Associated Papers
Kindler syndrome with a novel mutation and gynaecological complication.
Tanigassalame P et al.
Clinical and Experimental Dermatology, 2024
A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome.
Meng L et al.
Experimental and Therapeutic Medicine, 2020
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
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.
Yıldırım TT et al.
The Turkish Journal of Pediatrics, 2017
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.
Has C et al.
Human Mutation, 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
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
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
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
A novel nonsense mutation in Kindler syndrome.
Has C et al.
The Journal of Investigative Dermatology, 2004
Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder.
Lanschuetzer CM et al.
Journal of Cutaneous Pathology, 2003
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