Literature DB >> 17505164

A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome.

H Kobayashi, M Kasahara, M Hino, S Takahara, K Ikeda, C Son, T Iwakura, N Matsuoka, A Yoshimoto, N Ohgo, R Kasai, T Ishihara, Y Ogawa.   

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Year:  2007        PMID： 17505164     DOI： 10.1007/BF03347437

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


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  9 in total

1.  Osteopathia condensans disseminata (osteopoikilosis); study of a family of 4 generations.

Authors:  J C MELNICK
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1959-08

2.  Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

Authors:  S H Orkin; H H Kazazian; S E Antonarakis; S C Goff; C D Boehm; J P Sexton; P G Waber; P J Giardina
Journal:  Nature       Date:  1982-04-15       Impact factor: 49.962

3.  A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.

Authors:  R Treisman; N J Proudfoot; M Shander; T Maniatis
Journal:  Cell       Date:  1982-07       Impact factor: 41.582

4.  Osteopoikilosis--a clinical and genetic study.

Authors:  R Berlin; B Hedensiö; B Lilja; L Linder
Journal:  Acta Med Scand       Date:  1967-03

5.  MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-beta signaling.

Authors:  Feng Lin; Juliet M Morrison; Wei Wu; Howard J Worman
Journal:  Hum Mol Genet       Date:  2004-12-15       Impact factor: 6.150

6.  Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

Authors:  Jan Hellemans; Olena Preobrazhenska; Andy Willaert; Philippe Debeer; Peter C M Verdonk; Teresa Costa; Katrien Janssens; Bjorn Menten; Nadine Van Roy; Stefan J T Vermeulen; Ravi Savarirayan; Wim Van Hul; Filip Vanhoenacker; Danny Huylebroeck; Anne De Paepe; Jean-Marie Naeyaert; Jo Vandesompele; Frank Speleman; Kristin Verschueren; Paul J Coucke; Geert R Mortier
Journal:  Nat Genet       Date:  2004-10-17       Impact factor: 38.330

7.  Osteopoikilosis: a radiological and pathological study.

Authors:  R Lagier; A Mbakop; A Bigler
Journal:  Skeletal Radiol       Date:  1984       Impact factor: 2.199

Review 8.  Buschke-Ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease.

Authors:  Torsten Ehrig; Clay J Cockerell
Journal:  J Am Acad Dermatol       Date:  2003-12       Impact factor: 11.527

9.  Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

Authors:  Jan Hellemans; Philippe Debeer; Michael Wright; Andreas Janecke; Klaus W Kjaer; Peter C M Verdonk; Ravi Savarirayan; Lina Basel; Celia Moss; Johannes Roth; Albert David; Anne De Paepe; Paul Coucke; Geert R Mortier
Journal:  Hum Mutat       Date:  2006-03       Impact factor: 4.878
  9 in total
  1 in total

1.  Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.

Authors:  Benjamin Korman; Jun Wei; Anne Laumann; Polly Ferguson; John Varga
Journal:  Case Rep Dermatol Med       Date:  2016-06-13
  1 in total

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