A5017673362- Retinal Development and Disorders
- Retinal Diseases and Treatments
- melanin and skin pigmentation
- Regulation of Appetite and Obesity
- Sexual Differentiation and Disorders
- Glaucoma and retinal disorders
- Biochemical Analysis and Sensing Techniques
- RNA regulation and disease
- Ocular Disorders and Treatments
- Animal Nutrition and Physiology
- Endoplasmic Reticulum Stress and Disease
- Genetic and phenotypic traits in livestock
- Genetic Syndromes and Imprinting
- Hormonal and reproductive studies
- Genetic and Kidney Cyst Diseases
- bioluminescence and chemiluminescence research
- Cell death mechanisms and regulation
- Iron Metabolism and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Connexins and lens biology
- Phytoplasmas and Hemiptera pathogens
- Mercury impact and mitigation studies
- Ocular and Laser Science Research
- Neurological diseases and metabolism
- Epigenetics and DNA Methylation
Poznan University of Medical Sciences
2014-2024
University of Life Sciences in Poznań
2008-2011
Significance The unfolded protein response regulator activating transcription factor 6 ( ATF6 ) was recently identified as a novel genetic cause of the cone photoreceptor disease achromatopsia. upregulates genes that help cells cope with endoplasmic reticulum stress. We pathomechanisms all achromatopsia mutations. Class 1 mutants show impaired (ER)-to-Golgi trafficking and diminished production transcriptional activator fragment. 2 encode intact domain full activity. 3 have defective basic...
46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types DSD less well defined, thus, precise diagnosis is challenging. This study focused on comparing relationship between clinical assessment genetic findings in cohort well-phenotyped patients with DSD. The was an analysis investigations followed by testing performed 35...
Leber congenital amaurosis (LCA) is a rare retinal disease that the most frequent cause of blindness in children and severe form inherited dystrophies. To date, 25 genes have been implicated pathogenesis LCA. As gene therapy becoming available, identification potential treatment candidates crucial. The aim study was to report molecular basis 22 Polish families.Single Nucleotide Polymorphism-microarray for LCA or Next Generation Sequencing diagnostic panel (or both tests) were performed...
There are five genes encoding melanocortin receptors. Among canids, the have mainly been studied in dog (MC1R, MC2R and MC4R). The MC4R gene has also analysed red fox. In this report, we present a study of chromosome localization, comparative sequence analysis polymorphism MC3R dog, fox, arctic fox Chinese raccoon dog. was localized by FISH to following chromosome: 24q24-25 14p16 18q13 NPP4p15 A high identity level sequences observed among species, ranging from 96.0% (red fox--Chinese dog)...
Leber hereditary optic neuropathy (LHON) is a rare disorder causing sudden painless loss of visual acuity in one or both eyes, affecting young males their second to third decade life. The molecular background the LHON up 90%, genetically defined by point mutation mitochondrial DNA. Recently, an autosomal recessive form (LHONAR1, arLHON) has been discovered, caused biallelic variants DNAJC30 gene. This study provides results gene analysis large group 46 Polish patients diagnosed with LHON,...
Jalili syndrome is a rare disorder inherited in an autosomal recessive pattern manifesting as combination of cone‐rod dystrophy including progressive loss visual acuity, color blindness, photophobia, and amelogenesis imperfecta with hypoplastic, immature, or hypocalcified dental enamel. It caused by mutations CNNM4 , which encodes the ancient conserved domain protein 4. Here we report three brothers muscle overgrowth legs. Myopathic changes were found needle electromyography. Mutational...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and pigment epithelial atrophy, leading to severe visual impairment or blindness. RP can be classified as nonsyndromic syndromic with complex clinical phenotypes. Three unrelated Polish probands affected retinitis coexisting cerebellar ataxia were recruited for this study. Clinical heterogeneity delayed appearance typical disease symptoms significantly prolonged patients’ diagnostic process....
The cocaine- and amphetamine-regulated transcript (CART) gene is a candidate that may affect performance body composition traits in the pig. purpose of this study was to establish chromosomal localization genomic sequence porcine CART gene, search for polymorphism analyse its phenotypic effect 644 pigs representing two breeds, Polish Large White (PLW) Landrace (PL), synthetic line 990 (L990). fluorescence situ hybridization (FISH)-mapped chromosome 16q21. 1878 bp DNA fragment covering three...
Numerous mutations of the human melanocortin receptor type 4 (MC4R) gene are responsible for monogenic obesity, and some them appear to be associated with predisposition or resistance polygenic obesity. Thus, this is considered a functional candidate fat tissue accumulation body weight in domestic mammals. The aim study was comparative analysis chromosome localization, nucleotide sequence, polymorphism MC4R two farmed species Canidae family, namely Chinese raccoon dog (Nycterutes...
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophies and frequent cause blindness in children. To date, 25 genes have been implicated pathogenesis this rare disorder. Performing an accurate molecular diagnosis crucial as gene therapy becoming available. This study aimed to report basis amaurosis, especially novel variants 27 Polish families with a clinical LCA fully confirmed by analyses. Whole exome sequencing or targeted next-generation (NGS)...
Figure S1 A comparison of the 5’UTR MCR4 gene in red fox (sequences with insertion and deletion) dog. As a service to our authors readers, this journal provides supporting information supplied by authors. Such materials are peer-reviewed may be re-organized for online delivery, but not copy-edited or typeset. Technical support issues arising from (other than missing files) should addressed Please note: The publisher is responsible content functionality any Any queries content) directed...
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of disorders with progressive loss photoreceptor pigment epithelial function. Nineteen unrelated Polish probands diagnosed nonsyndromic RP were recruited to this study. We used whole-exome sequencing (WES) identify potential pathogenic gene variants in molecularly undiagnosed patients, as molecular re-diagnosis after having performed targeted NGS the past. Targeted allowed for identification background only 5 out...
Choroideremia (CHM) is a rare X-linked recessive retinal dystrophy characterized by progressive chorioretinal degeneration in the males affected. The symptoms include night blindness childhood, peripheral vision loss and total late stages. disease caused mutations CHM gene encoding Rab Escort Protein 1 (REP-1). aim of study was to identify molecular basis choroideremia five families Polish origin. Six male patients from unrelated ethnicity, who were clinically diagnosed with choroideremia,...
Genetically determined ophthalmic diseases form a numerous and heterogenic group of disorders. Making the accurate clinical diagnosis genetic eye disease is often challenge for an ophthalmologist. In many cases, only testing enables establishment proper diagnosis. Here we describe two ultra-rare diseases: gyrate atrophy choroid retina (GACR) Kjer-type optic coexisting in 39-year-old Polish patient with severe visual impairment including significant reduction acuity night blindness. Atrophic...