A5080234579- Retinal Development and Disorders
- RNA regulation and disease
- Glaucoma and retinal disorders
- Genetic and Kidney Cyst Diseases
- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- bioluminescence and chemiluminescence research
- Endoplasmic Reticulum Stress and Disease
- Cellular transport and secretion
- Retinal Diseases and Treatments
- Ocular and Laser Science Research
- melanin and skin pigmentation
- Glycogen Storage Diseases and Myoclonus
- Vascular Anomalies and Treatments
- Vascular Malformations and Hemangiomas
- Nuclear Receptors and Signaling
- Congenital gastrointestinal and neural anomalies
- Genomics and Rare Diseases
- Amino Acid Enzymes and Metabolism
- Connective tissue disorders research
- Intestinal Malrotation and Obstruction Disorders
- Congenital limb and hand anomalies
- Protein Tyrosine Phosphatases
- Urological Disorders and Treatments
Poznan University of Medical Sciences
2014-2024
The genetic and pharmacological rescue of pathogenic U1-dependent exon skipping in c.192G>C PARK7 restores PD-associated cellular abnormalities vitro.
Vascular malformations are present in a great variety of congenital syndromes, either as the predominant or additional feature. They pose major challenge to clinician: due significant phenotype overlap, precise diagnosis is often difficult obtain, some carry risk life threatening complications and, for many entities, treatment not well established. To facilitate their recognition and aid differentiation, we selection notable disorders vascular system development, distinguishing between...
Introduction Targeted Next-Generation Sequencing Panels (TNGSP) have become a standard in global clinical practice. Instead of questioning the necessity next-generation sequencing epilepsy patients, contemporary large-scale research focuses on factors such as size TNGSP, comparative advantages exome or genome-wide over and impact clinical, electrophysiological, demographic variables genetic test performance. This study aims to elucidate influencing performance TNGSP 138 Polish patients with...
Lehmann et al., [2003, 2006] have documented two different substitutions at position 486 of the BMPR1B gene which resulted in a phenotype brachydactyly A2 [MIM 112600] or C with symphalangism 113100].In this article we report family Polish extraction novel mutation: c.1457G>T (R486L) segregated complex brachydactyly. Clinical and radiological data are presented details previously reported patients pathogenic change an amino acid summarized.Our extends known mutational spectrum associated...
CLN8 is a ubiquitously expressed membrane-spanning protein that localizes primarily in the ER, with partial localization ER-Golgi intermediate compartment. Mutations cause late-infantile neuronal ceroid lipofuscinosis (LINCL). We describe female pediatric patient LINCL. She exhibited typical phenotype associated LINCL, except she did not present spontaneous myoclonus, her symptoms occurrence was slower and developed focal sensory visual seizures. In addition, whole-exome sequencing...
Abstract Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of and microdeletions critical chromosomal region 2q22-23, where gene located. characterized typical facial features that change with age, severe developmental delay intellectual disability, multiple congenital abnormalities. The authors describe clinical genetic aspects 28th patients diagnosed Poland. Characteristic dysmorphic features, psychomotor...
Marinesco-Sjögren syndrome (MSS) is a rare malformation inherited in an autosomal recessive manner. The most typical features are cerebellar ataxia with atrophy, dysarthria, nystagmus, early-onset cataract, myopathy, hypotonia and muscle weakness. Additional symptoms often include psychomotor delay, hypergonadotropic hypogonadism short stature. We present case of 6-year-old boy admitted to the Department due developmental retardation for completion further diagnostics. Initial diagnostics...