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Impaired Detoxification of Trans, Trans‐2,4‐Decadienal, an Oxidation Product from Omega‐6 Fatty Acids, Alters Insulin Signaling, Gluconeogenesis and Promotes Microvascular Disease.
- Published in:
- Advanced Science, 2024, v. 11, n. 4, p. 1, doi. 10.1002/advs.202302325
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- Publication type:
- Article
Multiple Arterial Dissections and Connective Tissue Abnormalities.
- Published in:
- 2022
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- Publication type:
- Case Study
pdx1 Knockout Leads to a Diabetic Nephropathy- Like Phenotype in Zebrafish and Identifies Phosphatidylethanolamine as Metabolite Promoting Early Diabetic Kidney Damage.
- Published in:
- 2022
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- Publication type:
- journal article
Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.719624
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- Publication type:
- Article
Reduced Acrolein Detoxification in akr1a1a Zebrafish Mutants Causes Impaired Insulin Receptor Signaling and Microvascular Alterations.
- Published in:
- Advanced Science, 2021, v. 8, n. 18, p. 1, doi. 10.1002/advs.202101281
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- Publication type:
- Article
Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.
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- Acta Dermato-Venereologica, 2021, v. 101, n. 9, p. 1, doi. 10.2340/00015555-3887
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- Publication type:
- Article
Inter-Laboratory Comparison of Extracellular Vesicle Isolation Based on Ultracentrifugation.
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- Transfusion Medicine & Hemotherapy, 2021, v. 48, n. 1, p. 48, doi. 10.1159/000508712
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- Publication type:
- Article
Prohibitin, STAT3 and SH2D4A physically and functionally interact in tumor cell mitochondria.
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- Cell Death & Disease, 2020, v. 11, n. 11, p. 1, doi. 10.1038/s41419-020-03220-3
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- Publication type:
- Article
Characterization of experimental diabetic neuropathy using multicontrast magnetic resonance neurography at ultra high field strength.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64585-1
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- Publication type:
- Article
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2318, doi. 10.1002/humu.23883
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- Publication type:
- Article
TGFBR2-dependent alterations of microRNA profiles in extracellular vesicles and parental colorectal cancer cells.
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- International Journal of Oncology, 2019, v. 55, n. 4, p. 925, doi. 10.3892/ijo.2019.4859
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- Publication type:
- Article
SILAC-Based Quantification of TGFBR2-Regulated Protein Expression in Extracellular Vesicles of Microsatellite Unstable Colorectal Cancers.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 17, p. 4162, doi. 10.3390/ijms20174162
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- Publication type:
- Article
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome.
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- Genes, 2019, v. 10, n. 7, p. 517, doi. 10.3390/genes10070517
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- Publication type:
- Article
Neue Therapieansätze für entzündliche und bullöse Formen kongenitaler Ichthyosen: erste klinische Erfahrungen.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2019, v. 17, p. 12, doi. 10.1111/ddg.13782
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- Publication type:
- Article
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1305, doi. 10.1002/humu.23594
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- Publication type:
- Article
Restrictive Dermopathy: Four Case Reports and Structural Skin Changes.
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- Acta Dermato-Venereologica, 2018, v. 98, n. 8, p. 807, doi. 10.2340/00015555-2970
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- Publication type:
- Article
Integra<sup>®</sup>-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome.
- Published in:
- Dermatology & Therapy, 2018, v. 8, n. 2, p. 313, doi. 10.1007/s13555-018-0237-2
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- Publication type:
- Article
Familial aortic disease and a large duplication in chromosome 16p13.1.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 441, doi. 10.1002/mgg3.371
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- Publication type:
- Article
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.
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- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007242
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- Publication type:
- Article
S1 guidelines for the diagnosis and treatment of ichthyoses - update.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2017, v. 15, n. 10, p. 1053, doi. 10.1111/ddg.13340
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- Publication type:
- Article
S1-Leitlinie zur Diagnostik und Therapie der Ichthyosen - Aktualisierung.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2017, v. 15, n. 10, p. 1053, doi. 10.1111/ddg.13340_g
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- Publication type:
- Article
Spiny Keratoderma der Hand- und Fußflächen - einmal gesehen, nie wieder vergessen.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2017, v. 15, n. 9, p. 938, doi. 10.1111/ddg.13313_g
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- Publication type:
- Article
Spiny keratoderma of the palms and soles - once seen, never forgotten.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2017, v. 15, n. 9, p. 939, doi. 10.1111/ddg.13313
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- Publication type:
- Article
TGFBR2-dependent alterations of exosomal cargo and functions in DNA mismatch repair-deficient HCT116 colorectal cancer cells.
- Published in:
- Cell Communication & Signaling, 2017, v. 15, p. 1, doi. 10.1186/s12964-017-0169-y
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- Publication type:
- Article
Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris.
- Published in:
- 2016
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- Publication type:
- Case Study
Increased Expression of Caspase-1 and Interleukin-18 in Peeling Skin Disease, and a Novel Mutation of Corneodesmosin.
- Published in:
- Acta Dermato-Venereologica, 2015, v. 95, n. 8, p. 1019, doi. 10.2340/00015555-2142
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- Publication type:
- Article
High Local Concentrations of Intradermal MSCs Restore Skin Integrity and Facilitate Wound Healing in Dystrophic Epidermolysis Bullosa.
- Published in:
- Molecular Therapy, 2015, v. 23, n. 8, p. 1368, doi. 10.1038/mt.2015.58
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- Publication type:
- Article
Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis.
- Published in:
- Human Mutation, 2015, v. 36, n. 5, p. 535, doi. 10.1002/humu.22774
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- Publication type:
- Article
Annular Atrophic Plaques on the Face in a Father and a Son: Christianson's Disease, a Real Entity?
- Published in:
- 2014
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- Publication type:
- Case Study
Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 9, p. 2202, doi. 10.1038/jid.2013.153
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- Publication type:
- Article
Rat Model for Dominant Dystrophic Epidermolysis Bullosa: Glycine Substitution Reduces Collagen VII Stability and Shows Gene-Dosage Effect
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0064243
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- Publication type:
- Article
ClpV recycles VipA/ VipB tubules and prevents non-productive tubule formation to ensure efficient type VI protein secretion.
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- Molecular Microbiology, 2013, v. 87, n. 5, p. 1013, doi. 10.1111/mmi.12147
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- Publication type:
- Article
Aloxe3 Knockout Mice Reveal a Function of Epidermal Lipoxygenase-3 as Hepoxilin Synthase and Its Pivotal Role in Barrier Formation.
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- Journal of Investigative Dermatology, 2013, v. 133, n. 1, p. 172, doi. 10.1038/jid.2012.250
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- Publication type:
- Article
Copy number variation in patients with cervical artery dissection.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1295, doi. 10.1038/ejhg.2012.82
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- Publication type:
- Article
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 761, doi. 10.1007/s10545-011-9411-8
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- Publication type:
- Article
Type 1 Segmental Galli-Galli Disease Resulting from a Previously Unreported Keratin 5 Mutation.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 8, p. 2100, doi. 10.1038/jid.2012.72
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- Publication type:
- Article
Long-Term Faithful Recapitulation of Transglutaminase 1-Deficient Lamellar Ichthyosis in a Skin-Humanized Mouse Model, and Insights from Proteomic Studies.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 7, p. 1918, doi. 10.1038/jid.2012.65
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- Publication type:
- Article
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
- Published in:
- Nature Genetics, 2012, v. 44, n. 2, p. 140, doi. 10.1038/ng.1056
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- Publication type:
- Article
Eine Familie mit dystropher Alopezie und Keratosis pilaris.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2011, v. 9, n. 12, p. 1055, doi. 10.1111/j.1610-0387.2011.07792.x
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- Publication type:
- Article
Palmoplantar Hyperkeratoses and Hypopigmentation: A Quiz.
- Published in:
- 2011
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- Publication type:
- Case Study
Congenital Ichthyosis in Severe Type II Gaucher Disease with a Homozygous Null Mutation.
- Published in:
- Neonatology (16617800), 2011, v. 100, n. 2, p. 194, doi. 10.1159/000324116
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- Publication type:
- Article
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 731, doi. 10.1007/s10545-011-9319-3
- By:
- Publication type:
- Article
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 9, p. 1811, doi. 10.1093/hmg/ddr064
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- Publication type:
- Article
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 4, p. 445, doi. 10.1002/humu.21462
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- Publication type:
- Article
Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?
- Published in:
- 2010
- By:
- Publication type:
- journal article
Recessive Epidermolytic Hyperkeratosis Caused by a Previously Unreported Termination Codon Mutation in the Keratin 10 Gene.
- Published in:
- Journal of Investigative Dermatology, 2009, v. 129, n. 11, p. 2721, doi. 10.1038/jid.2009.131
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- Publication type:
- Article
In Vitro Cutaneous Application of ISCOMs on Human Skin Enhances Delivery of Hydrophobic Model Compounds Through the Stratum Corneum.
- Published in:
- AAPS Journal, 2009, v. 11, n. 4, p. 728, doi. 10.1208/s12248-009-9149-5
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- Publication type:
- Article
Mechanisms of Fibroblast Cell Therapy for Dystrophic Epidermolysis Bullosa: High Stability of Collagen VII Favors Long-term Skin Integrity.
- Published in:
- Molecular Therapy, 2009, v. 17, n. 9, p. 1605, doi. 10.1038/mt.2009.144
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- Publication type:
- Article
Development of an Ichthyosiform Phenotype in Alox12b-Deficient Mouse Skin Transplants.
- Published in:
- Journal of Investigative Dermatology, 2009, v. 129, n. 6, p. 1429, doi. 10.1038/jid.2008.410
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- Publication type:
- Article
Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing.
- Published in:
- Journal of Investigative Dermatology, 2009, v. 129, p. 862, doi. 10.1038/jid.2008.311
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- Publication type:
- Article