A5011785723- Retinal Development and Disorders
- Neuroendocrine Tumor Research Advances
- Retinal Diseases and Treatments
- RNA regulation and disease
- DNA Repair Mechanisms
- Photoreceptor and optogenetics research
- Genomic variations and chromosomal abnormalities
- Connexins and lens biology
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Neuroblastoma Research and Treatments
- BRCA gene mutations in cancer
- Ocular Disorders and Treatments
- RNA and protein synthesis mechanisms
- CRISPR and Genetic Engineering
- Endoplasmic Reticulum Stress and Disease
- Pancreatic and Hepatic Oncology Research
- PI3K/AKT/mTOR signaling in cancer
- Cancer-related Molecular Pathways
- Thyroid Cancer Diagnosis and Treatment
- Animal Genetics and Reproduction
- Lung Cancer Research Studies
- Chromosomal and Genetic Variations
- Glycosylation and Glycoproteins Research
- Protein Tyrosine Phosphatases
Neurological Institute of Athens
2014-2024
Clinical Research Consortium
2020
University of Crete
2004-2011
National and Kapodistrian University of Athens
2004-2009
Genetic Analysis (Norway)
2008
Institute of Molecular Biology and Biotechnology
1997-1999
Foundation for Research and Technology Hellas
1996-1997
University of London
1995
Institute of Ophthalmology
1995
Newcastle University
1993
Background and purpose Although the first mutation associated with Parkinson's disease ( PD ) was identified several years ago in alpha‐synuclein SNCA gene families of Greek Italian ancestry, a more systematic study this other known mutations has not been performed population. Methods A genetic analysis 111 familial or sporadic early‐onset (≤50 years, EO patients for presence A53T mutation. In separate subgroups these patients, further , LRRK 2, Parkin, PINK 1 DJ ‐1 genes were searched for....
Mutations in the m.13094T>C MT-ND5 gene have been previously described three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at time analysis (median age death was 10 years (range: 5·4 months−37 years, IQR = 17·9 years). Nine manifested with LS, one mitochondrial encephalomyopathy, lactic acidosis stroke-like episodes (MELAS), Leber...
The mechanisms behind the phenotypic variability and reduced penetrance in autosomal recessive Stargardt disease (STGD1), often a blinding disease, are poorly understood. Identification of unknown modifiers can improve patient family counseling provide valuable information for management.To assess association incompletely penetrant ABCA4 alleles with sex STGD1.Genetic data this cross-sectional study were obtained from 2 multicenter genetic studies 1162 patients clinically suspected STGD1....
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together U5 and ∼30 proteins, is part of U4/U6.U5 tri-snRNP complex, located at core major spliceosome. Recently, recurrent de novo variants in RNA, transcribed from RNU4-2 gene, least two other RNU genes were discovered to cause neurodevelopmental disorder. We detected inherited heterozygous (n.18_19insA n.56T>C) four out five RNU6 paralogues (n.55_56insG n.56_57insG) 135 individuals 62 families non-syndromic retinitis...
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region retina. To investigate basis iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% were considered genetically explained by 460 different variants 49 distinct 73 novel variants, some affecting splicing. The top five most frequent causative ABCA4 (37.2%), PRPH2 (6.7%), CDHR1...
In most Western populations, 5-10% of all breast cancer cases can be attributed to major genetic factors such as predisposing mutations in BRCA1 and BRCA2, with early-onset generally considered an indicator susceptibility. Specific BRCA2 or different mutation frequencies have been identified specific populations ethnic groups. Previous studies Greek and/or ovarian patients family history shown that four mutations, c.5266dupC, G1738R, two large genomic rearrangements involving deletions exons...
The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the adrenocortical carcinoma (ACC) patients 2.6 6%. In literature data only unilateral development ACCs reported. We report a 31 years-old female MEN1-patient, whom hyperplasia parathyroid glands, prolactinoma, non functioning pancreatic endocrine bilateral carcinomas were diagnosed. Interestingly, not previously described data, novel germline mutation (p.E45V) exon 2 gene, was detected....
Journal Article Dinucleotide repeat polymorphism at the DXS559 locus Get access P. Roustan, Roustan Search for other works by this author on: Oxford Academic PubMed Google Scholar A.R.J. Curtis, Curtis S. Kamakari, Kamakari 1Department of Molecular Genetics, Institute OprthalmologyBath Street, London EC1V 9EL, UK D. Thiselton, Thiselton Lindsay, Lindsay S.S. Bhattacharya * To whom correspondence should be addressed Human Volume 1, Issue 9, December 1992, Page 778,...
To present a case of two siblings with optic atrophy associated Wolfram Syndrome.Two young adult presented serious bilateral loss vision and dyschromatopsia established in early adolescence. They were referred presumed diagnosis Leber's Hereditary Optic Neuropathy. At baseline, visual acuity was 20/400 the right eye 20/200 left patient A both eyes B, color perception tested pseudo-isochromatic plates 0/17 each eye, discs pale, field testing revealed diffuse scotomas bilaterally while...
Summary Introduction Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disorder associated with mutations of the MEN1 gene and characterized by combined occurrence tumours parathyroid glands, pancreatic islet cells anterior pituitary. Aim To identify characterize clinical manifestations in Greek patients MEN1. Patients methods We studied four unrelated index MEN1, 17 relatives 100 control subjects. Among relatives, seven were clinically and/or biochemically...
To investigate the association between novel PAX6 mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, nystagmus.This is a retrospective observational case series in multi-center setting with genetic testing. Three female patients were diagnosed APyC, irides nystagmus. Genetic testing identified three had missense - c.128C > T; p.Ser43Phe (S43F), c. 197T A; p.Ile66Asn (I66N) c.781C G; p.Arg261Gly (R261G).This study demonstrates phenotype of...
Background: Activating germline mutations of the RET gene cause multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma (FMTC), conditions that are inherited in an autosomal dominant manner. In addition, somatic have been identified a variable proportion (about 30–70%) sporadic (nonfamilial) MTC cases. Methods: We describe Greek family with two novel likely pathogenic sequence variants gene. The first is C to T transition at position 2458 (c.2458C>T) causes arginine...