Found: 30
Select item for more details and to access through your institution.
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Multiple Skin Squamous Cell Carcinomas in Junctional Epidermolysis Bullosa Due to Altered Laminin-332 Function.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1426, doi. 10.3390/ijms21041426
- By:
- Publication type:
- Article
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1061, doi. 10.1007/s00439-021-02274-3
- By:
- Publication type:
- Article
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 5, p. 311, doi. 10.1038/jhg.2012.22
- By:
- Publication type:
- Article
Intracellular targets of RGDS peptide in melanoma cells.
- Published in:
- Molecular Cancer, 2010, v. 9, p. 84, doi. 10.1186/1476-4598-9-84
- By:
- Publication type:
- Article
A compound synonymous mutation c.474G>A with p.Arg578X mutation in SPINK5 causes splicing disorder and mild phenotype in Netherton syndrome.
- Published in:
- Experimental Dermatology, 2016, v. 25, n. 7, p. 568, doi. 10.1111/exd.13011
- By:
- Publication type:
- Article
Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 4, p. 314, doi. 10.1111/exd.12657
- By:
- Publication type:
- Article
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 2, p. 114, doi. 10.1111/exd.12593
- By:
- Publication type:
- Article
Antigenicity and immunogenicity of phage library-selected peptide mimics of the major surface proteophosphoglycan antigens of Entamoeba histolytica.
- Published in:
- Parasite Immunology, 2002, v. 24, n. 6, p. 321, doi. 10.1046/j.1365-3024.2002.00463.x
- By:
- Publication type:
- Article
Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01378-5
- By:
- Publication type:
- Article
Early Immunopathological Diagnosis of Ichthyosis with Confetti in Two Sporadic Cases with New Mutations in Keratin 10.
- Published in:
- Acta Dermato-Venereologica, 2014, v. 94, n. 5, p. 579, doi. 10.2340/00015555-1796
- By:
- Publication type:
- Article
Long-term Follow-up of a Spontaneously Improving Patient with Junctional Epidermolysis Bull Associated with ITGB4 c.3977-19T>A Splicing Mutation.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Lethal Netherton Syndrome Due to Homozygous p. Arg371 X Mutation in SPINK5.
- Published in:
- Pediatric Dermatology, 2013, v. 30, n. 4, p. e65, doi. 10.1111/pde.12076
- By:
- Publication type:
- Article
Identification of tumor-associated antigens by screening phage-displayed human cDNA libraries with sera from tumor patients.
- Published in:
- International Journal of Cancer, 2003, v. 106, n. 4, p. 534, doi. 10.1002/ijc.11269
- By:
- Publication type:
- Article
Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.
- Published in:
- Acta Dermato-Venereologica, 2018, v. 98, n. 4, p. 411, doi. 10.2340/00015555-2851
- By:
- Publication type:
- Article
Structural Defects of Laminin β3 N-terminus Underlie Junctional Epidermolysis Bullosa with Altered Granulation Tissue Response.
- Published in:
- Acta Dermato-Venereologica, 2016, v. 96, n. 7, p. 954, doi. 10.2340/00015555-2439
- By:
- Publication type:
- Article
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
- Published in:
- Acta Dermato-Venereologica, 2015, v. 95, n. 6, p. 720, doi. 10.2340/00015555-2075
- By:
- Publication type:
- Article
Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 8, p. 2146, doi. 10.1038/jid.2014.119
- By:
- Publication type:
- Article
Proteolytic Activation Cascade of the Netherton Syndrome-Defective Protein, LEKTI, in the Epidermis: Implications for Skin Homeostasis.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 11, p. 2223, doi. 10.1038/jid.2011.174
- By:
- Publication type:
- Article
Full Sequencing of the FLG Gene in Italian Patients with Atopic Eczema: Evidence of New Mutations, but Lack of an Association.
- Published in:
- Journal of Investigative Dermatology, 2011, v. 131, n. 4, p. 982, doi. 10.1038/jid.2010.398
- By:
- Publication type:
- Article
RIPK4 regulates cell–cell adhesion in epidermal development and homeostasis.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2535, doi. 10.1093/hmg/ddac046
- By:
- Publication type:
- Article
The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 19, p. 4187, doi. 10.1093/hmg/dds243
- By:
- Publication type:
- Article
Betapapillomavirus in multiple non-melanoma skin cancers of Netherton syndrome: Case report and published work review.
- Published in:
- Journal of Dermatology, 2015, v. 42, n. 8, p. 786, doi. 10.1111/1346-8138.12913
- By:
- Publication type:
- Article
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.
- Published in:
- Human Mutation, 2019, v. 40, n. 1, p. 106, doi. 10.1002/humu.23678
- By:
- Publication type:
- Article
Exon-Specific U1s Correct SPINK 5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.
- Published in:
- Human Mutation, 2015, v. 36, n. 5, p. 504, doi. 10.1002/humu.22762
- By:
- Publication type:
- Article
A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops.
- Published in:
- Genes, 2021, v. 12, n. 5, p. 716, doi. 10.3390/genes12050716
- By:
- Publication type:
- Article
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 764, doi. 10.3390/genes10100764
- By:
- Publication type:
- Article
Systematic Review and Meta-Analysis of Dietary Interventions and Microbiome in Phenylketonuria.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17428, doi. 10.3390/ijms242417428
- By:
- Publication type:
- Article
Measles skin rash: infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis.
- Published in:
- PLoS Pathogens, 2020, v. 16, n. 10, p. 1, doi. 10.1371/journal.ppat.1008253
- By:
- Publication type:
- Article
Induction of anti-carbohydrate antibodies by phage library-selected peptide mimics.
- Published in:
- European Journal of Immunology, 1997, v. 27, n. 10, p. 2620, doi. 10.1002/eji.1830271022
- By:
- Publication type:
- Article