Literature DB >> 17344927

Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.

Dedee F Murrell, Anna M G Pasmooij, Hendri H Pas, Penelope Marr, Sandra Klingberg, Ellen Pfendner, Jouni Uitto, Sara Sadowski, Felicity Collins, Richard Widmer, Marcel F Jonkman.   

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Year:  2007        PMID： 17344927     DOI： 10.1038/sj.jid.5700766

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


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  15 in total

1.  Target gene analyses of 39 amelogenesis imperfecta kindreds.

Authors:  Hui-Chen Chan; Ninna M R P Estrella; Rachel N Milkovich; Jung-Wook Kim; James P Simmer; Jan C-C Hu
Journal:  Eur J Oral Sci       Date:  2011-12       Impact factor: 2.612

2.  LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.

Authors:  J W Kim; F Seymen; K E Lee; J Ko; M Yildirim; E B Tuna; K Gencay; T J Shin; H K Kyun; J P Simmer; J C-C Hu
Journal:  J Dent Res       Date:  2013-08-19       Impact factor: 6.116

3.  Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.

Authors:  Justyna Dąbrowska; Barbara Biedziak; Anna Szponar-Żurowska; Margareta Budner; Paweł P Jagodziński; Rafał Płoski; Adrianna Mostowska
Journal:  Mol Genet Genomics       Date:  2022-07-01       Impact factor: 2.980

Review 4.  Oral manifestations in the epidermolysis bullosa spectrum.

Authors:  J Timothy Wright
Journal:  Dermatol Clin       Date:  2010-01       Impact factor: 3.478

5.  Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.

Authors:  Katarzyna B Gostyńska; Wing Yan Yuen; Anna Maria Gerdina Pasmooij; Cornelius Stellingsma; Hendri H Pas; Henny Lemmink; Marcel F Jonkman
Journal:  Eur J Hum Genet       Date:  2016-11-09       Impact factor: 4.246

6.  Type XVII collagen is a key player in tooth enamel formation.

Authors:  Takuya Asaka; Masashi Akiyama; Takanori Domon; Wataru Nishie; Ken Natsuga; Yasuyuki Fujita; Riichiro Abe; Yoshimasa Kitagawa; Hiroshi Shimizu
Journal:  Am J Pathol       Date:  2008-11-26       Impact factor: 4.307

7.  ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.

Authors:  Shih-Kai Wang; Murim Choi; Amelia S Richardson; Bryan M Reid; Brent P Lin; Susan J Wang; Jung-Wook Kim; James P Simmer; Jan C-C Hu
Journal:  Hum Mol Genet       Date:  2013-12-04       Impact factor: 6.150

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.  Novel LAMB3 mutations cause non-syndromic amelogenesis imperfecta with variable expressivity.

Authors:  K-E Lee; J Ko; C G Tran Le; T J Shin; H-K Hyun; S-H Lee; J-W Kim
Journal:  Clin Genet       Date:  2014-02-04       Impact factor: 4.438

10.  Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.

Authors:  James A Poulter; Walid El-Sayed; Roger C Shore; Jennifer Kirkham; Chris F Inglehearn; Alan J Mighell
Journal:  Eur J Hum Genet       Date:  2013-05-01       Impact factor: 4.246
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