Jorge Frank

Summary

Publications

  1. ncbi request reprint Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile
    J Frank
    Department of Dermatology, Columbia University, New York, NY, USA
    Hum Hered 51:160-8. 2001
  2. doi request reprint Porphyria cutanea tarda--when skin meets liver
    Jorge Frank
    Department of Dermatology, Euregional Porphyria Center Maastricht, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center MUMC, Maastricht, The Netherlands
    Best Pract Res Clin Gastroenterol 24:735-45. 2010
  3. doi request reprint Eruption of lymphocyte recovery or autologous graft-versus-host disease?
    Ruud G L Nellen
    Department of Dermatology, Maastricht University Medical Center, The Netherlands
    Int J Dermatol 47:32-4. 2008
  4. doi request reprint Coincidence of cutaneous follicle center lymphoma and diffuse large B-cell lymphoma
    Anne Moon van Tuyll van Serooskerken
    Department of Dermatology, University Medical Center Maastricht, The Netherlands
    Int J Dermatol 47:21-4. 2008
  5. ncbi request reprint Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria
    J Frank
    Department of Dermatology, Columbia University, New York, New York 10032, USA
    Clin Exp Dermatol 24:296-301. 1999
  6. doi request reprint Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes
    Eugene A de Zwart-Storm
    Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
    Exp Dermatol 20:408-12. 2011
  7. doi request reprint Hyperkeratosis lenticularis perstans (Flegel's disease) - successful treatment with topical corticosteroids
    Heleen Sterneberg-Vos
    Department of Dermatology, and Maastricht University Center for Molecular Dermatology, University Medical Center Maastricht, The Netherlands
    Int J Dermatol 47:38-41. 2008
  8. doi request reprint Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?
    Maurice A M van Steensel
    Department of Dermatology, University Medical Centre Maastricht, University Hospital Maastricht, Maastricht, The Netherlands
    Exp Dermatol 18:185-91. 2009
  9. doi request reprint Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer
    Sadhanna Badeloe
    Maastricht University Center for Molecular Dermatology, Department of Dermatology, University Medical Center Maastricht, Maastricht, The Netherlands
    Int J Dermatol 47:18-20. 2008
  10. ncbi request reprint The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene
    J Frank
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Dermatol Res 290:441-5. 1998

Collaborators

Detail Information

Publications24

  1. ncbi request reprint Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile
    J Frank
    Department of Dermatology, Columbia University, New York, NY, USA
    Hum Hered 51:160-8. 2001
    ..Our data comprise the first genetic studies of the porphyrias in South America and will streamline the elucidation of the genetic defects in VP patients from Chile by allowing an initial screening for the founder mutation 1239delTACAC...
  2. doi request reprint Porphyria cutanea tarda--when skin meets liver
    Jorge Frank
    Department of Dermatology, Euregional Porphyria Center Maastricht, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center MUMC, Maastricht, The Netherlands
    Best Pract Res Clin Gastroenterol 24:735-45. 2010
    ..Here we provide an update on clinical, diagnostic and therapeutic aspects of PCT, a disorder that affects both skin and liver...
  3. doi request reprint Eruption of lymphocyte recovery or autologous graft-versus-host disease?
    Ruud G L Nellen
    Department of Dermatology, Maastricht University Medical Center, The Netherlands
    Int J Dermatol 47:32-4. 2008
    ..Based on these data we would like to suggest that the latter two do not reflect own disease entities but rather different presentations of autologous GVHD...
  4. doi request reprint Coincidence of cutaneous follicle center lymphoma and diffuse large B-cell lymphoma
    Anne Moon van Tuyll van Serooskerken
    Department of Dermatology, University Medical Center Maastricht, The Netherlands
    Int J Dermatol 47:21-4. 2008
    ..Six months later, however, he developed a diffuse large B-cell non-Hodgkin lymphoma localized in several lymph nodes of the neck that most likely reflects the occurrence of a second primary tumor in the same patient...
  5. ncbi request reprint Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria
    J Frank
    Department of Dermatology, Columbia University, New York, New York 10032, USA
    Clin Exp Dermatol 24:296-301. 1999
    ..These mutations abolish the initiation of translation at the normal site, and consequently, translation of an abnormal messenger RNA (mRNA) would result in the synthesis of a truncated PPO protein lacking the amino terminus...
  6. doi request reprint Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes
    Eugene A de Zwart-Storm
    Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
    Exp Dermatol 20:408-12. 2011
    ..However, the differences between the phenotypes we observed cannot be readily explained from effects on protein trafficking or gap junction permeability...
  7. doi request reprint Hyperkeratosis lenticularis perstans (Flegel's disease) - successful treatment with topical corticosteroids
    Heleen Sterneberg-Vos
    Department of Dermatology, and Maastricht University Center for Molecular Dermatology, University Medical Center Maastricht, The Netherlands
    Int J Dermatol 47:38-41. 2008
    ..Treatment is difficult and rarely fully effective. We report on a woman with Flegel's disease who responded to a topical corticosteroid therapy with betamethasone dipropionate...
  8. doi request reprint Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?
    Maurice A M van Steensel
    Department of Dermatology, University Medical Centre Maastricht, University Hospital Maastricht, Maastricht, The Netherlands
    Exp Dermatol 18:185-91. 2009
    ..Here, we delineate how mTOR can link the various signalling pathways, thereby proposing a unifying model for hair follicle tumor formation...
  9. doi request reprint Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer
    Sadhanna Badeloe
    Maastricht University Center for Molecular Dermatology, Department of Dermatology, University Medical Center Maastricht, Maastricht, The Netherlands
    Int J Dermatol 47:18-20. 2008
    ..Although the familial occurrence of these rare tumors might be coincidental, it cannot be ruled out that, beside FH, mutations in another as yet unknown gene could give rise to both leiomyosarcoma and kidney cancer...
  10. ncbi request reprint The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene
    J Frank
    Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Dermatol Res 290:441-5. 1998
    ..Our study established that a missense mutation in the PPO gene was the underlying mutation in this patient with VP and explained the occurrence of the phenotype in this family...
  11. doi request reprint Basal cell carcinoma and trichoepithelioma: a possible matter of confusion
    Aimee H M M Arits
    Department of Dermatology, University Medical Center Maastricht, The Netherlands
    Int J Dermatol 47:13-7. 2008
    ..By means of two real life cases, we give here an overview of the possible problems and appliances in distinguishing these two entities; at the end we do some recommendation about the policy...
  12. doi request reprint Penile pyoderma gangrenosum: successful treatment with colchicine
    Lizelotte J M T Parren
    Department of Dermatology, University Medical Center Maastricht, The Netherlands
    Int J Dermatol 47:7-9. 2008
    ..To date, a specific treatment is not known. Since the disease can be destructive, aggressive treatment is preferable. Here, we present a patient with a penile pyoderma gangrenosum who was successfully treated with low-dose colchicine...
  13. doi request reprint T-cell large granular lymphocytic leukaemia with an uncommon clinical and immunological phenotype
    Maurice A M van Steensel
    Department of Dermatology, Maastricht University Medical Center, The Netherlands
    Acta Derm Venereol 89:172-4. 2009
    ..In this particular patient, however, it was instrumental in establishing the diagnosis and may have been enabled by the expression of cutaneous lymphocyte-associated antigen on the cell surface...
  14. doi request reprint Brooke-Spiegler syndrome complicated by unilateral hearing loss
    Lizelotte J M T Parren
    Department of Dermatology, Maastricht University Center for Molecular Dermatology, and GROW School for Oncology and Developmental Biology, University Hospital Maastricht, The Netherlands
    Int J Dermatol 47:56-9. 2008
    ..One of these neoplasms arose in the meatus externus of the right ear leading to unilateral hearing loss, a complication that has been documented only on few occasions in this disease...
  15. doi request reprint Tophi as first clinical sign of gout
    Carleine A C B Thissen
    Department of Dermatology, University Medical Center Maastricht, and Department of Dermatology, Atrium Medical Center, Heerlen, The Netherlands
    Int J Dermatol 47:49-51. 2008
    ..Here, we report on an 85-year-old woman who was diagnosed with tophaceous gout devoid of a prior medical history of the disease...
  16. doi request reprint Generalized pustulosis induced by adalimumab in a patient with rheumatoid arthritis - a therapeutic challenge
    Martina Kucharekova
    Department of Dermatology, Maastricht University Center for Molecular Dermatology, and GROW School for Oncology and Developmental Biology, University Medical Center Maastricht, The Netherlands
    Int J Dermatol 47:25-8. 2008
    ..To the best of our knowledge, this is the first report on a generalized, therapy-resistant pustulosis as an adverse effect of adalimumab...
  17. doi request reprint Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria
    Anne Moniek van Tuyll van Serooskerken
    Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
    J Invest Dermatol 131:2249-54. 2011
    ....
  18. doi request reprint Multiple unilateral skin tumors suggest type 1 segmental manifestation of familial syringoma
    Roeland P M Ceulen
    Department of Dermatology, University Hospital Maastricht, P Debyelaan 25 PO box 5800, 6202 AZ Maastricht, The Netherlands
    Eur J Dermatol 18:285-8. 2008
    ....
  19. doi request reprint Superficial thrombophlebitis of the venous dorsal arch of the foot and deep venous thrombosis after foam sclerotherapy
    Nadia Shadid
    Department of Dermatology, University Medical Center Maastricht, The Netherlands
    Int J Dermatol 47:29-31. 2008
    ....
  20. doi request reprint Lymphedema in Prader-Willi syndrome
    Martijn V Heitink
    Department of Dermatology, Maastricht University Center for Molecular Dermatology, GROW School for Oncology and Developmental Biology, and Governor Kremers Center, University Medical Center Maastricht, The Netherlands
    Int J Dermatol 47:42-4. 2008
    ..After edema reduction, elastic compressive stockings were fit. To the best of our knowledge, this is the first report on primary lymphedema in a patient with Prader-Willi syndrome, an association that is probably often missed...
  21. ncbi request reprint Porphyria cutanea tarda in pre-existent lupus erythematosus--is there an association?
    Anne Moon van Tuyll van Serooskerken
    Department of Dermatology and Euregional Porphyria Center Maastricht Aachen EPCMA, University Hospital Maastricht, Maastricht, The Netherlands
    Int J Dermatol 46:50-2. 2007
    ..Subsequent porphyrin analysis in urine and feces confirmed the suspected simultaneous manifestation of LE and PCT...
  22. ncbi request reprint Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene
    P Poblete-Gutierrez
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Physiol Res 55:S137-44. 2006
    ..Further, our findings largely exclude the possibility that a hitherto unknown gene is involved in the pathogenesis of the porphyrias...
  23. ncbi request reprint A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America
    P Poblete-Gutierrez
    Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Br J Dermatol 154:368-71. 2006
    ....
  24. ncbi request reprint Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria
    T Wiederholt
    Department of Dermatology, University Hospital Maastricht, The Netherlands
    Physiol Res 55:S85-92. 2006
    ....