Associated Papers
Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.
Ghorbanpour A et al.
Molecular Medicine (cambridge, Mass.), 2026
Clinical and genomic features of Iranian patients with very early onset IBD.
Haghipanah M et al.
Pediatric Research, 2026
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Kindler syndrome with a novel mutation and gynaecological complication.
Tanigassalame P et al.
Clinical and Experimental Dermatology, 2024
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Two novel mutations in KIND1 in Indian patients with Kindler syndrome.
Kantheti P et al.
Clinical and Experimental Dermatology, 2017
Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.
Ashton JJ et al.
Inflammatory Bowel Diseases, 2016
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Kindlin-1 controls Wnt and TGF-β availability to regulate cutaneous stem cell proliferation.
Rognoni E et al.
Nature Medicine, 2014
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
[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
Five new homozygous mutations in the KIND1 gene in Kindler syndrome.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
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
Kindler syndrome: a new mutation and new diagnostic possibilities.
Burch JM et al.
Archives of 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
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
Siegel DH et al.
American Journal of Human Genetics, 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