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Page 10 of 10               Chu et al. Rare Dis Orphan Drugs J 2023;2:2  https://dx.doi.org/10.20517/rdodj.2022.25

               6.       Ashton GH, McLean WH, South AP, et al. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the
                   autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol 2004;122:78-83.  DOI  PubMed
               7.       Herz C, Aumailley M, Schulte C, Schlötzer-Schrehardt U, Bruckner-Tuderman L, Has C. Kindlin-1 is a phosphoprotein involved in
                   regulation of polarity, proliferation, and motility of epidermal keratinocytes. J Biol Chem 2006;281:36082-90.  DOI  PubMed
               8.       Ussar S, Moser M, Widmaier M, et al. Loss of Kindlin-1 causes skin atrophy and lethal neonatal intestinal epithelial dysfunction. PLoS
                   Genet 2008;4:e1000289.  DOI  PubMed  PMC
               9.       Youssefian L, Vahidnezhad H, Barzegar M, et al. The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. J
                   Invest Dermatol 2015;135:1447-50.  DOI  PubMed
               10.      Richards S, Aziz N, Bale S, et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of
                   sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association
                   for Molecular Pathology. Genet Med 2015;17:405-24.  DOI  PubMed  PMC
               11.      Chu ATW, Fung JLF, Tong AHY, et al; Hong Kong Genome Project. Potentials and challenges of launching the pilot phase of Hong
                   Kong Genome Project. J Transl Genet Genom 2022;6:290-303.  DOI
               12.      Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE. Inherited epidermolysis bullosa: update on the clinical and genetic aspects.
                   An Bras Dermatol 2020;95:551-69.  DOI  PubMed  PMC
               13.      Burch JM, Fassihi H, Jones CA, Mengshol SC, Fitzpatrick JE, McGrath JA. Kindler syndrome: a new mutation and new diagnostic
                   possibilities. Arch Dermatol 2006;142:620-4.  DOI  PubMed
               14.      Has C, Castiglia D, del Rio M, et al. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat
                   2011;32:1204-12.  DOI  PubMed
               15.      Kantheti P, Kubba A, Prabhu A, Batrani M, Hiremagalore R. Two novel mutations in KIND1 in Indian patients with Kindler
                   syndrome. Clin Exp Dermatol 2017;42:95-7.  DOI  PubMed
               16.      Penagos H, Jaen M, Sancho MT, et al. Kindler syndrome in native Americans from Panama: report of 26 cases. Arch Dermatol
                   2004;140:939-44.  DOI  PubMed
               17.      Siegel DH, Ashton GH, Penagos HG, et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-
                   matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003;73:174-87.  DOI  PubMed  PMC
               18.      Ou M, Leung HC, Leung AW, et al. HKG: an open genetic variant database of 205 Hong Kong cantonese exomes. NAR Genom
                   Bioinform 2022;4:lqac005.  DOI  PubMed  PMC
               19.      Natsuga K, Nishie W, Shinkuma S, et al. Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler
                   syndrome. J Dermatol Sci 2011;61:38-44.  DOI
               20.      Wada M, Masuda K, Tsuruta D, et al. Case of Kindler syndrome resulting from mutation in the FERMT1 gene. J Dermatol
                   2012;39:1057-8.  DOI  PubMed
               21.      Lin Z, Tan Y, Ma Z, et al. Ultrastructure of skin lesions and mutations in the FERMT1 gene in a patient with Kindler syndrome.
                   Available from: http://www.pifukezazhi.com/CN/Y2010/V43/I10/677 [Last accessed on 23 Feb 2023].
               22.      Song D, Li Z, Liu J, Wang S. Kindler epidermolysis bullosa with pseudoainhum:a case report. Chin J Dermatovene 2022:36.  DOI
               23.      Li M, Li W, Zhu D, et al. Novel pathogenic mutations of FERMT1 in two Chinese Kindler syndrome families.  DOI
               24.      Meng L, Yang X, Wu Y, et al. A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome. Exp
                   Ther Med 2020;20:103.  DOI  PubMed  PMC
               25.      Oh SJ, Kim S-E, Lee SE, Kim S-C. Homozygous deletion mutation of the FERMT1 gene in a Chinese patient with Kindler syndrome.
                   Ann Dermatol 2016;28:503-5.  DOI  PubMed  PMC
               26.      Ohashi A, Kiniwa Y, Okuyama R, et al. A case of Kindler syndrome with severe esophageal stenosis. Int J Dermatol 2015;54:e106-8.
                   DOI  PubMed
               27.      Gao Y, Bai JL, Liu XY, et al. A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome. J
                   Zhejiang Univ Sci B 2015;16:957-62.  DOI  PubMed  PMC
               28.      Zhou C, Song S, Zhang J. A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler
                   syndrome. Br J Dermatol 2009;160:1119-22.  DOI  PubMed
               29.      Zheng BW, Zhu XZ, Lan Y, Ma JC, Li XQ. Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis
                   and Kindler syndrome. JAAD Case Rep 2019;5:1061-4.  DOI  PubMed  PMC
               30.      Martignago BC, Lai-Cheong JE, Liu L, McGrath JA, Cestari TF. Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a
                   Brazilian pedigree with Kindler syndrome. Br J Dermatol 2007;157:1281-4.  DOI  PubMed
               31.      Techanukul T, Sethuraman G, Zlotogorski A, et al. Novel and recurrent FERMT1 gene mutations in Kindler syndrome. Acta Derm
                   Venereol 2011;91:267-70.  DOI  PubMed
               32.      Has C, Herz C, Zimina E, et al. Kindlin-1 is required for RhoGTPase-mediated lamellipodia formation in keratinocytes. Am J Pathol
                   2009;175:1442-52.  DOI  PubMed  PMC
               33.      Kern JS, Herz C, Haan E, et al. Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms. J Pathol
                   2007;213:462-70.  DOI  PubMed
               34.      Has C, Wessagowit V, Pascucci M, et al. Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination,
                   splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol 2006;126:1776-83.  DOI  PubMed
               35.      Shaiq PA, Klausegger A, Muzaffar F, et al. Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a
                   particular clan from Pakistan. J Dermatol 2012;39:640-1.  DOI  PubMed
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