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I. Hausser · SciRah

Researcher profile · Semantic Scholar

I. Hausser

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I. Hausser — researcher profile on SciRah

h-index: 52
Works: 198
Citations: 8,890

Most-cited papers

Integrin α3 Mutations with Kidney, Lung, and Skin Disease
C. Has, G. Spartà, D. Kiritsi, L. Weibel +13 more
2012New England Journal of Medicine221 citations Open access
Semantic Scholar
Keratin 1 maintains skin integrity and participates in an inflammatory network in skin through interleukin-18
Wera Roth, Vinod Kumar, H. Beer, Miriam Richter +12 more
2012Journal of Cell Science171 citations Open access
Semantic Scholar
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length.
K. Eckl, R. Tidhar, H. Thiele, V. Oji +14 more
2013Journal of Investigative Dermatology151 citations Open access
Semantic Scholar
ClpV recycles VipA/VipB tubules and prevents non‐productive tubule formation to ensure efficient type VI protein secretion
Nicole Kapitein, Gabriele Bönemann, A. Pietrosiuk, F. Seyffer +3 more
2013Molecular Microbiology137 citations Open access
Semantic Scholar
Aloxe3 knockout mice reveal a function of epidermal lipoxygenase-3 as hepoxilin synthase and its pivotal role in barrier formation.
P. Krieg, S. Rosenberger, Silvia de Juanes, S. Latzko +8 more
2013Journal of Investigative Dermatology135 citations Open access
Semantic Scholar
New insights into the pathogenesis of autosomal dominant cutis laxa with report of five ELN mutations
B. Callewaert, M. Renard, V. Hucthagowder, B. Albrecht +11 more
2011Human Mutation128 citations Open access
Semantic Scholar
ECM1 Prevents Activation of Transforming Growth Factor beta, Hepatic Stellate Cells, and Fibrogenesis in Mice.
Wei-Guo Fan, Tian-Hui Liu, Wen Chen, Seddik Hammad +28 more
2019Gastroenterology121 citations Open access
Semantic Scholar
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
F. Malfait, A. Kariminejad, T. Van Damme, C. Gauché +13 more
2013American Journal of Human Genetics121 citations Open access
Semantic Scholar
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.
D. Blaydon, D. Nitoiu, K. Eckl, Rita M. Cabral +10 more
2011American Journal of Human Genetics115 citations Open access
Semantic Scholar
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
T. Van Damme, T. Gardeitchik, M. Mohamed, Sergio Guerrero‐Castillo +37 more
2017American Journal of Human Genetics101 citations Open access
Semantic Scholar
Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing
J. Bonafont, Á. Mencía, Marta García, Raúl Torres +11 more
2019Molecular Therapy100 citations Open access
Semantic Scholar
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
Yinghong He, Kristin Maier, J. Leppert, I. Hausser +12 more
2016American Journal of Human Genetics91 citations Open access
Semantic Scholar
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
L. Heinz, Gwang-Jin Kim, S. Marrakchi, J. Christiansen +6 more
2017American Journal of Human Genetics81 citations Open access
Semantic Scholar
Expanding the keratin mutation database: novel and recurrent mutations and genotype–phenotype correlations in 28 patients with epidermolytic ichthyosis
M. Arin, V. Oji, S. Emmert, I. Hausser +3 more
2011British Journal of Dermatology80 citations
Semantic Scholar
High Local Concentrations of Intradermal MSCs Restore Skin Integrity and Facilitate Wound Healing in Dystrophic Epidermolysis Bullosa.
Tobias Kühl, Markus Mezger, I. Hausser, R. Handgretinger +2 more
2015Molecular Therapy76 citations Open access
Semantic Scholar
Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis
D. Syx, T. Van Damme, S. Symoens, M. Maiburg +8 more
2015Human Mutation69 citations Open access
Semantic Scholar
Database-augmented Mass Spectrometry Analysis of Exosomes Identifies Claudin 3 as a Putative Prostate Cancer Biomarker *
T. Worst, J. von Hardenberg, J. C. Gross, P. Erben +5 more
2017Molecular & Cellular Proteomics67 citations Open access
Semantic Scholar
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies
C. Has, T. Jakob, Yinghong He, D. Kiritsi +2 more
2015British Journal of Dermatology66 citations
Semantic Scholar
Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts.
K. Aufenvenne, F. Larcher, I. Hausser, B. Duarte +5 more
2013American Journal of Human Genetics66 citations Open access
Semantic Scholar
Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism.
D. Khnykin, J. Rønnevig, M. Johnsson, J. Sitek +4 more
2012Journal of American Academy of Dermatology62 citations
Semantic Scholar
Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations
H. Schumann, D. Kiritsi, M. Pigors, I. Hausser +9 more
2013British Journal of Dermatology60 citations
Semantic Scholar
Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes
C. Chamorro, Á. Mencía, D. Almarza, B. Duarte +6 more
2016Molecular Therapy: Nucleic Acids59 citations Open access
Semantic Scholar
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
D. Martinelli, J. Häberle, V. Rubio, C. Giunta +12 more
2012Journal of Inherited Metabolic Disease55 citations
Semantic Scholar
Familial occurrence and heritable connective tissue disorders in cervical artery dissection
S. Debette, B. Goeggel Simonetti, Sabrina Schilling, J. Martin +37 more
2014Neurology52 citations Open access
Semantic Scholar
Inter-Laboratory Comparison of Extracellular Vesicle Isolation Based on Ultracentrifugation
Adriana Torres Crigna, F. Fricke, K. Nitschke, T. Worst +9 more
2020Transfusion Medicine and Hemotherapy50 citations Open access
Semantic Scholar
QR-313, an antisense oligonucleotide, shows therapeutic efficacy for treatment of dominant and recessive dystrophic epidermolysis bullosa: a preclinical study.
O. Bornert, M. Hogervorst, P. Nauroy, J. Bischof +15 more
2020Journal of Investigative Dermatology49 citations Open access
Semantic Scholar
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica
Wing-Lee Chan, M. Steiner, T. Witkos, J. Egerer +19 more
2018PLoS Genetics48 citations Open access
Semantic Scholar
Collagen VII Half-Life at the Dermal-Epidermal Junction Zone: Implications for Mechanisms and Therapy of Genodermatoses.
Tobias Kühl, Markus Mezger, I. Hausser, L. Guey +3 more
2016Journal of Investigative Dermatology47 citations Open access
Semantic Scholar
Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells
Á. Mencía, C. Chamorro, J. Bonafont, B. Duarte +8 more
2018Molecular Therapy: Nucleic Acids46 citations Open access
Semantic Scholar
Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta*
Uschi Lindert, M. Weis, J. Rai, F. Seeliger +5 more
2015Journal of Biological Chemistry40 citations Open access
Semantic Scholar
Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
P. Kirchmeier, E. Sayar, A. Hotz, I. Hausser +4 more
2014British Journal of Dermatology39 citations
Semantic Scholar
S1 guidelines for the diagnosis and treatment of ichthyoses – update
V. Oji, Marie-Luise Preil, Barbara Kleinow, G. Wehr +19 more
2017Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG38 citations Open access
Semantic Scholar
TGFBR2-dependent alterations of exosomal cargo and functions in DNA mismatch repair-deficient HCT116 colorectal cancer cells
F. Fricke, Jennifer Lee, Malwina Michalak, U. Warnken +6 more
2017Cell Communication and Signaling36 citations Open access
Semantic Scholar
Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile
A. M. Perusquía-Ortiz, V. Oji, M. Sauerland, T. Tarinski +6 more
2013Journal of the European Academy of Dermatology and Venereology36 citations
Semantic Scholar
Copy number variation in patients with cervical artery dissection
C. Grond-Ginsbach, Bo-Wang Chen, R. Pjontek, T. Wiest +13 more
2012European Journal of Human Genetics35 citations Open access
Semantic Scholar
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities
R. Kretz, B. Bozorgmehr, M. Kariminejad, M. Rohrbach +6 more
2011Journal of Inherited Metabolic Disease35 citations Open access
Semantic Scholar
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis
A. Hotz, E. Bourrat, J. Küsel, V. Oji +7 more
2018Human Mutation33 citations Open access
Semantic Scholar
Recurrence of cervical artery dissection
M. Kloss, C. Grond-Ginsbach, P. Ringleb, I. Hausser +2 more
2018Neurology31 citations
Semantic Scholar
Prohibitin, STAT3 and SH2D4A physically and functionally interact in tumor cell mitochondria
C. Ploeger, Thorben Huth, Raisatun N. Sugiyanto, S. Pusch +7 more
2020Cell Death and Disease30 citations Open access
Semantic Scholar
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function
A. Zimmer, Gwang-Jin Kim, A. Hotz, E. Bourrat +13 more
2017British Journal of Dermatology30 citations
Semantic Scholar
pdx1 Knockout Leads to a Diabetic Nephropathy-Like Phenotype in Zebrafish and Identifies Phosphatidylethanolamine as Metabolite Promoting Early Diabetic Kidney Damage.
L. M. Wiggenhauser, Lena Metzger, Katrin Bennewitz, Silas Soleymani +10 more
2022Diabetes29 citations
Semantic Scholar
Accumulation of acetaldehyde in aldh2.1−/− zebrafish causes increased retinal angiogenesis and impaired glucose metabolism
D. P. Wohlfart, B. Lou, Chiara Simone Middel, Jakob Morgenstern +8 more
2022Redox Biology28 citations Open access
Semantic Scholar
Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review
B. Doolan, M. Lavallee, I. Hausser, J. Schubart +4 more
2023Frontiers in Medicine27 citations Open access
Semantic Scholar
Reduced Acrolein Detoxification in akr1a1a Zebrafish Mutants Causes Impaired Insulin Receptor Signaling and Microvascular Alterations
Hao-Zhe Qi, Felix Schmöhl, Xiao-Gang Li, Xin-yu Qian +11 more
2021Advancement of science24 citations Open access
Semantic Scholar
SILAC-Based Quantification of TGFBR2-Regulated Protein Expression in Extracellular Vesicles of Microsatellite Unstable Colorectal Cancers
F. Fricke, Malwina Michalak, U. Warnken, I. Hausser +3 more
2019International Journal of Molecular Sciences23 citations Open access
Semantic Scholar
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome
Pei-Jin Lim, Uschi Lindert, L. Opitz, I. Hausser +2 more
2019Genes22 citations Open access
Semantic Scholar
TGFBR2‑dependent alterations of microRNA profiles in extracellular vesicles and parental colorectal cancer cells.
F. Fricke, V. Mussack, Dominik Buschmann, I. Hausser +3 more
2019International Journal of Oncology21 citations Open access
Semantic Scholar
Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome
Julian Trah, C. Has, I. Hausser, H. Kutzner +2 more
2018Dermatologic Therapy19 citations Open access
Semantic Scholar
Increased Prevalence of Filaggrin Deficiency in 51 Patients with Recessive X-Linked Ichthyosis Presenting for Dermatological Examination.
K. Süßmuth, R. Gruber, E. Rodriguez, H. Traupe +11 more
2017Journal of Investigative Dermatology19 citations Open access
Semantic Scholar
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
N. Ballin, A. Hotz, E. Bourrat, J. Küsel +19 more
2019Human Mutation18 citations Open access
Semantic Scholar

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