Literature DB >> 26083552

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

Nadja Chmel1, Sorina Danescu2, Amelie Gruler1, Dimitra Kiritsi1, Leena Bruckner-Tuderman1, Alexander Kreuter3, Jürgen Kohlhase4, Cristina Has5.   

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Year:  2015        PMID： 26083552     DOI： 10.1038/jid.2015.227

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


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

Authors:  Leila Youssefian; Hassan Vahidnezhad; Mohammadreza Barzegar; Qiaoli Li; Soheila Sotoudeh; Ameneh Yazdanfar; Amir Hooshang Ehsani; Abdol-Mohammad Kajbafzadeh; Nikoo Mozafari; Nasser Ebrahimi Daryani; Farzaneh Agha-Hosseini; Sirous Zeinali; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2015-01-19       Impact factor: 8.551

3.  Distinct roles of talin and kindlin in regulating integrin α5β1 function and trafficking.

Authors:  Coert Margadant; Maaike Kreft; Dirk-Jan de Groot; Jim C Norman; Arnoud Sonnenberg
Journal:  Curr Biol       Date:  2012-07-12       Impact factor: 10.834

4.  New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome.

Authors:  D Fuchs-Telem; J Nousbeck; A Singer; J A McGrath; O Sarig; E Sprecher
Journal:  Clin Exp Dermatol       Date:  2014-04       Impact factor: 3.470

5.  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

6.  Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

Authors:  Cristina Has; Vesarat Wessagowit; Monica Pascucci; Corinna Baer; Biagio Didona; Christian Wilhelm; Cristina Pedicelli; Andrea Locatelli; Jürgen Kohlhase; Gabrielle H S Ashton; Gianluca Tadini; Giovanna Zambruno; Leena Bruckner-Tuderman; John A McGrath; Daniele Castiglia
Journal:  J Invest Dermatol       Date:  2006-05-04       Impact factor: 8.551

7.  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

8.  Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome.

Authors:  B C F Martignago; J E Lai-Cheong; L Liu; J A McGrath; T F Cestari
Journal:  Br J Dermatol       Date:  2007-10-04       Impact factor: 9.302

9.  Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

Authors:  J E Lai-Cheong; S Ussar; K Arita; I R Hart; J A McGrath
Journal:  J Invest Dermatol       Date:  2008-06-05       Impact factor: 8.551

10.  Kindlin-1 controls Wnt and TGF-β availability to regulate cutaneous stem cell proliferation.

Authors:  Emanuel Rognoni; Moritz Widmaier; Madis Jakobson; Raphael Ruppert; Siegfried Ussar; Despoina Katsougkri; Ralph T Böttcher; Joey E Lai-Cheong; Daniel B Rifkin; John A McGrath; Reinhard Fässler
Journal:  Nat Med       Date:  2014-03-30       Impact factor: 53.440
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  9 in total

Review 1.  Deep intronic mutations and human disease.

Authors:  Rita Vaz-Drago; Noélia Custódio; Maria Carmo-Fonseca
Journal:  Hum Genet       Date:  2017-05-12       Impact factor: 4.132

Review 2.  Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.

Authors:  Amir Hossein Saeidian; Leila Youssefian; Hassan Vahidnezhad; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2020-06       Impact factor: 8.551

Review 3.  Advances in understanding the molecular basis of skin fragility.

Authors:  Cristina Has
Journal:  F1000Res       Date:  2018-03-06

4.  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

5.  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

6.  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

7.  Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Authors:  Niall P Keegan; Steve D Wilton; Sue Fletcher
Journal:  Front Genet       Date:  2022-01-24       Impact factor: 4.772

8.  Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.

Authors:  Susanne Krämer; James Lucas; Francisca Gamboa; Miguel Peñarrocha Diago; David Peñarrocha Oltra; Marcelo Guzmán-Letelier; Sanchit Paul; Gustavo Molina; Lorena Sepúlveda; Ignacio Araya; Rubén Soto; Carolina Arriagada; Anne W Lucky; Jemima E Mellerio; Roger Cornwall; Fatimah Alsayer; Reinhard Schilke; Mark Adam Antal; Fernanda Castrillón; Camila Paredes; Maria Concepción Serrano; Victoria Clark
Journal:  Spec Care Dentist       Date:  2020-11

9.  In silico identification of pseudo-exon activation events in personal genome and transcriptome data.

Authors:  Narumi Sakaguchi; Mikita Suyama
Journal:  RNA Biol       Date:  2020-08-30       Impact factor: 4.652
  9 in total

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