Research Topics
Genomes and Genes
| Jan SenderekSummaryAffiliation: University Hospital Country: Germany Publications
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Detail Information
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...- 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.... - 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... - 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... - 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... - 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... - 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... - 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... - 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... - 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.... - Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblingsMiriam 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... - 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... - 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... - 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... - Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutationSabine 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... - 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... - 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.... - 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... - 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.... - A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variantAndreas 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... - 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 of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophySabine 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... - Vascular changes in the periosteum of congenital pseudarthrosis of the tibiaBenita 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... - 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... - A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier diseaseStephan 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... - Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyIngo 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...