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Spinale Muskelatrophien

Der progrediente Untergang von Vorderhornzellen im Rückenmark und z. T. motorischen Hirnnervenkernen charakterisiert die spinalen Muskelatrophien (SMA). Die autosomal-rezessive proximale SMA im Kindes- und Jugendalter (SMA 5q) ist mit ca. 80–90 % die häufigste Form; sie wird je nach Schweregrad in die Typen I–III (IV) eingeteilt. Hierbei weisen >90 % der Patienten eine homozygote...


, Uniklinik Aachen, Aachen , Deutschland 3 Biozentrum Universität Würzburg , Würzburg , Deutschland Prof. Dr. Klaus Zerres Vorsitzender der GfH - Neue Verfahren der genetischen Diagnostik finden heute oft

Cystinuria: an inborn cause of urolithiasis

Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones. Among the heterogeneous group of kidney stone diseases, cystinuria is the only disorder which is exclusively caused by gene mutations. So far, two genes responsible for cystinuria have been identified: SLC3A1 (chromosome 2p21...

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing

In order to assess the feasibility of amplicon-based parallel next generation sequencing (NGS) for the diagnosis of myeloproliferative neoplasms (MPN), we investigated multiplex-PCR of 212 amplicons covering genomic mutational hotspots in 48 cancer-related genes. Samples from 64 patients with MPN and five controls as well as seven (myeloid) cell lines were analyzed. Healthy donor...

Rationale, design and objectives of ARegPKD, a European ARPKD registry study

Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare but frequently severe disorder that is typically characterized by cystic kidneys and congenital hepatic fibrosis but displays pronounced phenotypic heterogeneity. ARPKD is among the most important causes for pediatric end stage renal disease and a leading reason for liver-, kidney- or combined liver kidney...

No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients

Background. Altered IgA1 galactosylation is involved in the pathogenesis of IgA nephropathy (IgAN). The galactosyltransferase core-1 beta3-galactosyltransferase-1 (C1GALT1) and its chaperone cosmc are specifically required for O-galactosylation of the IgA1 hinge region. Mutations in the cosmc gene result in a secondary loss of function of C1GALT1 with subsequent...

Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects

Background In the last years, several susceptibility genes for psychiatric disorders have been identified, among others G72 (also named D-amino acid oxidase activator, DAOA). Typically, the high-risk variant of a vulnerability gene is associated with decreased cognitive functions already in healthy individuals. In a recent study however, a positive effect of the high-risk variant...

The effects of a DTNBP1 gene variant on attention networks: an fMRI study

Andreas Jansen 1 4 Klaus Zerres 4 7 Thomas Eggermann 4 7 Tony Stcker 4 6 N Jon Shah 4 6 Markus M Nthen 4 5 9 Marcella Rietschel 4 8 Tilo Kircher 2 4 0 Department of Psychiatry and Psychotherapy, RWTH Aachen

Digenic Inheritance of Hepatocyte Nuclear Factor-1α and -1β With Maturity-Onset Diabetes of the Young, Polycystic Thyroid, and Urogenital Malformations


Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany

Background As we emerge into the genomic medicine era, the epidemiology of diseases is taken for granted. Accurate prevalence figures, especially of rare diseases (RDs, ≤50/100 000), will become even more important for purposes of health care and societal planning. We noticed that the numbers of affected individuals in regionally established registries for mainly hereditary RDs...

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

Jan Senderek Carsten Bergmann Susanne Weber Uwe-Peter Ketelsen Hubert Schorle Sabine Rudnik-Scho neborn Reinhard Bu ttner Eckhard Buchheim Klaus Zerres

Autosomal recessive polycystic kidney disease

and differential diagnosis of ARPKD are presented. Correspondence and offprint requests to: Prof. Dr. med. Klaus Zerres, Institut fur Humangenetik der Universitat Bonn, WilhelmstraBe 31, D-53111 Bonn

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

Autosomal recessive hereditary motor and sensory neuropathy or Charcot–Marie–Tooth disease (CMT) is a severe childhood-onset neuromuscular disorder. Autosomal recessive CMT is genetically heterogeneous with one locus mapped to chromosome 11p15 (CMT4B2). The histopathological hallmarks of CMT4B2 are focal outfoldings of myelin in nerve biopsies. Homozygosity mapping, in a Turkish...

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

Rolf Schro der Bertrand Goudeau Monique Casteras Simon Dirk Fischer Thomas Eggermann Christoph S. Clemen Zhenlin Li Jens Reimann Zhigang Xue Sabine Rudnik-Scho neborn Klaus Zerres Peter F. M. van der

Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a frequent autosomal recessive neurodegenerative disorder leading to weakness and atrophy of voluntary muscles. The survival motor neuron gene (SMN) is a strong candidate for SMA and present in two highly homologous copies (telSMN and cenSMN) within the SMA region (5q11.2–q13.3). More than 90% of SMA patients show homozygous deletions of at least...

The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait

1 Marina Foramitti 1 Antonio Amoroso 0 Doroti Pirulli 7 Jürgen Floege 6 Peter R Mertens 6 Klaus Zerres 5 Efstathios Alexopoulos 4 Dimitrios Kirmizis 4 Leopoldo Zelante 9 Luigi Bisceglia 9 Gian

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria

Recent studies in desmin (−/−) mice have shown that the targeted ablation of desmin leads to pathological changes of the extrasarcomeric intermediate filament cytoskeleton, as well as structural and functional abnormalities of mitochondria in striated muscle. Here, we report on a novel heterozygous single adenine insertion mutation (c.5141_5143insA) in a 40-year-old patient with...

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Mayerle Markus M Lerch Andreas Tagariello Klaus Zerres Peter R Durie Matthias Beier Georg Hülskamp Celina Guzman Helga Rehder Frits A Beemer Ben Hamel Philippe Vanlieferinghen Ruth Gershoni-Baruch Marta W