André Reis
A5082130600- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Psoriasis: Treatment and Pathogenesis
- Skin and Cellular Biology Research
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Glaucoma and retinal disorders
- Congenital heart defects research
- RNA Research and Splicing
- Asthma and respiratory diseases
- Pulmonary Hypertension Research and Treatments
- DNA Repair Mechanisms
- Genomics and Chromatin Dynamics
- Ubiquitin and proteasome pathways
- Genetic Syndromes and Imprinting
- Chromatin Remodeling and Cancer
- Renal Diseases and Glomerulopathies
- Genetic and Kidney Cyst Diseases
- Immunodeficiency and Autoimmune Disorders
- Epigenetics and DNA Methylation
- RNA regulation and disease
- Cystic Fibrosis Research Advances
- Blood disorders and treatments
- Congenital Heart Disease Studies
Universitätsklinikum Erlangen
2016-2025
Friedrich-Alexander-Universität Erlangen-Nürnberg
2015-2024
Universidade Federal do Piauí
2024
Comprehensive Cancer Center Erlangen
2019-2024
Charité - Universitätsmedizin Berlin
1994-2023
RWTH Aachen University
2023
Rush University Medical Center
2023
Medizinische Hochschule Hannover
2023
Jena University Hospital
2023
Innsbruck Medical University
2023
Nature Communications 6: Article number: 6046 (2015); Published 5 February 2015; Updated 6 July 2015 The affiliation details for Emiliano Giardina are incorrect in this Article. correct address author is given below: Department of Biopathology, Centre Excellence Genomic Risk Assessment Multifactorial and Complex Diseases, School Medicine, University Rome 'Tor Vergata' Laboratory Molecular Genetics UILDM, Fondazione Santa Lucia, 00179, Italy.
Congenital nephrotic syndrome (CNS) is clinically and genetically heterogeneous, with mutations in WT1, NPHS1 NPHS2 accounting for part of cases. We recently delineated a new autosomal recessive entity comprising CNS diffuse mesangial sclerosis distinct ocular anomalies microcoria as the leading clinical feature (Pierson syndrome). On basis homozygosity mapping to markers on chromosome 3p14-p22, we identified homozygous or compound heterozygous LAMB2 patients from five unrelated families....
The underlying cause of mental retardation remains unknown in up to 80% patients. As chromosomal aberrations are the most common known retardation, several new methods based on FISH, PCR, and array techniques have been developed over recent years increase detection rate subtle aneusomies initially gene rich subtelomeric regions, but nowadays also genome wide. reported rates vary widely between different reports order compare diagnostic yield various investigations, we analyzed conventional...
Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) 25 patients. Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to 3-month-old baby, but are near-normal...
Neurodegenerative diseases can occur so early as to affect neurodevelopment. From a cohort of more than 2,000 consanguineous families with childhood neurological disease, we identified founder mutation in four independent pedigrees cleavage and polyadenylation factor I subunit 1 (CLP1). CLP1 is multifunctional kinase implicated tRNA, mRNA, siRNA maturation. Kinase activity the mutant protein was defective, tRNA endonuclease complex (TSEN) destabilized, resulting impaired pre-tRNA cleavage....
<h3>Importance</h3> Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes still unknown. <h3>Objectives</h3> To promote identification through confirmation previously described presentation novel candidates provide an overview diagnostic yield exome sequencing in consanguineous families. <h3>Design, Setting, Participants</h3> Autozygosity mapping families index patients were performed 152 (the parents descended from...
Significance α-Synuclein (α-Syn) aggregation underlies neurodegeneration in synucleinopathies. However, the nature of α-Syn aggregates and their toxic mechanisms human pathology remains elusive. Here, we delineate a role oligomeric for axonal integrity neuronal models oligomers disrupt anterograde transport mitochondria by causing subcellular changes transport-regulating proteins energy deficits. An increase neurons finally results synaptic degeneration. Together, our data provide...