R C Betz

Summary

Affiliation: University of Bonn
Country: Germany

Publications

  1. ncbi request reprint Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease
    Christian Kubisch
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Ann Neurol 53:512-20. 2003
  2. pmc Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease
    Regina C Betz
    Institute of Human Genetics, University of Bonn, D 53111 Bonn, Germany
    Am J Hum Genet 78:510-9. 2006
  3. ncbi request reprint Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease
    Regina C Betz
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    J Invest Dermatol 127:2539-43. 2007
  4. ncbi request reprint The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areata
    R C Betz
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
    Br J Dermatol 158:389-91. 2008
  5. doi request reprint G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
    Sandra M Pasternack
    Institute of Human Genetics, University of Bonn, Bonn 53111, Germany
    Nat Genet 40:329-34. 2008
  6. ncbi request reprint [Alopecia and hypotrichosis in childhood : Clinical features and diagnosis]
    R C Betz
    Institut fur Humangenetik, Biomedizinisches Zentrum BMZ, Universitat Bonn, Sigmund Freud Str 25, 53127, Bonn, Deutschland
    Hautarzt 65:520-6. 2014
  7. pmc The FU gene and its possible protein isoforms
    Torben Østerlund
    Department of Biosciences at Novum, Karolinska Institutet, SE 141 57 Huddinge, Sweden
    BMC Genomics 5:49. 2004
  8. ncbi request reprint Identification of mutations in the human hairless gene in two new families with congenital atrichia
    Regina C Betz
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Bonn, Germany
    Arch Dermatol Res 299:157-61. 2007
  9. doi request reprint Investigation of selected cytokine genes suggests that IL2RA and the TNF/LTA locus are risk factors for severe alopecia areata
    S Redler
    Institute of Human Genetics, University of Bonn, Sigmund Freud Str 25, D 53127 Bonn, Germany
    Br J Dermatol 167:1360-5. 2012
  10. pmc Localization of a gene for syndactyly type 1 to chromosome 2q34-q36
    K Bosse
    Institute of Human Genetics, University of Bonn, Germany
    Am J Hum Genet 67:492-7. 2000

Detail Information

Publications30

  1. ncbi request reprint Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease
    Christian Kubisch
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Ann Neurol 53:512-20. 2003
    ..Thus, we further extend the phenotypic variability of muscle caveolinopathies by identification of a severe form of RMD associated with homozygous CAV3 mutations...
  2. pmc Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease
    Regina C Betz
    Institute of Human Genetics, University of Bonn, D 53111 Bonn, Germany
    Am J Hum Genet 78:510-9. 2006
    ....
  3. ncbi request reprint Loss-of-function mutations in the filaggrin gene and alopecia areata: strong risk factor for a severe course of disease in patients comorbid for atopic disease
    Regina C Betz
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    J Invest Dermatol 127:2539-43. 2007
    ..003; odds ratio (OR)=5.47 (95% confidence interval (CI): 1.59-18.76)). In conclusion, our data suggest that when AA occurs in conjunction with FLG-associated atopic disorder, the clinical presentation of AA may be more severe...
  4. ncbi request reprint The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia areata
    R C Betz
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany
    Br J Dermatol 158:389-91. 2008
    ..A recent study has suggested that R620W also contributes to the severe form of alopecia areata (AA)...
  5. doi request reprint G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
    Sandra M Pasternack
    Institute of Human Genetics, University of Bonn, Bonn 53111, Germany
    Nat Genet 40:329-34. 2008
    ..This finding may provide opportunities for new therapeutic approaches to the treatment of hair loss in humans...
  6. ncbi request reprint [Alopecia and hypotrichosis in childhood : Clinical features and diagnosis]
    R C Betz
    Institut fur Humangenetik, Biomedizinisches Zentrum BMZ, Universitat Bonn, Sigmund Freud Str 25, 53127, Bonn, Deutschland
    Hautarzt 65:520-6. 2014
    ....
  7. pmc The FU gene and its possible protein isoforms
    Torben Østerlund
    Department of Biosciences at Novum, Karolinska Institutet, SE 141 57 Huddinge, Sweden
    BMC Genomics 5:49. 2004
    ..Since Ci and GLI are targets of Hedgehog signaling in development and morphogenesis, it is expected that FU plays an important role in Sonic, Desert and/or Indian Hedgehog induced cellular signaling...
  8. ncbi request reprint Identification of mutations in the human hairless gene in two new families with congenital atrichia
    Regina C Betz
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Bonn, Germany
    Arch Dermatol Res 299:157-61. 2007
    ..Our study emphasizes the importance of sequencing the complete coding sequence and exon/intron junctions in the molecular diagnostics of AUC and APL...
  9. doi request reprint Investigation of selected cytokine genes suggests that IL2RA and the TNF/LTA locus are risk factors for severe alopecia areata
    S Redler
    Institute of Human Genetics, University of Bonn, Sigmund Freud Str 25, D 53127 Bonn, Germany
    Br J Dermatol 167:1360-5. 2012
    ..However, these cannot yet be considered proven susceptibility loci, as many of these association findings were derived from small patient samples...
  10. pmc Localization of a gene for syndactyly type 1 to chromosome 2q34-q36
    K Bosse
    Institute of Human Genetics, University of Bonn, Germany
    Am J Hum Genet 67:492-7. 2000
    ..Key recombination events in affected individuals defined a 9.4-cM region between markers D2S2319 and D2S344. The identification of the responsible gene will give further insights into the molecular basis of limb development...
  11. ncbi request reprint Investigation of the functional variant c.-169T > C of the Fc receptor-like 3 (FCRL3) gene in alopecia areata
    N Schafer
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Int J Immunogenet 33:393-5. 2006
    ..Investigating a large case-control sample of patients with alopecia areata (AA), we found no evidence for the involvement of FCRL3 in susceptibility to AA...
  12. doi request reprint The TRAF1/C5 locus confers risk for familial and severe alopecia areata
    S Redler
    Institute of Human Genetics, University of Bonn, Sigmund Freud Str 25, D 53127, Bonn, Germany
    Br J Dermatol 162:866-9. 2010
    ..Recent studies have shown that genetic variants on the TRAF1/C5 (tumor necrosis factor receptor-associated factor 1, complement component 5) locus confer susceptibility to rheumatoid arthritis (RA)...
  13. ncbi request reprint Investigation of the p.Ser278Arg polymorphism of the autoimmune regulator (AIRE) gene in alopecia areata
    J Pforr
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Tissue Antigens 68:58-61. 2006
    ..Our study results do not support the hypothesis that the g.961C >G (p.Ser278Arg) polymorphism of the AIRE gene is associated with an increased risk for AA...
  14. doi request reprint A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL
    S M Pasternack
    Institute für Humangenetik, University of Bonn, Sigmund Freud Strase 25, Bonn, Germany
    Klin Padiatr 225:29-33. 2013
    ..Western blotting from lymphocyte samples failed to detect OCRL protein even in controls.Our findings extend the phenotypic spectrum caused by OCRL mutations and illustrate that there may be selective organ involvement in Lowe syndrome...
  15. doi request reprint Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss
    S Redler
    Institute of Human Genetics, University of Bonn, Sigmund Freud Str 25, D 53127 Bonn, Germany
    Br J Dermatol 166:1314-8. 2012
    ..The two major susceptibility loci for AGA are the androgen receptor (AR)/ectodysplasin A2 receptor (EDA2R) locus on the X-chromosome, and a locus on chromosome 20p11, for which no candidate gene has yet been identified...
  16. doi request reprint Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay
    M Refke
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    Br J Dermatol 165:1127-32. 2011
    ..Patients are born with normal hair that is shed almost completely and irreversibly during the first weeks of life...
  17. ncbi request reprint Family-based association study of the MTHFR polymorphism C677T in the bladder-exstrophy-epispadias-complex
    Heiko Reutter
    Department of Human Genetics, University of Bonn, Bonn, Germany
    Am J Med Genet A 140:2506-9. 2006
  18. doi request reprint Susceptibility variants for male-pattern baldness on chromosome 20p11
    Axel M Hillmer
    Department of Genomics, Life and Brain Center, University of Bonn, D 53127 Bonn, Germany
    Nat Genet 40:1279-81. 2008
    ..7 x 10(-15)). No interaction was detected with the X-chromosomal androgen receptor locus, suggesting that the 20p11 locus has a role in a yet-to-be-identified androgen-independent pathway...
  19. pmc Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26
    Axel M Hillmer
    Department of Genomics, Life and Brain Center, University of Bonn, D 53127 Bonn, Germany
    Am J Hum Genet 82:737-43. 2008
    ..97 (empirical p value = 0.00055). This is the first step toward the identification of new susceptibility genes in AGA, a process which will provide important insights into the molecular and cellular basis of scalp hair loss...
  20. doi request reprint Efficacy of ablative laser treatment in Galli-Galli disease
    Harald Voth
    Department of Dermatology and Allergy, University of Bonn, Germany
    Arch Dermatol 147:317-20. 2011
    ..To date, no convincing treatment options are known for GGD. We sought to examine the therapeutic potential of ablative laser treatment in a patient with genetically confirmed GGD...
  21. ncbi request reprint MTHFR 677 TT genotype in a mother and her child with Down syndrome, atrioventricular canal and exstrophy of the bladder: implications of a mutual genetic risk factor?
    Heiko Reutter
    Institute of Human Genetics, University of Bonn, Wilhelmstr 31, 53111, Bonn, and Department of Pediatric Surgery and Pediatric Urology, Children s Hospital, Koln, Germany
    Eur J Pediatr 165:566-8. 2006
    ..that the MTHFR 677TT could be a mutual genetic risk factor for the co-occurrence of trisomy 21 and midline defects, the risk of which may be reduced by periconceptional folic acid supplementation...
  22. doi request reprint Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report
    Silke Redler
    Institute of Human Genetics, University of Bonn, Bonn, Germany
    J Am Acad Dermatol 64:e45-50. 2011
    ..Causal mutations in U2HR, an inhibitory upstream open reading frame in the 5'-untranslated region of the human hairless (HR) gene, were recently identified in several unrelated MUHH families from various ethnic backgrounds...
  23. ncbi request reprint The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach
    A M Hillmer
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany
    Br J Dermatol 146:601-8. 2002
    ..The main feature of these disorders is persistent complete absence of hair at or shortly after birth. This suggests that HR is essential and specific for the development of hair...
  24. pmc A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3
    R C Betz
    Institute of Human Genetics, University of Bonn, D 53111 Bonn, Germany
    Am J Hum Genet 66:1979-83. 2000
    ..Localization of the locus for HSS to 6p21.3 is a first step toward identification of the gene. The gene will give important insights into the molecular and cellular basis of hair growth on the scalp...
  25. pmc Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia
    Axel M Hillmer
    Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany
    Am J Hum Genet 77:140-8. 2005
    ..The X-chromosomal location of AR stresses the importance of the maternal line in the inheritance of AGA...
  26. ncbi request reprint Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad
    Laura Maintz
    Department of Dermatology, University of Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    Eur J Dermatol 15:347-52. 2005
    ..To our knowledge, only one case of KID syndrome occurring in association with follicular occlusion triad has been reported before...
  27. ncbi request reprint Identification of a keratin-associated protein with a putative role in vesicle transport
    Laura Planko
    Institut fur Physiologische Chemie, Abteilung für Zellbiochemie, Bonner Forum Biomedizin und LIMES, Rheinische Friedrich Wilhelms Universitat, Nussallee 11, D 53115 Bonn, Germany
    Eur J Cell Biol 86:827-39. 2007
    ..We hypothesise that this interaction is involved in melanosome formation or transport in keratinocytes. Alternatively, it may have a general function in the regulation of keratin assembly...
  28. ncbi request reprint Investigation of the HLA-DRB1 locus in alopecia areata
    Patricia Entz
    Institute for Legal Medicine, Charite University Hospital, Berlin, Germany
    Eur J Dermatol 16:363-7. 2006
    ..3%, p = 0.014). Results obtained after subgrouping of the patients according to age at onset, severity and family history of the disease suggests that the genetic effects of the HLA system are strongest in familial cases of the disease...
  29. ncbi request reprint Familial aggregation of alopecia areata
    Bettina Blaumeiser
    Department of Medical Genetics, University Hospital of Antwerp, Antwerp, Belgium
    J Am Acad Dermatol 54:627-32. 2006
    ..Familial aggregation of alopecia areata (AA) has been previously described, but systematic studies with information obtained directly from family members have yet to be undertaken...
  30. ncbi request reprint Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
    Etgar Levy-Nissenbaum
    Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel and Tel Aviv University, Tel Aviv, Israel
    Nat Genet 34:151-3. 2003
    ..Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology...