Research Topics
Species | A VahlquistSummaryAffiliation: Uppsala University Country: Sweden Publications
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Publications
[Burdensome rules for clinical trials are not in proportion to benefits for the patient]Anders Vahlquist
Akademiska sjukhuset, Uppsala
Lakartidningen 102:1832, 1834; discussion 1834. 2005
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patientsAnders Vahlquist
Department of Medical Sciences, Uppsala University, Uppsala, Sweden
J Invest Dermatol 130:438-43. 2010..In conclusion, ALOX12B mutations are the leading cause of SICI in Scandinavia, followed by ALOXE3 mutations, which have not been previously associated with this variant of ARCI...
Epidermolysis bullosa care in ScandinaviaAnders Vahlquist
Department of Medical Sciences, Uppsala University, University Hospital, Uppsala, Sweden
Dermatol Clin 28:425-7, xv. 2010..A close collaboration with patient organizations and various charity organizations will be very helpful in this respect...
Inefficacy of topical thyroid hormone analogue TriAc in plaque psoriasis: results of a double-blind placebo-controlled trialA Vahlquist
Department of Medical Sciences Dermatology, University Hospital, SE 751 85 Uppsala, Sweden
Br J Dermatol 151:489-91. 2004..TriAc (3,3',5-triiodo-thyroacetic acid) is a well-known thyroid hormone analogue with much reduced cardiac thyrotoxic activity compared with the classical thyroid hormones...
Congenital ichthyosis: an overview of current and emerging therapiesAnders Vahlquist
Department of Medical Sciences, Section of Dermatology, University Hospital, University of Uppsala, Uppsala, Sweden
Acta Derm Venereol 88:4-14. 2008..This calls for new ideas and intensified efforts to develop future ichthyosis therapies...
Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scalingAnders Vahlquist
Department of Medical Sciences Dermatology, Uppsala University, Uppasala, Sweden
Acta Derm Venereol 90:454-60. 2010..To remind health providers about this heterogeneous group of partially transient disorders of cornification, a new umbrella term, "pleomorphic ichthyosis", is proposed...
[The Berzelius symposium on genetic dermatoses: cutaneous gene therapy--potential treatment of severe skin diseases]Anders Vahlquist
Hudkliniken, Akademiska sjukhuset, Uppsala
Lakartidningen 99:2041-5. 2002
The vitamin A metabolism and expression of retinoid-binding proteins differ in HaCaT cells and normal human keratinocytesH Torma
Department of Medical Sciences, University of Uppsala, Sweden
Arch Dermatol Res 291:339-45. 1999....
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermisJ Dahlqvist
Department of Genetics and Pathology, Uppsala University, The Rudbeck Laboratory, Uppsala, Sweden
J Med Genet 44:615-20. 2007..Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of skin disorders. Several mutant genes have been identified in ARCI, but the association between genotype and phenotype is poorly understood...
Topical treatment with CYP26 inhibitor talarozole (R115866) dose dependently alters the expression of retinoid-regulated genes in normal human epidermisE Pavez Loriè
Department of Medical Sciences Dermatology, Uppsala University, SE 751 85 Uppsala, Sweden
Br J Dermatol 160:26-36. 2009..An alternative approach to retinoid therapy is to inhibit the cytochrome P450 (CYP)-mediated catabolism of endogenous all-trans retinoic acid in the skin by applying retinoic acid metabolism blocking agents such as talarozole (R115866)...
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expressionM Virtanen
Department of Medical Sciences, Section of Dermatology, Uppsala University, Sweden
Acta Derm Venereol 81:163-70. 2001....
Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a useful in vitro model for testing new treatmentsJ C Chamcheu
Department of Medical Sciences, Dermatology and Venereology, University Hospital, Uppsala University, SE 751 85 Uppsala, Sweden
Br J Dermatol 164:263-72. 2011..While the aetiology of EI is known, model systems are needed for pathophysiological studies and development of novel therapies...
Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosisMarie Virtanen
Department of Medical Sciences, Dermatology Section, Uppsala University, Uppsala, Sweden
J Invest Dermatol 121:1013-20. 2003....
Topical retinoic acid alters the expression of cellular retinoic acid-binding protein-I and cellular retinoic acid-binding protein-II in non-lesional but not lesional psoriatic skinT Karlsson
Department of Medical Sciences, Section of Dermatology and Venereology, Uppsala University, Sweden
Exp Dermatol 11:143-52. 2002..Whether the high expression of CRABPII in psoriatic skin lesions is due to increased amounts of endogenous retinoids in lesional skin or reflects an abnormal regulation of the CRABPII gene in psoriasis remains to be studied...
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype associationM Melin
Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala 751 85, Sweden
J Hum Genet 51:864-71. 2006..This region spans four known genes, all of which are expressed in mature epidermal cells. We present the results from the analysis of these four genes and their corresponding transcripts in normal and patient-derived samples...
Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patientsAgneta Gånemo
Department of Medical Sciences Dermatology, Uppsala University, Uppsala, Sweden
Acta Derm Venereol 83:24-30. 2003..The transglutaminase-unrelated cases are more heterogeneous, probably reflecting a more varied aetiology...
Health-related quality of life among patients with ichthyosisAgneta Gånemo
Department of Medical Sciences, Section of Dermatology, Uppsala University, Sweden
Eur J Dermatol 14:61-6. 2004..No differences in SF-36 were found between men and women or between the different groups of ichthyosis. The results demonstrate that ichthyosis has an adverse effect on HRQoL...
The pH gradient over the stratum corneum differs in X-linked recessive and autosomal dominant ichthyosis: a clue to the molecular origin of the "acid skin mantle"?H Ohman
Department of Biomedicine and Surgery, University Hospital, Linkoping, Sweden
J Invest Dermatol 111:674-7. 1998..Because corneocyte desquamation involves many pH-dependent enzymes, abnormalities in the transcorneal pH gradient might play a role in the pathogenesis of ichthyosis...
What are natural retinoids?A Vahlquist
Section of Dermatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden
Dermatology 199:3-11. 1999..Inevitably, treatment with such drugs will influence the effects of coexisting natural retinoids. An understanding of the basic principles of these interactions may have major impact on patient outcome...
Keratins 2 and 4/13 in reconstituted human skin are reciprocally regulated by retinoids binding to nuclear receptor RARalphaMarie Virtanen
Department of Medical Sciences, Uppsala University, Sweden
Exp Dermatol 19:674-81. 2010..In conclusion, RARalpha agonists elicit a reciprocal modulation of KRT2 and KRT4/KRT13 expression in human epidermis, but whether or not the keratin genes also possess RARalpha-specific regulatory elements is still unclear...
Sjögren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patientsAgneta Gånemo
Department of Medical Sciences Dermatology, Uppsala University, Uppsala, Sweden
Acta Derm Venereol 89:68-73. 2009..In conclusion, SLS is a chronic, severely disabling neurocutaneous disease in which optimal dermatological therapy is essential to relieve at least the patient's ichthyosis problem...
Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozoleElizabeth Pavez Loriè
Department of Medical Sciences Dermatology, Uppsala University, Uppsala, Sweden
Acta Derm Venereol 89:12-20. 2009..The results suggest that liarozole exerts a therapeutic effect in lamellar ichthyosis by mildly affecting the expression of retinoid- regulated genes in epidermis...
Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretinMarie Louise Bondeson
Department of Genetics and Pathology, University of Uppsala, Sweden
Acta Derm Venereol 86:503-8. 2006..Asp50Asn was found in the patient with KID syndrome. The clinical features, particularly a proneness to skin cancer in the patient with Vohwinkel syndrome, are discussed in relation to the identified genotypes...
X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatmentsT Hoppe
Department of Medical Sciences, Dermatology and Venereology, Uppsala University, SE 75185 Uppsala, Sweden
Br J Dermatol 167:514-22. 2012..XLRI is characterized by dry, scaly skin and increased skin barrier permeability; patients are often dependent on daily use of moisturizers...
Keratinocyte differentiation induced by calcium, phorbol ester or interferon-gamma elicits distinct changes in the retinoid signalling pathwaysTeresa Karlsson
Department of Medical Sciences, Section of Dermatology and Venereology, Uppsala University, Sweden
J Dermatol Sci 57:207-13. 2010..The effect of keratinocyte differentiation on expression of nuclear retinoid receptors and on the conversion of retinol into retinoic acid has not been examined earlier in depth...
Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndromeJoakim Klar
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden
Am J Hum Genet 85:248-53. 2009..Our results further emphasize the importance of fatty acid metabolism for normal epidermal barrier function illustrated by deficiency of a member in the FATP family of proteins...
Characterization of immortalized human epidermolysis bullosa simplex (KRT5) cell lines: trimethylamine N-oxide protects the keratin cytoskeleton against disruptive stress conditionJean Christopher Chamcheu
Department of Medical Sciences Dermatology and Venereology, Uppsala University Hospital, SE 751 85 Uppsala, Sweden
J Dermatol Sci 53:198-206. 2009..Despite a vast knowledge about the intermediate filament pathology in this disease, the progress in therapy has been slow. Animal models and well-characterized continuous cell culture models of EBS are needed prior to clinical testing...
Both all-trans retinoic acid and cytochrome P450 (CYP26) inhibitors affect the expression of vitamin A metabolizing enzymes and retinoid biomarkers in organotypic epidermisElizabeth Pavez Loriè
Department of Medical Sciences, Dermatology and Venereology, Uppsala University, 751 85 Uppsala, Sweden
Arch Dermatol Res 301:475-85. 2009..e. due to CYP26 inhibition, and thus an excellent biomarker for retinoid signalling in organotypic epidermis...
Immunofluorescence localization of nuclear retinoid receptors in psoriasis versus normal human skinTeresa Karlsson
Department of Medical Sciences, Section of Dermatology and Venereology, Uppsala University, Sweden
Acta Derm Venereol 84:363-9. 2004..The results support the idea that psoriasis is associated with abnormal retinoid signalling in lesional epidermis...
Quality of life in adults with congenital ichthyosisAgneta Gånemo
Department of Medical Sciences, Section of Dermatology, Uppsala University, Uppsala, Sweden
J Adv Nurs 44:412-9. 2003..Describing life history and quality of life from an individual perspective could increase understanding of living with generalized congenital ichthyosis for nursing staff and others...
13-cis-retinoic acid competitively inhibits 3 alpha-hydroxysteroid oxidation by retinol dehydrogenase RoDH-4: a mechanism for its anti-androgenic effects in sebaceous glands?Teresa Karlsson
Department of Medical Sciences Dermatology and Venereology, University Hospital, Uppsala, Sweden
Biochem Biophys Res Commun 303:273-8. 2003..e., reduced the formation of dihydrotestosterone and androstandione in vitro. Extrapolated to the in vivo situation, this effect might explain the unique sebosuppressive effect of isotretinoin when treating acne...
The involvement of cytochrome p450 (CYP) 26 in the retinoic acid metabolism of human epidermal keratinocytesElizabeth Pavez Loriè
Department of Medical Sciences, Dermatology and Venereology, Uppsala University, SE 751 85 Uppsala, Sweden
Biochim Biophys Acta 1791:220-8. 2009..Thus CYP26B1 appears essential for RA catabolism under physiological conditions, whereas CYP26A1 might play a greater role during RA excess...
Differential effects of UV irradiation on nuclear retinoid receptor levels in cultured keratinocytes and melanocytesEva Andersson
Department of Biomedicine and Surgery, Division of Dermatology, Clinical Research Center, Faculty of Health Sciences, Linkoping University, Linkoping, Sweden
Exp Dermatol 12:563-71. 2003....
