Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.
Kumar A et al.
Clinical and Experimental Dermatology, 2025
Kindler syndrome with a novel mutation and gynaecological complication.
Tanigassalame P et al.
Clinical and Experimental Dermatology, 2024
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.
Baz DS et al.
Frontiers in Pediatrics, 2024
Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa.
Zevallos-Morales A et al.
Dermatology Online Journal, 2022
Characterization of Amino Acid Substitutions and Deletions in Kindlin-1 FERM Domain: Relevance for Precision Medicine.
Yilmaz P et al.
The Journal of Investigative Dermatology, 2022
Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes.
Khan FF et al.
Biomolecules, 2021
A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome.
Meng L et al.
Experimental and Therapeutic Medicine, 2020
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.
Chacón-Solano E et al.
The British Journal of Dermatology, 2019
Inhibition of cyclin-dependent kinase activity exacerbates H2 O2 -induced DNA damage in Kindler syndrome keratinocytes.
Emmert H et al.
Experimental Dermatology, 2019
Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.
Guerrero-Aspizua S et al.
Orphanet Journal of Rare Diseases, 2019
Kindlin-1 Regulates Epidermal Growth Factor Receptor Signaling.
Michael M et al.
The Journal of Investigative Dermatology, 2019
Kindler syndrome: a rare case report from Greece.
Gkaitatzi M et al.
Oxford Medical Case Reports, 2019
Kindlin-1 protects cells from oxidative damage through activation of ERK signalling.
Emmert H et al.
Free Radical Biology & Medicine, 2017
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.
Yıldırım TT et al.
The Turkish Journal of Pediatrics, 2017
Kindlin-1 Regulates Keratinocyte Electrotaxis.
Zhang G et al.
The Journal of Investigative Dermatology, 2016
A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.
Chmel N et al.
The Journal of Investigative Dermatology, 2015
Oxidative stress and mitochondrial dysfunction in Kindler syndrome.
Zapatero-Solana E et al.
Orphanet Journal of Rare Diseases, 2014
Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan.
Shaiq PA et al.
The Journal of Dermatology, 2012
Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.
Kiritsi D et al.
The Journal of Clinical Investigation, 2012
Revertant mosaicism in Kindler syndrome.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2012
Realm of revertant mosaicism expanding.
Jonkman MF et al.
The Journal of Investigative Dermatology, 2012
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Has C et al.
Human Mutation, 2011
Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
Techanukul T et al.
Acta Dermato-venereologica, 2011
Induction of phenotype modifying cytokines by FERMT1 mutations.
Heinemann A et al.
Human Mutation, 2011
Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.
Lai-Cheong JE et al.
The American Journal of Pathology, 2009
Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.
Has C et al.
The American Journal of Pathology, 2009
[Kindler syndrome. A new bullous dermatosis].
Has C
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2009
Kindler syndrome: a focal adhesion genodermatosis.
Lai-Cheong JE et al.
The British Journal of Dermatology, 2009
Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2008
A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome.
Kaçar N et al.
The British Journal of Dermatology, 2008
Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome.
Martignago BC et al.
The British Journal of Dermatology, 2007
Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms.
Kern JS et al.
The Journal of Pathology, 2007
Five new homozygous mutations in the KIND1 gene in Kindler syndrome.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement.
Mansur AT et al.
Acta Dermato-venereologica, 2007
Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes.
Herz C et al.
The Journal of Biological Chemistry, 2006
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
Has C et al.
The Journal of Investigative Dermatology, 2006
Retrospective diagnosis of Kindler syndrome in a 37-year-old man.
Thomson MA et al.
Clinical and Experimental Dermatology, 2006
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
Ashton GH et al.
The Journal of Investigative Dermatology, 2004
Kindler syndrome: report of two cases.
Mendes L et al.
Anais Brasileiros De Dermatologia, 0
Sporadic Kindler syndrome with a novel mutation.
Almeida HL et al.
Anais Brasileiros De Dermatologia, 0
Is adermatoglyphia an additional feature of Kindler Syndrome?
Almeida HL et al.
Anais Brasileiros De Dermatologia, 0
Genetic Diagnosis of Kindler Syndrome, a Rare form of Genodermatosis in a Newborn with Identification of a Nonsense Mutation, c. 328C > T, in the FERMT1 Gene in the Indian Population.
Srikumar A et al.
Indian Journal of Dermatology, 0