, DSRCT general cancer patients with LGMD...
Incontinentia pigmenti (IP) is an X-linked dominant neuroectodermal dysplasia caused by loss-of-function mutations in the IKBKG gene. Using CRISPR/Cas9 technology, we generated knock-out iPSC line (KICRi002-A-1) on a 46,XY background. The showed normal karyotype, expressed pluripotency markers and exhibited capability to differentiate into three germ layers vitro. Off-target editing was excluded no mRNA expression could be detected. Our offers useful resource elucidate mechanisms deficiency...