|
1
|
Youssefian L, Vahidnezhad H and Uitto J:
Kindler Syndrome In: GeneReviews((R)). Adam MP and Pagon RA (eds),
Seattle, WA, pp1-19, 2016.
|
|
2
|
Kindler T: Congenital poikiloderma with
traumatic bulla formation and progressive cutaneous atrophy. Br J
Dermatol. 66:104–111. 1954.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Rickham PP: Human experimentation Code of
ethics of the world medical association. Declaration of helsinki.
Br Med J. 2(177)1964.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al:
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. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Estrada-Rivadeneyra D: Sanger sequencing.
FEBS J. 284(4174)2017.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Jobard F, Bouadjar B, Caux F, Hadj-Rabia
S, Has C, Matsuda F, Weissenbach J, Lathrop M, Prud'homme JF and
Fischer J: Identification of mutations in a new gene encoding a
FERM family protein with a pleckstrin homology domain in kindler
syndrome. Hum Mol Genet. 12:925–935. 2003.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Mansur AT, Elcioglu NH, Aydingöz IE,
Akkaya AD, Serdar ZA, Herz C, Bruckner-Tuderman L and Has C: Novel
and recurrent KIND1 mutations in two patients with kindler syndrome
and severe mucosal involvement. Acta Derm Venereol. 87:563–565.
2007.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Fuchs-Telem D, Nousbeck J, Singer A,
McGrath JA, Sarig O and Sprecher E: New intragenic and promoter
region deletion mutations in FERMT1 underscore genetic homogeneity
in kindler syndrome. Clin Exp Dermatol. 39:361–367. 2014.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Lai-Cheong JE, Tanaka A, Hawche G, Emanuel
P, Maari C, Taskesen M, Akdeniz S, Liu L and McGrath JA: Kindler
syndrome: A focal adhesion genodermatosis. Br J Dermatol.
160:233–242. 2009.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Kacar N, Semerci N, Ergin S, Pascucci M,
Zambruno G and Castiglia D: A novel frameshift mutation in the
KIND1 gene in Turkish siblings with kindler syndrome. Br J
Dermatol. 158:1375–1377. 2008.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Has C, Yordanova I, Balabanova M,
Kazandjieva J, Herz C, Kohlhase J and Bruckner-Tuderman L: A novel
large FERMT1 (KIND1) gene deletion in kindler syndrome. J Dermatol
Sci. 52:209–212. 2008.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Kartal D, Borlu M, Has C and Fölster-Holst
R: A novel mutation in the fermt1 gene in Turkish siblings with
kindler syndrome. J Eur Acad Dermatol Venereol. 30:1233–1235.
2016.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Roda Â, Travassos AR, Soares-de-Almeida L
and Has C: Kindler syndrome in a patient with colitis and primary
sclerosing cholangitis: Coincidence or association? Dermatol Online
J 24: 2018.
|
|
14
|
Zhou C, Song S and Zhang J: A novel
3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese
family with kindler syndrome. Br J Dermatol. 160:1119–1122.
2009.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Fukushi R, Tsuboi R, Maeda T, Kanda Y,
Sakai N, Suzuki S and Harada K: A case of kindler syndrome in a
young Indian female with exon deletion. Int J Dermatol. 58:e19–e21.
2019.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Herz C, Aumailley M, Schulte C,
Schlotzer-Schrehardt U, Bruckner-Tuderman L and Has C: Kindlin-1 is
a phosphoprotein involved in regulation of polarity, proliferation,
and motility of epidermal keratinocytes. J Biol Chem.
281:36082–36090. 2006.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Oh SJ, Kim SE, Lee SE and Kim SC:
Homozygous deletion mutation of the fermt1 gene in a Chinese
patient with kindler syndrome. Ann Dermatol. 28:503–505.
2016.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Gao Y, Bai JL, Liu XY, Qu YJ, Cao YY, Wang
JC, Jin YW, Wang H and Song F: A novel large deletion mutation of
FERMT1 gene in a Chinese patient with Kindler syndrome. J Zhejiang
Univ Sci B. 16:957–962. 2015.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Zheng BW, Zhu XZ, Lan Y, Ma JC and Li XQ:
Unique variants in the FLG gene and FERMT1 gene in a chinese
patient with ichthyosis and kindler syndrome. JAAD Case Rep.
5:1061–1064. 2019.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Youssefian L, Vahidnezhad H, Barzegar M,
Li Q, Sotoudeh S, Yazdanfar A, Ehsani AH, Kajbafzadeh AM, Mozafari
N, Daryani NE, et al: The kindler syndrome: A spectrum of FERMT1
mutations in Iranian families. J Invest Dermatol. 135:1447–1450.
2015.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Kubo A: Nagashima-type palmoplantar
keratosis: A common Asian type caused by SERPINB7 protease
inhibitor deficiency. J Invest Dermatol. 134:2076–2079.
2014.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Techanukul T, Sethuraman G, Zlotogorski A,
Horev L, Macarov M, Trainer A, Fong K, Lens M, Medenica L, Ramesh
V, et al: Novel and recurrent FERMT1 gene mutations in kindler
syndrome. Acta Derm-Venereol. 91:267–270. 2011.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Has C, Herz C, Zimina E, Qu HY, He Y,
Zhang ZG, Wen TT, Gache Y, Aumailley M and Bruckner-Tuderman L:
Kindlin-1 is required for RhoGTPase-mediated lamellipodia formation
in keratinocytes. Am J Pathol. 175:1442–1452. 2009.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Kiritsi D, He Y, Pasmooij AM, Onder M,
Happle R, Jonkman MF, Bruckner-Tuderman L and Has C: Revertant
mosaicism in a human skin fragility disorder results from slipped
mispairing and mitotic recombination. J Clin Invest. 122:1742–1746.
2012.PubMed/NCBI View
Article : Google Scholar
|
|
25
|
Kern JS, Herz C, Haan E, Moore D,
Nottelmann S, von Lilien T, Greiner P, Schmitt-Graeff A, Opitz OG,
Bruckner-Tuderman L and Has C: Chronic colitis due to an epithelial
barrier defect: The role of kindlin-1 isoforms. J Pathol.
213:462–470. 2007.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Lai-Cheong JE, Moss C, Parsons M, Almaani
N and McGrath JA: Revertant mosaicism in kindler syndrome. J Invest
Dermatol. 132:730–732. 2012.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Ashton GH, McLean WH, South AP, Oyama N,
Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh
IM, 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.
122:78–83. 2004.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Martignago BC, Lai-Cheong JE, Liu L,
McGrath JA and Cestari TF: Recurrent KIND1 (C20orf42) gene
mutation, c.676insC, in a Brazilian pedigree with kindler syndrome.
Br J Dermatol. 157:1281–1284. 2007.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Shaiq PA, Klausegger A, Muzaffar F, Bauer
JW, Khan MI, Khanum A, Qamar R and Raja GK: Founder mutation
c.676insC in three unrelated kindler syndrome families belonging to
a particular clan from Pakistan. J Dermatol. 39:640–641.
2012.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Thomson MA, Ashton GH, McGrath JA, Eady RA
and Moss C: Retrospective diagnosis of kindler syndrome in a
37-year-old man. Clin Exp Dermatol. 31:45–47. 2006.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Gkaitatzi M, Kalloniati E, Has C, Kiritsi
D, Spiliopoulos T and Georgiou S: Kindler syndrome: A rare case
report from Greece. Oxf Med Case Rep. 2019(omz003)2019.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Has C, Wessagowit V, Pascucci M, Baer C,
Didona B, Wilhelm C, Pedicelli C, Locatelli A, Kohlhase J, Ashton
GH, 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.
126:1776–1783. 2006.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Has C and Bruckner-Tuderman L: A novel
nonsense mutation in kindler syndrome. J Invest Dermatol.
122:84–86. 2004.PubMed/NCBI View Article : Google Scholar
|
|
34
|
de Almeida Jr HL, Heckler GT, Fong K,
Lai-Cheong J and McGrath J: Sporadic Kindler syndrome with a novel
mutation. An Bras Dermatol. 88 (Suppl 1):S212–S215. 2013.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Has C, Burger B, Volz A, Kohlhase J,
Bruckner-Tuderman L and Itin P: Mild clinical phenotype of kindler
syndrome associated with late diagnosis and skin cancer.
Dermatology. 221:309–312. 2010.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Fassihi H, Wessagowit V, Jones C,
Dopping-Hepenstal P, Denyer J, Mellerio JE, Clark S and McGrath JA:
Neonatal diagnosis of Kindler syndrome. J Dermatol Sci. 39:183–185.
2005.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Diociaiuti A, Zambruno G, Giancristoforo
S, Proto V, Boldrini R, Castiglia D and El Hachem M: Acral skin
atrophy in an infant: An early clue to Kindler syndrome diagnosis.
J Eur Acad Dermatol Venereol. 30:1046–1049. 2016.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Siegel DH, Ashton GH, Penagos HG, Lee JV,
Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR,
Wessagowit V, 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 Human Genet. 73:174–187.
2003.PubMed/NCBI View
Article : Google Scholar
|
|
39
|
Wada M, Masuda K, Tsuruta D, Tamai K,
Lai-Cheong JE, McGrath JA and Katoh N: Case of kindler syndrome
resulting from mutation in the FERMT1 gene. J Dermatol.
39:1057–1058. 2012.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Natsuga K, Nishie W, Shinkuma S, Nakamura
H, Matsushima Y, Tatsuta A, Komine M and Shimizu H: Expression of
exon-8-skipped kindlin-1 does not compensate for defects of kindler
syndrome. J Dermatol. 61:38–44. 2011.PubMed/NCBI View Article : Google Scholar
|
|
41
|
Yildirim TT, Kaya FA, Taskesen M, Dündar
S, Bozoglan A, Tekin GG and Akdeniz S: Aggressive periodontitis
associated with kindler syndrome in a large kindler syndrome
pedigree. Turk J Pediatr. 59:56–61. 2017.PubMed/NCBI View Article : Google Scholar
|
