Marcel Huber

Publications | Mémoires et thèses

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78 publications

Sous presse | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 | 1999 | 1998 | 1997 | 1996 | 1995 | 1994 | 1993 | 1992 | 1991 | 1988 | 1987 | 1985 |
 
CENPV is a CYLD-interacting molecule regulating ciliary acetylated α-tubulin.
Chiticariu E., Regamey A., Huber M., Hohl D. The Journal of investigative dermatology. Peer-reviewed.
 
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Bal Elodie, Park Hyun-Sook, Belaid-Choucair Zakia, Kayserili Hülya, Naville Magali, Madrange Marine, Chiticariu Elena, Hadj-Rabia Smail, Cagnard Nicolas, Kuonen Francois et al., 2017/10. Nature Medicine, 23 (10) pp. 1226-1233.
 
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Bal E., Park H.S., Belaid-Choucair Z., Kayserili H., Naville M., Madrange M., Chiticariu E., Hadj-Rabia S., Cagnard N., Kuonen F. et al., 2017/10. Nature medicine, 23 (10) pp. 1226-1233. Peer-reviewed.
 
Keratoacanthoma: a distinct entity?
Gleich T., Chiticariu E., Huber M., Hohl D., 2016/02. Experimental dermatology, 25 (2) pp. 85-91. Peer-reviewed.
 
HOPX: The Unusual Homeodomain-Containing Protein.
Mariotto A., Pavlova O., Park H.S., Huber M., Hohl D., 2016. Journal of Investigative Dermatology, 136 (5) pp. 905-911.
 
Nrf2 Activation Promotes Keratinocyte Survival during Early Skin Carcinogenesis via Metabolic Alterations.
Rolfs F., Huber M., Kuehne A., Kramer S., Haertel E., Muzumdar S., Wagner J., Tanner Y., Böhm F., Smola S. et al., 2015. Cancer Research, 75 (22) pp. 4817-4829. Peer-reviewed.
The caspase-3-p120-RasGAP module generates a NF-κB repressor in response to cellular stress.
Khalil H., Loukili N., Regamey A., Cuesta-Marban A., Santori E., Huber M., Widmann C., 2015. Journal of Cell Science, 128 (18) pp. 3502-3513. Peer-reviewed.
The TRAF-interacting protein (TRAIP) is a novel E2F target with peak expression in mitosis.
Chapard C., Hohl D., Huber M., 2015. Oncotarget, 6 (25) pp. 20933-20945. Peer-reviewed.
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma.
Pohler E., Huber M., Boonen S.E., Zamiri M., Gregersen P.A., Sommerlund M., Ramsing M., Hohl D., McLean W.H., Smith F.J., 2014. British Journal of Dermatology, 171 (2) pp. 433-436.
TRAIP is a regulator of the spindle assembly checkpoint.
Chapard C., Meraldi P., Gleich T., Bachmann D., Hohl D., Huber M., 2014. Journal of Cell Science, 127 (24) pp. 5149-5156. Peer-reviewed.
Activin a inhibits antigen-induced allergy in murine epicutaneous sensitization.
Kypriotou M., Rivero D., Haller S., Mariotto A., Huber M., Acha-Orbea H., Werner S., Hohl D., 2013. Frontiers in Immunology, 4 (246) pp. 1-10.
 
Dual role of the antioxidant enzyme peroxiredoxin 6 in skin carcinogenesis.
Rolfs F., Huber M., Gruber F., Böhm F., Pfister H.J., Bochkov V.N., Tschachler E., Dummer R., Hohl D., Schäfer M. et al., 2013. Cancer Research, 73 (11) pp. 3460-3469.
Ichthyosen : Pathophysiologische Modelle der epidermalen Differenzierung [The ichthyoses : Pathophysiological models of epidermal differentiation].
Hohl D., Huber M., 2013. Der Hautarzt, 64 (1) pp. 12-21.
 
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.
Mallet A., Kypriotou M., George K., Leclerc E., Rivero D., Mazereeuw-Hautier J., Serre G., Huber M., Jonca N., Hohl D., 2013. British Journal of Dermatology, 169 (6) pp. 1322-1325.
 
Mast cells are dispensable for normal and activin-promoted wound healing and skin carcinogenesis.
Antsiferova M., Martin C., Huber M., Feyerabend T.B., Förster A., Hartmann K., Rodewald H.R., Hohl D., Werner S., 2013. Journal of Immunology, 191 (12) pp. 6147-6155.
Spontaneous Atopic Dermatitis-Like Symptoms in a/a ma ft/ma ft/J Flaky Tail Mice Appear Early after Birth.
Kypriotou M., Boéchat C., Huber M., Hohl D., 2013. Plos One, 8 (7) pp. e67869.
 
The human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the 'fused genes' family.
Kypriotou M., Huber M., Hohl D., 2012. Experimental Dermatology, 21 (9) pp. 643-649. Peer-reviewed.
The role of the TRAF-interacting protein in proliferation and differentiation.
Chapard C., Hohl D., Huber M., 2012. Experimental Dermatology, 21 (5) pp. 321-326. Peer-reviewed.
Activin enhances skin tumourigenesis and malignant progression by inducing a pro-tumourigenic immune cell response.
Antsiferova M., Huber M., Meyer M., Piwko-Czuchra A., Ramadan T., MacLeod A.S., Havran W.L., Dummer R., Hohl D., Werner S., 2011. Nature Communications, 2 p. 576.
 
Homeodomain-only protein HOP is a novel modulator of late differentiation in keratinocytes.
Obarzanek-Fojt M., Favre B., Kypriotou M., Ryser S., Huber M., Hohl D., 2011. European Journal of Cell Biology, 90 (4) pp. 279-290. Peer-reviewed.
 
Induction of p38, tumour necrosis factor-α and RANTES by mechanical stretching of keratinocytes expressing mutant keratin 10R156H.
Obarzanek-Fojt M., Favre B., Huber M., Ryser S., Moodycliffe A.M., Wipff P.J., Hinz B., Hohl D., 2011. British Journal of Dermatology, 164 (1) pp. 125-134.
 
The TRAF-interacting protein (TRIP) is a regulator of keratinocyte proliferation.
Almeida S., Ryser S., Obarzanek-Fojt M., Hohl D., Huber M., 2011. Journal of Investigative Dermatology, 131 (2) pp. 349-357.
 
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Wen Y., Liu Y., Xu Y., Zhao Y., Hua R., Wang K., Sun M., Li Y., Yang S., Zhang X.J. et al., 2009. Nature Genetics, 41 (2) pp. 228-233. Peer-reviewed.
 
Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs.
Credille K.M., Minor J.S., Barnhart K.F., Lee E., Cox M.L., Tucker K.A., Diegel K.L., Venta P.J., Hohl D., Huber M. et al., 2009. British Journal of Dermatology, 161 (2) pp. 265-272. Peer-reviewed.
 
Cutaneous cancer stem cell maintenance is dependent on beta-catenin signalling.
Malanchi I., Peinado H., Kassen D., Hussenet T., Metzger D., Chambon P., Huber M., Hohl D., Cano A., Birchmeier W. et al., 2008. Nature, 452 (7187) pp. 650-653.
 
Five new CYLD mutations in skin appendage tumors and evidence that aspartic acid 681 in CYLD is essential for deubiquitinase activity.
Almeida S., Maillard C., Itin P., Hohl D., Huber M., 2008. Journal of Investigative Dermatology, 128 (3) pp. 587-593.
 
SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda
Favre B., Plantard L., Aeschbach L., Brakch N., Christen-Zaech S., de Viragh P. A., Sergeant A., Huber M., Hohl D., 2007/02. Journal of Investigative Dermatology, 127 (2) pp. 301-8.
 
Histone acetyltransferase HBO1 inhibits NF-kappaB activity by coactivator sequestration
Contzler R., Regamey A., Favre B., Roger T., Hohl D., Huber M., 2006/11. Biochemical and Biophysical Research Communications, 350 (1) pp. 208-13.
 
Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data
Christen-Zach S., Huber M., Struk B., Lindpaintner K., Munier F., Panizzon R. G., Hohl D., 2006/07. British Journal of Dermatology, 155 (1) pp. 89-93.
 
Confirmation of the origin of NISCH syndrome
Feldmeyer L., Huber M., Fellmann F., Beckmann J. S., Frenk E., Hohl D., 2006/05. Human Mutation, 27 (5) pp. 408-10.
 
Nrf transcription factors in keratinocytes are essential for skin tumor prevention but not for wound healing
auf dem Keller U., Huber M., Beyer T. A., Kumin A., Siemes C., Braun S., Bugnon P., Mitropoulos V., Johnson D. A., Johnson J. A. et al., 2006/05. Molecular and Cellular Biology, 26 (10) pp. 3773-84.
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis
Muller F. B., Huber M., Kinaciyan T., Hausser I., Schaffrath C., Krieg T., Hohl D., Korge B. P., Arin M. J., 2006/04. Human Molecular Genetics, 15 (7) pp. 1133-41.
 
Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)
Feldmeyer L., Mevorah B., Grzeschik K. H., Huber M., Hohl D., 2006/04. British Journal of Dermatology, 154 (4) pp. 766-769.
 
Detection of coronary stenoses with contrast enhanced, three-dimensional free breathing coronary MR angiography using the gadolinium-based intravascular contrast agent gadocoletic acid (B-22956).
Paetsch I., Jahnke C., Barkhausen J., Spuentrup E., Cavagna F., Schnackenburg B., Huber M., Stuber M., Fleck E., Nagel E., 2006. Journal of Cardiovascular Magnetic Resonance, 8 (3) pp. 509-516.
 
Cornulin, a new member of the "fused gene" family, is expressed during epidermal differentiation
Contzler R., Favre B., Huber M., Hohl D., 2005/05. Journal of Investigative Dermatology, 124 (5) pp. 990-7.
 
Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex
Huber M., Siegenthaler G., Mirancea N., Marenholz I., Nizetic D., Breitkreutz D., Mischke D., Hohl D., 2005/05. Journal of Investigative Dermatology, 124 (5) pp. 998-1007.
 
Novel mutation of connexin 31 causing erythrokeratoderma variabilis
Feldmeyer L., Plantard L., Mevorah B., Huber M., Hohl D., 2005/05. British Journal of Dermatology, 152 (5) pp. 1072-1074.
 
Infection with Human Papillomavirus alters expression of the small proline rich proteins 2 and 3
Lehr E., Hohl D., Huber M., Brown D., 2004/03. Journal of Medical Virology, 72 (3) pp. 478-83.
 
Molecular consequences of deletion of the cytoplasmic domain of bullous pemphigoid 180 in a patient with predominant features of epidermolysis bullosa simplex
Fontao L., Tasanen K., Huber M., Hohl D., Koster J., Bruckner-Tuderman L., Sonnenberg A., Borradori L., 2004/01. Journal of Investigative Dermatology, 122 (1) pp. 65-72.
Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis
Plantard L., Huber M., Macari F., Meda P., Hohl D., 2003/12. Human Molecular Genetics, 12 (24) pp. 3287-94.
The tumor suppressor CYLD interacts with TRIP and regulates negatively nuclear factor kappaB activation by tumor necrosis factor
Regamey A., Hohl D., Liu J. W., Roger T., Kogerman P., Toftgard R., Huber M., 2003/12. Journal of Experimental Medicine, 198 (12) pp. 1959-64.
Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda
Chimienti F., Hogg R. C., Plantard L., Lehmann C., Brakch N., Fischer J., Huber M., Bertrand D., Hohl D., 2003/11. Human Molecular Genetics, 12 (22) pp. 3017-24.
 
Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations
Morley S. M., D'Alessandro M., Sexton C., Rugg E. L., Navsaria H., Shemanko C. S., Huber M., Hohl D., Heagerty A. I., Leigh I. M. et al., 2003/07. British Journal of Dermatology, 149 (1) pp. 46-58.
 
Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex
Huber M., Floeth M., Borradori L., Schacke H., Rugg E. L., Lane E. B., Frenk E., Hohl D., Bruckner-Tuderman L., 2002/01. Journal of Investigative Dermatology, 118 (1) pp. 185-92.
Mutations in the gene encoding SLURP-1 in Mal de Meleda
Fischer J., Bouadjar B., Heilig R., Huber M., Lefevre C., Jobard F., Macari F., Bakija-Konsuo A., Ait-Belkacem F., Weissenbach J. et al., 2001/04. Human Molecular Genetics, 10 (8) pp. 875-80.
 
Expression of small proline rich proteins in neoplastic and inflammatory skin diseases
De Heller-Milev M., Huber M., Panizzon R., Hohl D., 2000/10. British Journal of Dermatology, 143 (4) pp. 733-40.
Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein
Koch P. J., de Viragh P. A., Scharer E., Bundman D., Longley M. A., Bickenbach J., Kawachi Y., Suga Y., Zhou Z., Huber M. et al., 2000/10. Journal of Cell Biology, 151 (2) pp. 389-400.
 
Epidermal growth factor and keratinocyte growth factor differentially regulate epidermal migration, growth, and differentiation
Gibbs S., Silva Pinto A. N., Murli S., Huber M., Hohl D., Ponec M., 2000/06. Wound Repair and Regeneration, 8 (3) pp. 192-203.
 
Efficient in vitro transfection of human keratinocytes with an adenovirus-enhanced receptor-mediated system
Huber M., Limat A., Wagner E., Hohl D., 2000/04. Journal of Investigative Dermatology, 114 (4) pp. 661-6.
 
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.
Macari F., Landau M., Cousin P., Mevorah B., Brenner S., Panizzon R., Schorderet D.F., Hohl D., Huber M., 2000. American journal of human genetics, 67 (5) pp. 1296-301. Peer-reviewed.
 
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
Struk B., Cai L., Zach S., Ji W., Chung J., Lumsden A., Stumm M., Huber M., Schaen L., Kim C. A. et al., 2000. Journal of Molecular Medicine, 78 (5) pp. 282-6.
 
A novel substitution in keratin 10 in epidermolytic hyperkeratosis
Arin M. J., Longley M. A., Anton-Lamprecht I., Kurze G., Huber M., Hohl D., Rothnagel J. A., Roop D. R., 1999/04. Journal of Investigative Dermatology, 112 (4) pp. 506-8.
 
An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis
Arin M. J., Longley M. A., Kuster W., Huber M., Hohl D., Rothnagel J. A., Roop D. R., 1999/04. Experimental Dermatology, 8 (2) pp. 124-7.
 
In vitro and rapid in situ transglutaminase assays for congenital ichthyoses--a comparative study
Hohl D., Aeschlimann D., Huber M., 1998/03. Journal of Investigative Dermatology, 110 (3) pp. 268-71.
 
Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase
Huber M., Yee V. C., Burri N., Vikerfors E., Lavrijsen A. P., Paller A. S., Hohl D., 1997/08. Journal of Biological Chemistry, 272 (34) pp. 21018-26.
 
Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activity
Petit E., Huber M., Rochat A., Bodemer C., Teillac-Hamel D., Muh J. P., Revuz J., Barrandon Y., Lathrop M., de Prost Y. et al., 1997/08. European Journal of Human Genetics, 5 (4) pp. 218-28.
 
Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene
Schorderet D. F., Huber M., Laurini R. N., Von Moos G., Gianadda B., Deleze G., Hohl D., 1997/05. Prenatal Diagnosis, 17 (5) pp. 483-6.
 
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma
Joh G. Y., Traupe H., Metze D., Nashan D., Huber M., Hohl D., Longley M. A., Rothnagel J. A., Roop D. R., 1997/03. Journal of Investigative Dermatology, 108 (3) pp. 357-61.
 
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex
Smith F. J., Corden L. D., Rugg E. L., Ratnavel R., Leigh I. M., Moss C., Tidman M. J., Hohl D., Huber M., Kunkeler L. et al., 1997/02. Journal of Investigative Dermatology, 108 (2) pp. 220-3.
 
Specificity of B.C1 for TGK after renaturation prior to transfer of proteins
Hohl D., Rettler I., Huber M., 1996/04. Journal of Investigative Dermatology, 106 (4) pp. 801-3.
 
Lamellar ichthyosis is genetically heterogeneous--cases with normal keratinocyte transglutaminase
Huber M., Rettler I., Bernasconi K., Wyss M., Hohl D., 1995/11. Journal of Investigative Dermatology, 105 (5) pp. 653-4.
 
The small proline-rich proteins constitute a multigene family of differentially regulated cornified cell envelope precursor proteins
Hohl D., de Viragh P. A., Amiguet-Barras F., Gibbs S., Backendorf C., Huber M., 1995/06. Journal of Investigative Dermatology, 104 (6) pp. 902-9.
 
Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma
Rothnagel J. A., Wojcik S., Liefer K. M., Dominey A. M., Huber M., Hohl D., Roop D. R., 1995/03. Journal of Investigative Dermatology, 104 (3) pp. 430-3.
 
Mutations of keratinocyte transglutaminase in lamellar ichthyosis
Huber M., Rettler I., Bernasconi K., Frenk E., Lavrijsen S. P., Ponec M., Bon A., Lautenschlager S., Schorderet D. F., Hohl D., 1995/01. Science, 267 (5197) pp. 525-8.
 
Involucrin mRNA is more abundant in human hair follicles than in normal epidermis
de Viragh P. A., Huber M., Hohl D., 1994/12. Journal of Investigative Dermatology, 103 (6) pp. 815-9.
 
Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens
Rothnagel J. A., Traupe H., Wojcik S., Huber M., Hohl D., Pittelkow M. R., Saeki H., Ishibashi Y., Roop D. R., 1994/08. Nature Genetics, 7 (4) pp. 485-90.
 
Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations.
Huber M., Scaletta C., Benathan M., Frenk E., Greenhalgh D.A., Rothnagel J.A., Roop D.R., Hohl D., 1994/05. Journal of Investigative Dermatology, 102 (5) pp. 691-694. Peer-reviewed.
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis
Rothnagel J. A., Fisher M. P., Axtell S. M., Pittelkow M. R., Anton-Lamprecht I., Huber M., Hohl D., Roop D. R., 1993/12. Human Molecular Genetics, 2 (12) pp. 2147-50.
 
Expression patterns of loricrin in various species and tissues
Hohl D., Ruf Olano B., de Viragh P. A., Huber M., Detrisac C. J., Schnyder U. W., Roop D. R., 1993/08. Differentiation, 54 (1) pp. 25-34.
 
Analysis of the cornified cell envelope in lamellar ichthyosis
Hohl D., Huber M., Frenk E., 1993/05. Archives of Dermatology, 129 (5) pp. 618-24.
 
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis
Rothnagel J. A., Dominey A. M., Dempsey L. D., Longley M. A., Greenhalgh D. A., Gagne T. A., Huber M., Frenk E., Hohl D., Roop D. R., 1992/08. Science, 257 (5073) pp. 1128-30.
 
Stabilization of the oxy form of tyrosinase by a single conservative amino acid substitution
Jackman M. P., Huber M., Hajnal A., Lerch K., 1992/03. Biochemical Journal, 282 (3) pp. 915-918.
 
Malaria parasite chitinase and penetration of the mosquito peritrophic membrane
Huber M., Cabib E., Miller L. H., 1991/04. Proceedings of the National Academy of Sciences of the United States of America, 88 (7) pp. 2807-10.
 
The peritrophic membrane as a barrier: its penetration by Plasmodium gallinaceum and the effect of a monoclonal antibody to ookinetes
Sieber K. P., Huber M., Kaslow D., Banks S. M., Torii M., Aikawa M., Miller L. H., 1991/02. Experimental Parasitology, 72 (2) pp. 145-56.
 
Identification of two histidines as copper ligands in Streptomyces glaucescens tyrosinase
Huber M., Lerch K., 1988/07. Biochemistry, 27 (15) pp. 5610-5.
 
The promoter of the Streptomyces glaucescens mel operon
Huber M., Hutter R., Lerch K., 1987/10. Nucleic Acids Research, 15 (19) p. 8106.
 
The influence of copper on the induction of tyrosinase and laccase in Neurospora crassa
Huber M., Lerch K., 1987/07. FEBS Letters, 219 (2) pp. 335-8.
 
Primary structure of tyrosinase from Streptomyces glaucescens
Huber M., Hintermann G., Lerch K., 1985/10. Biochemistry, 24 (22) pp. 6038-44.
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