Scientific Commons: Peter Nürnberg

Although balancing selection with the sickle-cell trait and other red blood cell disorders has emphasized the interaction between malaria and human genetics, no systematic approach has so far been...

Identification of a candidate genetic variant for the high prevalence of type II diabetes in Polynesians (2007)

Myles, Sean, Hradetzky, Eva, Engelken, Johannes, Lao, Oskar, Nürnberg, Peter, Trent, Ronald J., ...

Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene (2007)

Budde, Birgit S., Binner, Priska, Waldmüller, Stephan, Höhne, Wolfgang, Blankenfeldt, Wulf, Hassfeld, Sabine, ...

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly (2006)

Garshasbi, Masoud, Motazacker, Mohammad Mahdi, Kahrizi, Kimia, Behjati, Farkhondeh, Abedini, Seyedeh Sedigheh, Nieh, Sahar Esmaeeli, ...

Very little is known about the molecular basis of autosomal recessive MR (ARMR) because in developed countries, small family sizes preclude mapping and identification of the relevant gene defects. We...

Association of ENPP1gene polymorphisms with hand osteoarthritis in a Chuvasha population (2005)

Suk, Eun-Kyung, Malkin, Ida, Dahm, Stefan, Kalichman, Leonid, Ruf, Nico, Kobyliansky, Eugene, ...

Abstract Periarticular calcification is a common attendant symptom of generalized arterial calcification of infancy, a rare Mendelian disorder caused by mutations of the gene coding for...

Male Reproductive Timing in Rhesus Macaques Is Influenced by the 5HTTLPR Promoter Polymorphism of the Serotonin Transporter Gene1 (2005)

Michael Krawczak, Andrea Trefilov, John Berard, Fred Bercovitch, Matthew Kessler, Ulrike Sauermann, ...

The 5HTTLPR polymorphism in the promoter region of the human serotonin transporter (SLC6A4) gene is known to be associated with various stress-related psychological and psychiatric phenomena. We...

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families (2005)

Altmüller, Janine, Seidel, Corinna, Lee, Young-Ae, Loesgen, Sabine, Bulle, Dieter, Friedrichs, Frank, ...

Abstract Background Asthma is a complex genetic disease with more than 20 genome-wide scans conducted so far. Regions on almost every chromosome have been linked to asthma and several genes have been...

Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population (2005)

Suk, Eun-Kyung, Malkin, Ida, Dahm, Stefan, Kalichman, Leonid, Ruf, Nico, Kobyliansky, Eugene, ...

Periarticular calcification is a common attendant symptom of generalized arterial calcification of infancy, a rare Mendelian disorder caused by mutations of the gene coding for ectonucleotide...

NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity (2005)

Wojnowski, Leszek, Kulle, Bettina, Schirmer, Markus, Schlüter, Gregor, Schmidt, Albrecht, Rosenberger, Albert, ...

Background: A significant number of patients treated with anthracyclines develop cardiotoxicity (anthracycline-induced cardiotoxicity [ACT]), mainly presenting as arrhythmias (acute ACT) or...

Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis (2004)

Robinson,Peter N., Böhme,Ulrike, Lopez,Rodrigo, Mundlos,Stefan, Nürnberg,Peter

A key open question in the understanding of the biology of DNA methylation relates to the origin and function of CpG islands, stretches of GC-rich and relatively CpG-rich DNA sequence that often...

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement (2004)

Thiele,Holger, Sakano,Masahiro, Kitagawa,Hiroshi, Sugahara,Kazuyuki, Rajab,Anna, Höhne,Wolfgang, ...

We studied two large consanguineous families from Oman with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). By using a genome-wide linkage approach, we were able to map the...

Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis (2004)

Robinson, Peter N., Böhme, Ulrike, Lopez, Rodrigo, Mundlos, Stefan, Nürnberg, Peter

A key open question in the understanding of the biology of DNA methylation relates to the origin and function of CpG islands, stretches of GC-rich and relatively CpG-rich DNA sequence that often...

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement (2004)

Thiele, Holger, Sakano, Masahiro, Kitagawa, Hiroshi, Sugahara, Kazuyuki, Rajab, Anna, Höhne, Wolfgang, ...

We studied two large consanguineous families from Oman with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). By using a genome-wide linkage approach, we were able to map the...

Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis (2002)

Uhlmann,Karen, Brinckmann,Anja, Toliat,Mohammad R., Ritter,Heide, Nürnberg,Peter

Tumorigenesis is characterized by alterations of methylation profiles including loss and gain of 5-methylcytosine. Recently, we identified a single CpG, which seemed to be consistently hypomethylated...

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy (2002)

Sander,Thomas, Toliat,Mohammad Reza, Heils,Armin, Leschik,Gundula, Becker,Christian, Rüschendorf,Franz, ...

Genetic factors play a major role in the etiology of idiopathic generalized epilepsies (IGE). Our recent genome-wide search revealed suggestive evidence for a susceptibility locus for common IGE...

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution (2002)

Otto,Edgar, Hoefele,Julia, Ruf,Rainer, Mueller,Adelheid M., Hiller,Karl S., Wolf,Matthias T. F., ...

Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The...

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution (2002)

Otto,Edgar, Hoefele,Julia, Ruf,Rainer, Mueller,Adelheid M., Hiller,Karl S., Wolf,Matthias T. F., ...

Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The...

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations (2002)

Cryns,Kim, Markus Pfister,Markus, Pennings,Ronald J. E., Bom,Steven J. H., Flothmann,Kris, Caethoven,Goele, ...

Hereditary hearing impairment is an extremely heterogeneous trait, with more than 70 identified loci. Only two of these loci are associated with an auditory phenotype that predominantly affects the...

Multiple sirehood in free-ranging twin rhesus macaques (Macaca mulatta) (2002)

Bercovitch,Fred B., Widdig,Anja, Berard,John D., Nürnberg,Peter, Kessler,Matt J., Schmidtke,Jörg, ...

Rhesus macaque females regularly copulate with a number of partners, and produce a single offspring per reproductive cycle in over 99% of cases. We used genotyping of 10 STR markers to determine...

Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36 (2002)

Schuermann,Maria J., Otto,Edgar, Becker,Achim, Saar,Katrin, Rüschendorf,Franz, Polak,Bettine C., ...

For nephronophthisis (NPHP), the primary genetic cause of chronic renal failure in young adults, three loci have been mapped. To identify a new locus for NPHP, we here report on total-genome linkage...

Failure to replicate an allelic association between an exon 8 polymorphism of the human 1A calcium channel gene and common syndromes of idiopathic generalized epilepsy (2002)

Sander,Thomas, Toliat,Mohammad R., Heils,Armin, Becker,Christian, Nürnberg,Peter

The present replication study tested the validity of a previously reported allelic association between a single nucleotide polymorphism in exon 8 (SNP8) of the gene encoding the 1A-calcium channel...

A comprehensive linkage analysis for myocardial infarction and its related risk factors (2002)

Broeckel,Ulrich, Hengstenberg,Christian, Mayer,Björn, Holmer,Stephan, Martin,Lisa J., Comuzzie,Anthony G., ...

Coronary artery disease and myocardial infarction (MI) are leading causes of death in the western world. Numerous studies have shown that risk factors such as diabetes mellitus, arterial hypertension...

Multiple sirehood in free-ranging twin rhesus macaques (Macaca mulatta) (2002)

Bercovitch, Fred B., Widdig, Anja, Berard, John D., Nürnberg, Peter, Kessler, Matt J., Schmidtke, Jörg, ...

Rhesus macaque females regularly copulate with a number of partners, and produce a single offspring per reproductive cycle in over 99% of cases. We used genotyping of 10 STR markers to determine...

A comprehensive linkage analysis for myocardial infarction and its related risk factors (2002)

Broeckel, Ulrich, Hengstenberg, Christian, Mayer, Björn, Holmer, Stephan, Martin, Lisa J., Comuzzie, Anthony G., ...

Coronary artery disease and myocardial infarction (MI) are leading causes of death in the western world. Numerous studies have shown that risk factors such as diabetes mellitus, arterial hypertension...

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations (2002)

Cryns, Kim, Markus Pfister, Markus, Pennings, Ronald J. E., Bom, Steven J. H., Flothmann, Kris, Caethoven, Goele, ...

Hereditary hearing impairment is an extremely heterogeneous trait, with more than 70 identified loci. Only two of these loci are associated with an auditory phenotype that predominantly affects the...

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution (2002)

Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T. F., ...

Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The...

Failure to replicate an allelic association between an exon 8 polymorphism of the human 1A calcium channel gene and common syndromes of idiopathic generalized epilepsy (2002)

Sander, Thomas, Toliat, Mohammad R., Heils, Armin, Becker, Christian, Nürnberg, Peter

The present replication study tested the validity of a previously reported allelic association between a single nucleotide polymorphism in exon 8 (SNP8) of the gene encoding the 1A-calcium channel...

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy (2002)

Sander, Thomas, Toliat, Mohammad Reza, Heils, Armin, Leschik, Gundula, Becker, Christian, Rüschendorf, Franz, ...

Genetic factors play a major role in the etiology of idiopathic generalized epilepsies (IGE). Our recent genome-wide search revealed suggestive evidence for a susceptibility locus for common IGE...

Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36 (2002)

Schuermann, Maria J., Otto, Edgar, Becker, Achim, Saar, Katrin, Rüschendorf, Franz, Polak, Bettine C., ...

For nephronophthisis (NPHP), the primary genetic cause of chronic renal failure in young adults, three loci have been mapped. To identify a new locus for NPHP, we here report on total-genome linkage...

Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis (2002)

Uhlmann, Karen, Brinckmann, Anja, Toliat, Mohammad R., Ritter, Heide, Nürnberg, Peter

Tumorigenesis is characterized by alterations of methylation profiles including loss and gain of 5-methylcytosine. Recently, we identified a single CpG, which seemed to be consistently hypomethylated...

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution (2002)

Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T. F., ...

Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The...

Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p (2001)

Hampe,Jochen, Frenzel,Henning, Mirza,Muddassar M., Croucher,Peter J. P., Cuthbert,Andrew, Mascheretti,Silvia, ...

Heritable predisposition to inflammatory bowel disease (IBD) has been demonstrated by epidemiological and genetic analysis. Linkage of IBD to broad regions of chromosome 16 has been established by...

Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p (2001)

Hampe, Jochen, Frenzel, Henning, Mirza, Muddassar M., Croucher, Peter J. P., Cuthbert, Andrew, Mascheretti, Silvia, ...

Heritable predisposition to inflammatory bowel disease (IBD) has been demonstrated by epidemiological and genetic analysis. Linkage of IBD to broad regions of chromosome 16 has been established by...

Widdig, Anja, Nürnberg, Peter, Krawczak, Michael, Streich, Wolf Jürgen, Bercovitch, Fred B.

Kin selection promotes the evolution of social behavior that increases the survival and reproductive success of close relatives. Among primates, maternal kinship frequently coincides with a higher...

Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p

Hampe, Jochen, Frenzel, Henning, Mirza, Muddassar M., Croucher, Peter J. P., Cuthbert, Andrew, Mascheretti, Silvia, ...

Heritable predisposition to inflammatory bowel disease (IBD) has been demonstrated by epidemiological and genetic analysis. Linkage of IBD to broad regions of chromosome 16 has been established by...

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, ...

Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the...

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Thiele, Holger, Sakano, Masahiro, Kitagawa, Hiroshi, Sugahara, Kazuyuki, Rajab, Anna, Höhne, Wolfgang, ...

We studied two large consanguineous families from Oman with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). By using a genome-wide linkage approach, we were able to map the...

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

Altmüller, Janine, Seidel, Corinna, Lee, Young-Ae, Loesgen, Sabine, Bulle, Dieter, Friedrichs, Frank, ...

Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

Uhlenberg, Birgit, Schuelke, Markus, Rüschendorf, Franz, Ruf, Nico, Kaindl, Angela M., Henneke, Marco, ...

The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher–like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In...

Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population

Suk, Eun-Kyung, Malkin, Ida, Dahm, Stefan, Kalichman, Leonid, Ruf, Nico, Kobyliansky, Eugene, ...

Periarticular calcification is a common attendant symptom of generalized arterial calcification of infancy, a rare Mendelian disorder caused by mutations of the gene coding for ectonucleotide...

Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain

Fahsold, Raimund, Hoffmeyer, Sven, Mischung, Claudia, Gille, Christoph, Ehlers, Christian, Kücükceylan, Nazan, ...

More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. For each patient, the whole coding sequence and all splice sites were studied for...

Genomewide Scan and Fine-Mapping Linkage Studies in Four European Samples with Bipolar Affective Disorder Suggest a New Susceptibility Locus on Chromosome 1p35-p36 and Provides Further Evidence of Loci on Chromosome 4q31 and 6q24

Schumacher, Johannes, Kaneva, Radka, Jamra, Rami Abou, Diaz, Guillermo Orozco, Ohlraun, Stephanie, Milanova, Vihra, ...

We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian...

Polymorphisms in the Genes Encoding Chemokine Receptor 5, Interleukin-10, and Monocyte Chemoattractant Protein 1 Contribute to Cytomegalovirus Reactivation and Disease after Allogeneic Stem Cell Transplantation

Loeffler, Juergen, Steffens, Michael, Arlt, Eva-Maria, Toliat, Mohammad-Reza, Mezger, Markus, Suk, Anita, ...

We analyzed 90 polymorphisms in 17 genes related to immune function for association with human cytomegalovirus (HCMV) reactivation and disease in patients after allogeneic stem cell transplantation....

Widdig, Anja, Nürnberg, Peter, Krawczak, Michael, Streich, Wolf Jürgen, Bercovitch, Fred B.

Kin selection promotes the evolution of social behavior that increases the survival and reproductive success of close relatives. Among primates, maternal kinship frequently coincides with a higher...

Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p

Hampe, Jochen, Frenzel, Henning, Mirza, Muddassar M., Croucher, Peter J. P., Cuthbert, Andrew, Mascheretti, Silvia, ...

Heritable predisposition to inflammatory bowel disease (IBD) has been demonstrated by epidemiological and genetic analysis. Linkage of IBD to broad regions of chromosome 16 has been established by...

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, ...

Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the...

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

Otto, Edgar, Hoefele, Julia, Ruf, Rainer, Mueller, Adelheid M., Hiller, Karl S., Wolf, Matthias T. F., ...

Nephronophthisis (NPHP) comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults. The...

Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36

Schuermann, Maria J., Otto, Edgar, Becker, Achim, Saar, Katrin, Rüschendorf, Franz, Polak, Bettine C., ...

For nephronophthisis (NPHP), the primary genetic cause of chronic renal failure in young adults, three loci have been mapped. To identify a new locus for NPHP, we here report on total-genome linkage...

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Thiele, Holger, Sakano, Masahiro, Kitagawa, Hiroshi, Sugahara, Kazuyuki, Rajab, Anna, Höhne, Wolfgang, ...

We studied two large consanguineous families from Oman with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). By using a genome-wide linkage approach, we were able to map the...

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families

Altmüller, Janine, Seidel, Corinna, Lee, Young-Ae, Loesgen, Sabine, Bulle, Dieter, Friedrichs, Frank, ...

Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

Donaudy, Francesca, Snoeckx, Rik, Pfister, Markus, Zenner, Hans-Peter, Blin, Nikolaus, Di Stazio, Mariateresa, ...

Myosins have been implicated in various motile processes, including organelle translocation, ion-channel gating, and cytoskeleton reorganization. Different members of the myosin superfamily are...

Mutations in the Gene Encoding Gap Junction Protein α12 (Connexin 46.6) Cause Pelizaeus-Merzbacher–Like Disease

Uhlenberg, Birgit, Schuelke, Markus, Rüschendorf, Franz, Ruf, Nico, Kaindl, Angela M., Henneke, Marco, ...

The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher–like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In...

Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population

Suk, Eun-Kyung, Malkin, Ida, Dahm, Stefan, Kalichman, Leonid, Ruf, Nico, Kobyliansky, Eugene, ...

Periarticular calcification is a common attendant symptom of generalized arterial calcification of infancy, a rare Mendelian disorder caused by mutations of the gene coding for ectonucleotide...

Genomewide Scan and Fine-Mapping Linkage Studies in Four European Samples with Bipolar Affective Disorder Suggest a New Susceptibility Locus on Chromosome 1p35-p36 and Provides Further Evidence of Loci on Chromosome 4q31 and 6q24

Schumacher, Johannes, Kaneva, Radka, Jamra, Rami Abou, Diaz, Guillermo Orozco, Ohlraun, Stephanie, Milanova, Vihra, ...

We present the findings of a large linkage study of bipolar affective disorder (BPAD) that involved genomewide analysis of 52 families (448 genotyped individuals) of Spanish, Romany, and Bulgarian...

Minor Lesion Mutational Spectrum of the Entire NF1 Gene Does Not Explain Its High Mutability but Points to a Functional Domain Upstream of the GAP-Related Domain

Fahsold, Raimund, Hoffmeyer, Sven, Mischung, Claudia, Gille, Christoph, Ehlers, Christian, Kücükceylan, Nazan, ...

More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. For each patient, the whole coding sequence and all splice sites were studied for...

Polymorphisms in the Genes Encoding Chemokine Receptor 5, Interleukin-10, and Monocyte Chemoattractant Protein 1 Contribute to Cytomegalovirus Reactivation and Disease after Allogeneic Stem Cell Transplantation

Peter Nürnberg

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