C Bergmann

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. ncbi Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Nat Genet 37:1312-4. 2005
  2. ncbi 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
  3. pmc 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Pauwelsstrasse 30, 52074, Aachen, Germany
    J Hum Genet 51:788-93. 2006
  9. ncbi Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Pauwelsstrasse 30, D 52074 Aachen, Germany
    Brain 126:1537-44. 2003
  10. pmc Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia
    C Bergmann
    Department of Human Genetics, Aachen University, Aachen, Germany
    Am J Hum Genet 79:1105-9. 2006

Detail Information

Publications45

  1. ncbi Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
    Jan 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...
  2. ncbi 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...
  3. pmc 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...
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease
    Carsten 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...
  9. ncbi Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
    Carsten 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...
  10. pmc Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia
    C 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...
  11. pmc 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
    Institut fur Humangenetik, Universitätsklinikum der RWTH Aachen, Germany
    J Med Genet 39:e58. 2002
  12. ncbi 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...
  13. pmc Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
    Carsten Bergmann
    Department of Human Genetics, RWTH Aachen University, 52074 Aachen, Germany
    Am J Hum Genet 82:959-70. 2008
    ....
  14. ncbi New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene
    K 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...
  15. ncbi Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome
    Valeska 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...
  16. ncbi Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain
    J Senderek
    , , Pauwelsstrasse 30, D-52974 Aachen, Germany
    J Neurol Sci 192:49-51. 2001
    ....
  17. ncbi A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa
    V T Ramaekers
    Division of Paediatric Neurology, Department of Pediatrics, University Hospital Aachen, 52074 Aachen, Germany
    Mol Genet Metab 73:179-87. 2001
    ....
  18. ncbi A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany
    C 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...
  19. doi Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia
    K Brakensiek
    Institut fur Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany
    Clin Genet 74:171-7. 2008
    ..4%. We conclude that molecular genetic testing of HHT patients is important for prognosis with respect to liver disease...
  20. ncbi Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
    Valeska 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...
  21. pmc Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
    Jan 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...
  22. ncbi 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...
  23. ncbi Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Hum Mol Genet 12:349-56. 2003
    ....
  24. ncbi Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease
    Carsten Bergmann
    Department of Human Genetics, Aachen University, Aachen, Germany
    Mol Diagn Ther 10:163-74. 2006
    ....
  25. doi Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8
    T Schmidt
    Institute of Human Genetics, University of Gottingen, Gottingen, Germany
    Cytogenet Genome Res 142:1-6. 2014
    ....
  26. ncbi Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
    Jan 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...
  27. ncbi 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 4
    Nadina Ortiz Brüchle
    Department of Human Genetics, RWTH Aachen University, Aachen, Germany
    J Invest Dermatol 128:791-6. 2008
    ....
  28. pmc 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
    Luiz F Onuchic
    Department of Medicine, Johns Hopkins University, Baltimore, MD, USA
    Am J Hum Genet 70:1305-17. 2002
    ....
  29. doi Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat
    Pamela 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...
  30. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian 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...
  31. ncbi Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein
    Katrien 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...
  32. ncbi Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene
    Yasuyuki 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...
  33. ncbi Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation
    C 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...
  34. ncbi Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation
    Martina 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...
  35. ncbi Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
    Laszlo 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...
  36. ncbi Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome
    Hester 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...
  37. ncbi Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2
    Jutta 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...
  38. doi Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation
    Carsten Bergmann
    N Engl J Med 359:318-9. 2008
  39. ncbi X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable disorder associated with early degenerative joint disease
    Jörg Fiedler
    University of Ulm, Department of Orthopedics, Division for Biochemistry of Joint and Connective Tissue Disorders, RKU, Oberer Eselsberg 45, DE 89081 Ulm, Germany
    Acta Orthop Scand 74:737-41. 2003
    ..SEDT should be kept in mind as a differential diagnosis in men with early "primary" bilateral osteoarthrosis...
  40. ncbi Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene
    Luiz 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...
  41. ncbi Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations
    Beate Karges
    Department of Pediatric Endocrinology and Diabetes, University Children s Hospital, University of Ulm, Ulm, Germany
    Diabetes Care 30:1613-4. 2007
  42. ncbi Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22): New case and comparison with the literature
    Katja Eggermann
    Am J Med Genet A 134:226-8. 2005
  43. ncbi Early manifestations of polycystic kidney disease
    Carsten Bergmann
    Lancet 369:2157. 2007
  44. pmc Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
    Claudia 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...
  45. ncbi 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...