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Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs non-Herlitz phenotypes.
- Published in:
- Human Genetics, 2002, v. 110, n. 1, p. 41, doi. 10.1007/s00439-001-0630-1
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- Publication type:
- Article
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
- Published in:
- Human Genetics, 2001, v. 109, n. 3, p. 356, doi. 10.1007/s004390100582
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- Publication type:
- Article
The spectrum of mutations in erythrokeratodermias – novel and de novo mutations in GJB3.
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- Human Genetics, 2000, v. 106, n. 3, p. 321, doi. 10.1007/s004390051045
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- Publication type:
- Article
Development of the BioHybrid Assay: Combining Primary Human Vascular Smooth Muscle Cells and Blood to Measure Vascular Calcification Propensity.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 8, p. 2097, doi. 10.3390/cells10082097
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- Publication type:
- Article
Metastasis-associated protein (MTA)1 enhances migration, invasion, and anchorage-independent survival of immortalized human keratinocytes.
- Published in:
- Oncogene, 2002, v. 21, n. 14, p. 2161, doi. 10.1038/sj.onc.1205277
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- Publication type:
- Article
Smad3/AP-1 interactions control transcriptional responses to TGF-β in a promoter-specific manner.
- Published in:
- Oncogene, 2001, v. 20, n. 26, p. 3332, doi. 10.1038/sj.onc.1204448
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- Publication type:
- Article
Cooperation between SMAD and NF-κB in growth factor regulated type VII collagen gene expression.
- Published in:
- Oncogene, 1999, v. 18, n. 10, p. 1837, doi. 10.1038/sj.onc.1202495
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- Publication type:
- Article
Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers???
- Published in:
- 2011
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- Publication type:
- Journal Article
Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers–Danlos ...
- Published in:
- Rheumatology, 2011, v. 50, n. 6, p. 1169, doi. 10.1093/rheumatology/ker140
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- Publication type:
- Article
Expression of transforming growth factor-β after different non-invasive facial rejuvenation modalities.
- Published in:
- International Journal of Dermatology, 2015, v. 54, n. 4, p. 396, doi. 10.1111/ijd.12435
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- Publication type:
- Article
Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes.
- Published in:
- International Journal of Dermatology, 2014, v. 53, n. 6, p. 692, doi. 10.1111/ijd.12008
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- Publication type:
- Article
Efficacy of mesotherapy in facial rejuvenation: a histological and immunohistochemical evaluation.
- Published in:
- International Journal of Dermatology, 2012, v. 51, n. 8, p. 913, doi. 10.1111/j.1365-4632.2011.05184.x
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- Publication type:
- Article
Development of diffuse fasciitis with eosinophilia during L-tryptophan treatment: demonstration of elevated type I collagen gene expression in affected tissues. A clinicopathologic study of four patients.
- Published in:
- 1990
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- Publication type:
- journal article
Biochemister of Collagen in Diseases.
- Published in:
- Annals of Internal Medicine, 1986, v. 105, n. 5, p. 740, doi. 10.7326/0003-4819-105-5-740
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- Publication type:
- Article
Inherited Interleukin 2–Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
- Published in:
- Clinical Infectious Diseases, 2019, v. 68, n. 11, p. 1938, doi. 10.1093/cid/ciy942
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- Publication type:
- Article
Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.
- Published in:
- 2019
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- Publication type:
- journal article
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.
- Published in:
- Molecular Diagnosis & Therapy, 2020, v. 24, n. 3, p. 299, doi. 10.1007/s40291-020-00466-7
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- Publication type:
- Article
Weighing the Evidence for the Roles of Plasma Versus Local Pyrophosphate in Ectopic Calcification Disorders.
- Published in:
- Journal of Bone & Mineral Research, 2023, v. 38, n. 4, p. 457, doi. 10.1002/jbmr.4791
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- Publication type:
- Article
Glucose Transporters of Rat Peripheral Nerve.
- Published in:
- Diabetes, 1992, v. 41, n. 12, p. 1587, doi. 10.2337/diab.41.12.1587
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- Publication type:
- Article
Increased matrix gene expression by glucose in rat neural connective tissue cells in culture.
- Published in:
- 1991
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- Publication type:
- journal article
Advocacy groups as research organizations: the PXE International example.
- Published in:
- 2007
- By:
- Publication type:
- research
Topical Application of Recombinant Type VII Collagen Incorporates Into the Dermal-Epidermal Junction and Promotes Wound Closure.
- Published in:
- Molecular Therapy, 2013, v. 21, n. 7, p. 1335, doi. 10.1038/mt.2013.87
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- Publication type:
- Article
Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier.
- Published in:
- Journal of Cell Biology, 2007, v. 179, n. 7, p. 1599, doi. 10.1083/jcb.200706187
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- Publication type:
- Article
T‐cell activation and bacterial infection in skin wounds of recessive dystrophic epidermolysis bullosa patients.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 9, p. 1431, doi. 10.1111/exd.14615
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- Publication type:
- Article
INZ‐701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6<sup>−/−</sup> mouse model of pseudoxanthoma elasticum.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 7, p. 1095, doi. 10.1111/exd.14587
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- Publication type:
- Article
Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN‐VI).
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 6, p. 949, doi. 10.1111/exd.14562
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- Publication type:
- Article
Whole‐transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late‐onset segmental Darier disease.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 6, p. 943, doi. 10.1111/exd.14559
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- Publication type:
- Article
Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non‐syndromic basal cell carcinomas: The paradigm of oncogenic synergy.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 5, p. 736, doi. 10.1111/exd.14510
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- Publication type:
- Article
Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.
- Published in:
- Experimental Dermatology, 2022, v. 31, n. 4, p. 548, doi. 10.1111/exd.14498
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- Publication type:
- Article
A phytic acid analogue INS‐3001 prevents ectopic calcification in an Abcc6<sup>−/−</sup> mouse model of pseudoxanthoma elasticum.
- Published in:
- Experimental Dermatology, 2021, v. 30, n. 6, p. 853, doi. 10.1111/exd.14288
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- Publication type:
- Article
Keloid disorder: Fibroblast differentiation and gene expression profile in fibrotic skin diseases.
- Published in:
- Experimental Dermatology, 2021, v. 30, n. 1, p. 132, doi. 10.1111/exd.14243
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- Publication type:
- Article
Increased level of cathelicidin (LL‐37) in vitiligo: Possible pathway independent from vitamin D receptor gene polymorphism.
- Published in:
- Experimental Dermatology, 2020, v. 29, n. 12, p. 1176, doi. 10.1111/exd.14200
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- Publication type:
- Article
The matriptase-prostasin proteolytic cascade in dermatologic diseases.
- Published in:
- Experimental Dermatology, 2020, v. 29, n. 7, p. 580, doi. 10.1111/exd.14104
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- Publication type:
- Article
Linear basal cell nevus with a novel mosaic PTCH1 mutation.
- Published in:
- Experimental Dermatology, 2020, v. 29, n. 6, p. 531, doi. 10.1111/exd.14101
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- Publication type:
- Article
Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1118, doi. 10.1111/exd.13501
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- Publication type:
- Article
Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
- Published in:
- Experimental Dermatology, 2016, v. 25, n. 1, p. 17, doi. 10.1111/exd.12826
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- Publication type:
- Article
Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 3, p. 220, doi. 10.1111/exd.12620
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- Publication type:
- Article
The complexity of elastic fibre biogenesis in the skin - a perspective to the clinical heterogeneity of cutis laxa.
- Published in:
- Experimental Dermatology, 2013, v. 22, n. 2, p. 88, doi. 10.1111/exd.12025
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- Publication type:
- Article
Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6<sup> −/−</sup> ).
- Published in:
- Experimental Dermatology, 2012, v. 21, n. 9, p. 694, doi. 10.1111/j.1600-0625.2012.01553.x
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- Publication type:
- Article
Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis.
- Published in:
- Experimental Dermatology, 2012, v. 21, n. 7, p. 554, doi. 10.1111/j.1600-0625.2012.01524.x
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- Publication type:
- Article
Expression of the Abca-subfamily of genes in Abcc6.
- Published in:
- Experimental Dermatology, 2011, v. 20, n. 5, p. 452, doi. 10.1111/j.1600-0625.2010.01240.x
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- Publication type:
- Article
Extracellular matrix in cutaneous ageing: the effects of 0.1% copper–zinc malonate-containing cream on elastin biosynthesis.
- Published in:
- Experimental Dermatology, 2009, v. 18, n. 3, p. 205, doi. 10.1111/j.1600-0625.2008.00783.x
- By:
- Publication type:
- Article
Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
- Published in:
- Experimental Dermatology, 2009, v. 18, n. 1, p. 1, doi. 10.1111/j.1600-0625.2008.00795.x
- By:
- Publication type:
- Article
Fibulin-5 accelerates elastic fibre assembly in human skin fibroblasts.
- Published in:
- Experimental Dermatology, 2008, v. 17, n. 10, p. 837, doi. 10.1111/j.1600-0625.2008.00709.x
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- Publication type:
- Article
Ectopic mineralization of connective tissue in Abcc6<sup> –/–</sup> mice: effects of dietary modifications and a phosphate binder – a preliminary study.
- Published in:
- Experimental Dermatology, 2008, v. 17, n. 3, p. 203, doi. 10.1111/j.1600-0625.2007.00645.x
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- Publication type:
- Article
Targeted ablation of Abcc1 or Abcc3 in Abcc6<sup><sup>−/−</sup></sup> mice does not modify the ectopic mineralization process.
- Published in:
- Experimental Dermatology, 2007, v. 16, n. 10, p. 853, doi. 10.1111/j.1600-0625.2007.00621.x
- By:
- Publication type:
- Article
Anchorless keratinocyte survival: an emerging pathogenic mechanism for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa.
- Published in:
- Experimental Dermatology, 2007, v. 16, n. 6, p. 465, doi. 10.1111/j.1600-0625.2007.00563.x
- By:
- Publication type:
- Article
Demonstration of cellular retinoic acid binding protein in cultured human skin fibroblasts.
- Published in:
- 1985
- By:
- Publication type:
- Essay
Epidermolysis Bullosa, Pyloric Atresia, and Obstructive Uropathy: A Report of Two Case Reports with Molecular Correlation and Clinical Management.
- Published in:
- Pediatric Dermatology, 2000, v. 17, n. 4, p. 286, doi. 10.1046/j.1525-1470.2000.01776.x
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- Publication type:
- Article