Literature DB >> 25599393

The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

Leila Youssefian1, Hassan Vahidnezhad2, Mohammadreza Barzegar3, Qiaoli Li4, Soheila Sotoudeh5, Ameneh Yazdanfar6, Amir Hooshang Ehsani5, Abdol-Mohammad Kajbafzadeh5, Nikoo Mozafari3, Nasser Ebrahimi Daryani5, Farzaneh Agha-Hosseini5, Sirous Zeinali7, Jouni Uitto8.   

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Year:  2015        PMID： 25599393     DOI： 10.1038/jid.2015.9

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  16 in total

Review 1.  Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

Authors:  Cristina Has; Daniele Castiglia; Marcela del Rio; Marta Garcia Diez; Eugenia Piccinni; Dimitra Kiritsi; Jürgen Kohlhase; Peter Itin; Ludovic Martin; Judith Fischer; Giovanna Zambruno; Leena Bruckner-Tuderman
Journal:  Hum Mutat       Date:  2011-09-20       Impact factor: 4.878

2.  FERMT1 promoter mutations in patients with Kindler syndrome.

Authors:  C Has; N Chmel; L Levati; I Neri; T Sonnenwald; M Pigors; K Godbole; A Dudhbhate; L Bruckner-Tuderman; G Zambruno; D Castiglia
Journal:  Clin Genet       Date:  2014-10-07       Impact factor: 4.438

3.  Neonatal diagnosis of Kindler syndrome.

Authors:  Hiva Fassihi; Vesarat Wessagowit; Catherine Jones; Patricia Dopping-Hepenstal; Jackie Denyer; Jemima E Mellerio; Sheila Clark; John A McGrath
Journal:  J Dermatol Sci       Date:  2005-09       Impact factor: 4.563

Review 4.  Kindler syndrome.

Authors:  Joey E Lai-Cheong; John A McGrath
Journal:  Dermatol Clin       Date:  2010-01       Impact factor: 3.478

5.  Invasive squamous cell carcinoma of the hand in a patient with Kindler syndrome: Case report and literature review.

Authors:  Etienne Cardin-Langlois; Dominique Hanna; Maxime St-Amant; Fréderic Croteau
Journal:  Can J Plast Surg       Date:  2010

6.  Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.

Authors:  Florence Jobard; Bakar Bouadjar; Frédéric Caux; Smail Hadj-Rabia; Christina Has; Fumi Matsuda; Jean Weissenbach; Mark Lathrop; Jean-François Prud'homme; Judith Fischer
Journal:  Hum Mol Genet       Date:  2003-04-15       Impact factor: 6.150

7.  Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.

Authors:  C Has; B Burger; A Volz; J Kohlhase; L Bruckner-Tuderman; P Itin
Journal:  Dermatology       Date:  2010-10-11       Impact factor: 5.366

8.  A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome.

Authors:  C Zhou; S Song; J Zhang
Journal:  Br J Dermatol       Date:  2009-03-09       Impact factor: 9.302

9.  Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.

Authors:  Cristina Has; Corinna Herz; Elena Zimina; Hai-Yan Qu; Yinghong He; Zhi-Gang Zhang; Ting-Ting Wen; Yannick Gache; Monique Aumailley; Leena Bruckner-Tuderman
Journal:  Am J Pathol       Date:  2009-09-17       Impact factor: 4.307

Review 10.  Kindler syndrome: a focal adhesion genodermatosis.

Authors:  J E Lai-Cheong; A Tanaka; G Hawche; P Emanuel; C Maari; M Taskesen; S Akdeniz; L Liu; J A McGrath
Journal:  Br J Dermatol       Date:  2008-12-11       Impact factor: 9.302
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  9 in total

1.  A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome.

Authors:  Ying Gao; Jin-li Bai; Xiao-yan Liu; Yu-jin Qu; Yan-yan Cao; Jian-cai Wang; Yu-wei Jin; Hong Wang; Fang Song
Journal:  J Zhejiang Univ Sci B       Date:  2015-11       Impact factor: 3.066

2.  A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.

Authors:  Nadja Chmel; Sorina Danescu; Amelie Gruler; Dimitra Kiritsi; Leena Bruckner-Tuderman; Alexander Kreuter; Jürgen Kohlhase; Cristina Has
Journal:  J Invest Dermatol       Date:  2015-06-17       Impact factor: 8.551

3.  Structural basis of kindlin-mediated integrin recognition and activation.

Authors:  Huadong Li; Yi Deng; Kang Sun; Haibin Yang; Jie Liu; Meiling Wang; Zhang Zhang; Jirong Lin; Chuanyue Wu; Zhiyi Wei; Cong Yu
Journal:  Proc Natl Acad Sci U S A       Date:  2017-07-24       Impact factor: 11.205

4.  Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

Authors:  Leila Youssefian; Hassan Vahidnezhad; Amir Hossein Saeidian; Soheila Sotoudeh; Hamidreza Mahmoudi; Maryam Daneshpazhooh; Nessa Aghazadeh; Rebecca Adams; Alireza Ghanadan; Sirous Zeinali; Paolo Fortina; Jouni Uitto
Journal:  Eur J Hum Genet       Date:  2017-09-06       Impact factor: 4.246

5.  Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome.

Authors:  Seung Joon Oh; Song-Ee Kim; Sang Eun Lee; Soo-Chan Kim
Journal:  Ann Dermatol       Date:  2016-07-26       Impact factor: 1.444

6.  Blistering and Mottled Pigmentation in a Young Male.

Authors:  Anupama Bains; Deepak Vedant; Abhishek Bhardwaj; Poonam Elhence
Journal:  Indian Dermatol Online J       Date:  2018 Nov-Dec

7.  Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.

Authors:  Sara Guerrero-Aspizua; Claudio J Conti; Maria Jose Escamez; Daniele Castiglia; Giovanna Zambruno; Leila Youssefian; Hassan Vahidnezhad; Luis Requena; Peter Itin; Gianluca Tadini; Ivelina Yordanova; Ludovic Martin; Jouni Uitto; Cristina Has; Marcela Del Rio
Journal:  Orphanet J Rare Dis       Date:  2019-07-24       Impact factor: 4.123

8.  Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.

Authors:  C Has; L Liu; M C Bolling; A V Charlesworth; M El Hachem; M J Escámez; I Fuentes; S Büchel; R Hiremagalore; G Pohla-Gubo; P C van den Akker; K Wertheim-Tysarowska; G Zambruno
Journal:  Br J Dermatol       Date:  2019-08-09       Impact factor: 9.302

9.  FERMT1 promotes gastric cancer progression by activating the NF-κB pathway and predicts poor prognosis.

Authors:  Hua Fan; Shengjun Zhang; Yu Zhang; Wu Liang; Bo Cao
Journal:  Cancer Biol Ther       Date:  2020-07-29       Impact factor: 4.742
  9 in total

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