Jan Senderek

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. ncbi request reprint 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 request reprint 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
  3. 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
  4. ncbi request reprint 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 request reprint 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
  6. ncbi request reprint 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
  7. ncbi request reprint 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
  8. ncbi request reprint 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
  9. ncbi request reprint 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
  10. ncbi request reprint 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

Detail Information

Publications26

  1. ncbi request reprint 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 request reprint 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
    ....
  3. 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...
  4. ncbi request reprint 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 request reprint 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...
  6. ncbi request reprint 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...
  7. ncbi request reprint 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...
  8. ncbi request reprint 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...
  9. ncbi request reprint 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...
  10. ncbi request reprint 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
    ....
  11. pmc Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings
    Miriam Elbracht
    Institute of Human Genetics, University Hospital Aachen, Aachen, Germany
    J Med Genet 44:e81. 2007
    ..Although TMPRSS3 mutations are supposed to be a rare cause of autosomal recessive hearing loss, in families with postlingual disease onset TMPRSS3 is the most favourable candidate gene after exclusion of GJB2 mutations...
  12. ncbi request reprint 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...
  13. ncbi request reprint 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...
  14. ncbi request reprint 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...
  15. ncbi request reprint 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...
  16. doi request reprint Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation
    Sabine Rudnik-Schoneborn
    Medical Faculty, Institute of Human Genetics, RWTH Aachen University, Aachen, Germany
    Am J Med Genet A 152:1540-4. 2010
    ..Cys232Trp, in the NOG gene. While not yet described in human NOG-related disorders, there is experimental evidence that suppression of noggin might accelerate osteogenesis, which could explain the phenotype in the family reported here...
  17. 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
    ....
  18. ncbi request reprint 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...
  19. ncbi request reprint 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
    ....
  20. doi request reprint A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant
    Andreas Roos
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Am J Med Genet A 146:2417-20. 2008
    ..Both cases indicate that this 13q21 deletion can be added to the growing list of euchromatic imbalances without obvious phenotypic abnormalities...
  21. ncbi request reprint 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...
  22. ncbi request reprint Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy
    Sabine Rudnik-Schoneborn
    Institute for Human Genetics, RWTH Aachen University, Pauwelsstr 30, 52074 Aachen, Germany
    Neurogenetics 8:137-42. 2007
    ..Particularly, if neurogenic atrophy is combined with a cardiac disease in a family, this should prompt LMNA mutation analysis...
  23. ncbi request reprint Vascular changes in the periosteum of congenital pseudarthrosis of the tibia
    Benita Hermanns-Sachweh
    Institute of Pathology, University Hospital, RWTH Aachen, Pauwelsstr 30, D 52057 Aachen, Germany
    Pathol Res Pract 201:305-12. 2005
    ..The similarity of ultrastructural findings in the abnormal periosteum and in skin neurofibromas of neurofibromatosis patients may indicate a pathogenetic association of both diseases...
  24. ncbi request reprint Light microscopic, immunohistochemical, and ultrastructural findings in congenital fibular aplasia or hypoplasia (FAH)
    Benita Hermanns-Sachweh
    Institute of Pathology, RWTH Aachen University, Germany
    Pediatr Dev Pathol 8:474-82. 2005
    ..The histomorphologic changes correspond to the histologic findings of Papenbrock et al. (2000, Mech Dev 92:113-123) who produced a congenital malformation in transgenic mice that resembled FAH by overexpression of Hox c11...
  25. ncbi request reprint A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease
    Stephan Zuchner
    Department of Neuropathology, University Hospital, Technical University of Aachen, Aachen, Germany
    Brain 126:920-7. 2003
    ..This case appears to be unique in respect to the underlying novel mutation in the ABC1 gene and its association with complete endoneurial sclerosis of all fascicles in the sural nerve and absence of cardiovascular disease...
  26. doi request reprint Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
    Ingo Kurth
    Department of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Nat Genet 41:1179-81. 2009
    ..This implicates FAM134B as critical in long-term survival of nociceptive and autonomic ganglion neurons...