Klaus Zerres

Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects (2009)

Jansen, Andreas, Krach, Sören, Krug, Axel, Markov, Valentin, Eggermann, Thomas, Zerres, Klaus, ...

Abstract 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...

No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients (2009)

Malycha, Friederike, Eggermann, Thomas, Hristov, Mihail, Schena, Francesco Paolo, Mertens, Peter R., Zerres, Klaus, ...

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...

Sequence variations in subjects with self-reported multiple chemical sensitivity (sMICS) : a case-control study (2008)

Wiesmüller, Gerhard A., Niggemann, Hiltrud, Weissbach, Wibke, Riley, Felix, Maarouf, Zackaria, Dott, Wolfgang, ...

Nephrectomy in an autosomal recessive polycystic kidney disease (ARPKD) patient with rapid kidney enlargement and increased expression of EGFR (2008)

Arbeiter, Anja, Büscher, Rainer, Bonzel, Klaus-Eugen, Wingen, Anne-Margret, Vester, Udo, Wohlschläger, Jeremias, ...

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria (2007)

Schröder, Rolf, Goudeau, Bertrand, Simon, Monique Casteras, Fischer, Dirk, Eggermann, Thomas, Clemen, Christoph S., ...

The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait (2005)

Schena, Francesco P, Cerullo, Giuseppina, Torres, Diletta D, Scolari, Francesco, Foramitti, Marina, Amoroso, Antonio, ...

Abstract Background IgA nephropathy (IgAN) or Berger's disease, is the most common glomerulonephritis in the world diagnosed in renal biopsied patients. The involvement of genetic factors in the...

The amount of calcium-deficient hexagonal hydroxyapatite in aortic valves is influenced by gender and associated with genetic polymorphisms in patients with severe calcific aortic stenosis (2004)

Ortlepp, Jan R, Schmitz, Fabian, Mevissen, Vera, Weiß, Stefan, Huster, Jürgen, Dronskowski, Richard, ...

Aims The study evaluated the relationship between cardiovascular risk factors (CRF), gene polymorphism, calcification and fibrosis of stenotic aortic valves. Methods and results The calcium content...

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15 (2004)

Senderek, Jan, Bergmann, Carsten, Weber, Susanne, Ketelsen, Uwe-Peter, Schorle, Hubert, Rudnik-Schöneborn, Sabine, ...

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15 (2003)

Senderek, Jan, Bergmann, Carsten, Weber, Susanne, Ketelsen, Uwe-Peter, Schorle, Hubert, Rudnik-Schöneborn, Sabine, ...

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...

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia (2003)

Bergmann, Carsten, Zerres, Klaus, Senderek, Jan, Rudnik-Schöneborn, Sabine, Eggermann, Thomas, Häusler, Martin, ...

We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype...

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy (2003)

Senderek, Jan, Bergmann, Carsten, Ramaekers, Vincent T., Nelis, Eva, Bernert, Günther, Makowski, Astrid, ...

Mutations in the gene for the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) on 8q21 recently were reported to cause autosomal recessive Charcot–Marie–Tooth (CMT)...

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria (2003)

Schröder, Rolf, Goudeau, Bertrand, Simon, Monique Casteras, Fischer, Dirk, Eggermann, Thomas, Clemen, Christoph S., ...

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...

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia (2003)

Bergmann, Carsten, Zerres, Klaus, Senderek, Jan, Rudnik-Schöneborn, Sabine, Eggermann, Thomas, Häusler, Martin, ...

We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype...

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia (2003)

Bergmann, Carsten, Zerres, Klaus, Senderek, Jan, Rudnik-Schöneborn, Sabine, Eggermann, Thomas, Häusler, Martin, ...

We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype...

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. (2002)

Onuchic, Luiz F., Furu, Laszlo, Nagasawa, Yasuyuki, Hou, Xiaoying, Eggermann, Thomas, Ren, Zhiyong, ...

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and that is characterized by enlarged kidneys and...

Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta (1997)

Moser, Markus, Pscherer, Armin, Roth, Christina, Becker, Jutta, Mücher, Gabi, Zerres, Klaus, ...

Autosomal recessive polycystic kidney disease (1996)

Zerres, Klaus, Rudnik-Schöneborn, Sabine, Steinkamm, Carsten, Mücher, Gabi

Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood. With increasing knowledge and improving diagnostic...

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals (1995)

Hahnen, Eric, Forkert, Randolf, Marke, Christine, Rudnik-Schöneborn, Sabine, Schönling, Jutta, Zerres, Klaus, ...

Proximal spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of anterior horn cells in the spinal cord leading to weakness and wasting...

Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2β

Moser, Markus, Pscherer, Armin, Roth, Christina, Becker, Jutta, Mücher, Gabi, Zerres, Klaus, ...

Expression of AP-2 transcription factors has been detected previously in embryonic renal tissues. We show here that AP-2β −/− mice complete embryonic development and die at postnatal days 1 and...

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

Grohmann, Katja, Wienker, Thomas F., Saar, Kathrin, Rudnik-Schöneborn, Sabine, Stoltenburg-Didinger, Gisela, Rossi, Rainer, ...

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

Schena, Francesco P, Cerullo, Giuseppina, Torres, Diletta D, Scolari, Francesco, Foramitti, Marina, Amoroso, Antonio, ...

Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2β

Moser, Markus, Pscherer, Armin, Roth, Christina, Becker, Jutta, Mücher, Gabi, Zerres, Klaus, ...

Expression of AP-2 transcription factors has been detected previously in embryonic renal tissues. We show here that AP-2β −/− mice complete embryonic development and die at postnatal days 1 and...

PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

Onuchic, Luiz F., Furu, Laszlo, Nagasawa, Yasuyuki, Hou, Xiaoying, Eggermann, Thomas, Ren, Zhiyong, ...

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and that is characterized by enlarged kidneys and...

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Senderek, Jan, Bergmann, Carsten, Stendel, Claudia, Kirfel, Jutta, Verpoorten, Nathalie, De Jonghe, Peter, ...

Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell...

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

Grohmann, Katja, Wienker, Thomas F., Saar, Kathrin, Rudnik-Schöneborn, Sabine, Stoltenburg-Didinger, Gisela, Rossi, Rainer, ...

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

Schena, Francesco P, Cerullo, Giuseppina, Torres, Diletta D, Scolari, Francesco, Foramitti, Marina, Amoroso, Antonio, ...

Association between Ag1-CA Alleles and Severity of Autosomal Recessive Proximal Spinal Muscular Atrophy

DiDonato, Christine J., Morgan, Kenneth, Carpten, John D., Fuerst, Paul, Ingraham, Susan E., Prescott, Gary, ...

The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has been mapped to an 850-kb interval on 5q11.2-q13.3, between the centromeric D5S823 and telomeric D5S557 markers. We report a...

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Bergmann, Carsten, Fliegauf, Manfred, Brüchle, Nadina Ortiz, Frank, Valeska, Olbrich, Heike, Kirschner, Jan, ...

Many genetic diseases have been linked to the dysfunction of primary cilia, which occur nearly ubiquitously in the body and act as solitary cellular mechanosensory organelles. The list of clinical...

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Senderek, Jan, Garvey, Sean M., Krieger, Michael, Guergueltcheva, Velina, Urtizberea, Andoni, Roos, Andreas, ...

Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders. One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia...

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

Jansen, Andreas, Krach, Sören, Krug, Axel, Markov, Valentin, Eggermann, Thomas, Zerres, Klaus, ...