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Genomes and Genes | C BergmannSummaryAffiliation: University Hospital Country: Germany Publications
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Publications
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathyJan Senderek
Department of Human Genetics, Aachen University of Technology, Aachen, Germany
Nat Genet 37:1312-4. 2005..Identification of SIL1 mutations implicates Marinesco-Sjögren syndrome as a disease of endoplasmic reticulum dysfunction and suggests a role for this organelle in multisystem disorders...- PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann
Department of Human Genetics, Aachen University, Aachen, Germany
Hum Mutat 23:487-95. 2004..PKHD1 mutation analysis has proven to be an efficient and effective means to establish the diagnosis of ARPKD... - Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)C Bergmann
Department of Human Genetics, Aachen University, Germany
J Med Genet 42:e63. 2005..So far, only micromutations in the 66 exons encoding the longest open reading frame (ORF) have been described, and account for about 80% of mutations... - Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)Carsten Bergmann
Department of Human Genetics, Aachen University, Aachen, Germany
Kidney Int 67:829-48. 2005..Most cases manifest peri-/neonatally with a high mortality rate in the first month of life while the clinical spectrum of surviving patients is much more variable than generally perceived... - Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasiaCarsten Bergmann
Department of Human Genetics, Aachen University, Pauwelsstrasse 30, D 52074 Aachen, Germany
Brain 126:1537-44. 2003..Our findings, however, indicate that OPHN1 mutations result in a recognizable syndrome. In addition, identification of OPHN1 as a further gene associated with epileptic seizures will help to unravel aetiologic factors of epilepsy... - Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann
Department of Human Genetics, Aachen University, Aachen, Germany
Hum Mutat 25:225-31. 2005..The current study provides an essential platform for PKHD1 mutation screening in a routine setting that will largely alleviate molecular genetic diagnostics in patients suspected to have ARPKD... - Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney diseaseCarsten Bergmann
Department of Human Genetics, Aachen University, Pauwelsstrasse 30, 52074, Aachen, Germany
J Hum Genet 51:788-93. 2006..To the best of our knowledge, this is the first study that defines the consequences of a PKHD1 splice mutation and underlines the relevance of functional analyses in determining the pathogenicity of changes of unknown significance... - Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)Carsten Bergmann
Institute of Human Genetics, Aachen University, Aachen, Germany
J Am Soc Nephrol 14:76-89. 2003..Direct identification of mutations allows an unequivocal diagnosis and accurate genetic counseling even in families displaying diagnostic challenges... - Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychiaC Bergmann
Department of Human Genetics, Aachen University, Aachen, Germany
Am J Hum Genet 79:1105-9. 2006..To the best of our knowledge, this is the first gene known to be responsible for an isolated, nonsyndromic nail disorder... - Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX)C Bergmann
, , Germany
J Med Genet 39:e58. 2002 - PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)Carsten Bergmann
Department of Human Genetics, Aachen University, Aachen, Germany
Hum Mutat 23:453-63. 2004..A constantly updated list of mutations is available online (www.humgen.rwth-aachen.de) and investigators are invited to submit their novel data to this PKHD1 mutation database... - Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaCarsten Bergmann
Department of Human Genetics, RWTH Aachen University, 52074 Aachen, Germany
Am J Hum Genet 82:959-70. 2008.... - Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)Carsten Bergmann
Institute of Human Genetics, Aachen University of Technology, Germany
Am J Med Genet A 121:151-5. 2003..The present case was instructive to review the continuous spectrum of AMDC related anomalies... - New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 geneK Zerres
Institute for Human Genetics, Aachen University of Technology, Aachen, Germany
Clin Genet 66:53-7. 2004..We for the first time report two cases with PD based on mutation detection, illustrating the new options for PD in ARPKD... - Phenotypic variation of a novel nonsense mutation in the P0 intracellular domainJ Senderek
, , Pauwelsstrasse 30, D-52974 Aachen, Germany
J Neurol Sci 192:49-51. 2001.... - Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndromeValeska Frank
Department of Human Genetics, RWTH Aachen University, Aachen, Germany
Hum Mutat 28:638-9. 2007..Overall, our data have immediate implications for genetic counselling and testing approaches in MKS... - A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopaV T Ramaekers
Division of Paediatric Neurology, Department of Pediatrics, University Hospital Aachen, 52074 Aachen, Germany
Mol Genet Metab 73:179-87. 2001.... - A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in GermanyC Bergmann
Institut fur Humangenetik, Universitätsklinikum der RWTH Aachen, Pauwelsstrasse 30, D 52074 Aachen, Germany
Brain Res Mol Brain Res 88:183-5. 2001..These divergent results are important for genetic counselling and require careful consideration of ethnic backgrounds and of diagnostic and experimental pitfalls... - Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndromeValeska Frank
Department of Human Genetics, RWTH Aachen University, Aachen, Germany
Hum Mutat 29:45-52. 2008..Conclusively, other factors than the type and location of CEP290 mutations may underlie phenotypic variability... - Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathyJan Senderek
Department of Human Genetics, Aachen University of Technology, Aachen, Germany
Am J Hum Genet 73:1106-19. 2003..Comparative sequence alignments indicate that members of this protein family contain multiple SH3 and TPR domains that are likely involved in the formation of protein complexes... - Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15Jan Senderek
Department of Human Genetics, Aachen University of Technology, Aachen, Germany
Hum Mol Genet 12:349-56. 2003.... - Autosomal recessive polycystic kidney disease (ARPKD)Klaus Zerres
Institute for Human Genetics, Aachen University of Technology, Aachen, Germany
J Nephrol 16:453-8. 2003..Diagnostic criteria, clinical course, differential diagnoses, genetics and molecular biology will be discussed along with the advantages and limitations of mutation detection in clinical practice... - Diagnosis, pathogenesis, and treatment prospects in cystic kidney diseaseCarsten Bergmann
Department of Human Genetics, Aachen University, Aachen, Germany
Mol Diagn Ther 10:163-74. 2006.... - Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathyJan Senderek
Department of Human Genetics, Aachen University of Technology, Germany
Brain 126:642-9. 2003..These findings fitted the definition of intermediate type CMT and further support the view that GDAP1 is vital for both, axonal integrity and Schwann cell properties... - RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4Nadina Ortiz Brüchle
Department of Human Genetics, RWTH Aachen University, Aachen, Germany
J Invest Dermatol 128:791-6. 2008.... - Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice
Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
Am J Hum Genet 81:713-25. 2007..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified... - Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant proteinKatrien Janssens
Department of Medical Genetics, University of Antwerp, 2610 Antwerp, Belgium
J Biol Chem 278:7718-24. 2003..Our data indicate that the mutations in the signal peptide and latency-associated peptide facilitate TGF-beta1 signaling, thus causing Camurati-Engelmann disease... - Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2Jutta Kirfel
Institute of Pathology, University of Bonn, Bonn, Germany
Gene Expr Patterns 6:978-84. 2006..Taken together, this study provides information about the mRNA expression and subcellular localization of Sbf2 and as such helps in further understanding its function in development and disease... - Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutationMartina Prelog
Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria
Pediatr Transplant 10:362-6. 2006..In conclusion, the present case clearly demonstrates the favorable outcome of a child with severe ARPKD after bilateral nephrectomy, pre-emptive dialysis, and successful transplantation... - Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD geneYasuyuki Nagasawa
Department of Medicine and Genetics, Johns Hopkins University, Baltimore, Maryland 21205, USA
J Am Soc Nephrol 13:2246-58. 2002..These data show that key features of human PKHD1 are highly conserved in the mouse and suggest that the complicated pattern of splicing is likely to be functionally important... - 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 repeatsLuiz F Onuchic
Department of Medicine, Johns Hopkins University, Baltimore, MD, USA
Am J Hum Genet 70:1305-17. 2002.... - Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndromeHester Y Kroes
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
Am J Med Genet A 135:297-301. 2005..Differentiation of the two disorders is especially important in genetic counseling, where artificial donor insemination may be considered as a means of reducing the recurrence risk, or when female relatives of the patient are concerned... - Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the ratPamela J Kaisaki
The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, United Kingdom
Eur J Med Genet 51:325-31. 2008..These variants are unlikely to account for PKD in these patients, yet the screening of other affected populations may provide information about the involvement of PKDR1 as a modifier gene in cystic kidney disease... - Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutationC Oliver Hanemann
Department of Neurology, University of Ulm, Ulm, Germany
Arch Neurol 60:605-9. 2003..This is of potential interest, as Cx32 is widely expressed in both peripheral nerve and the brain... - Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutationsLaszlo Furu
Departments of Internal Medicine and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA
J Am Soc Nephrol 14:2004-14. 2003..The nature of the germline mutations in ARPKD plays a significant role in determining clinical outcome... - Early manifestations of polycystic kidney diseaseCarsten Bergmann
Lancet 369:2157. 2007 - Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4Claudia Stendel
Institute of Cell Biology, ETH Zurich, Schafmattstrasse 18, CH 8093 Zurich, Switzerland
Am J Hum Genet 81:158-64. 2007..These data, together with the ability of frabin to induce Cdc42-mediated cell-shape changes in transfected Schwann cells, suggest that Rho GTPase signaling is essential for proper myelination of the peripheral nervous system... - Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate geneLuiz F Onuchic
Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA
Am J Med Genet 110:346-52. 2002..This further refinement of the PKHD1 interval will facilitate efforts to identify the PKHD1 gene by positional cloning. These data also provide additional, highly polymorphic markers for haplotype-based diagnostic testing for ARPKD... - Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformationsBeate Karges
Department of Pediatric Endocrinology and Diabetes, University Children's Hospital, University of Ulm, Ulm, Germany
Diabetes Care 30:1613-4. 2007 - Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literatureKatja Eggermann
Am J Med Genet A 134:226-8. 2005 - A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)Markus Moser
Max Planck Institute of Biochemistry, Martinsried, Germany
Hepatology 41:1113-21. 2005..The role of polyductin in liver and kidney may be functionally divergent, because protein domains essential for bile duct development do not affect nephrogenesis in our mouse model... - Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutationCarsten Bergmann
N Engl J Med 359:318-9. 2008