LEMD3的RNA识别基序在Buschke-Ollendorff综合征发病机制中起关键作用。 - Suppr

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RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome.

作者信息

Takashima Shota, Fujita Yasuyuki, Suzuki Shotaro, Saito Nao, Shinkuma Satoru, Nomura Toshifumi, Shimizu Hiroshi

机构信息

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

出版信息

J Dermatol Sci. 2016 Mar;81(3):205-8. doi: 10.1016/j.jdermsci.2015.12.002. Epub 2015 Dec 11.

DOI:10.1016/j.jdermsci.2015.12.002

PMID:26711937

Abstract

摘要

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引用本文的文献

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RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome.

作者信息

Takashima Shota, Fujita Yasuyuki, Suzuki Shotaro, Saito Nao, Shinkuma Satoru, Nomura Toshifumi, Shimizu Hiroshi

机构信息

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

出版信息

J Dermatol Sci. 2016 Mar;81(3):205-8. doi: 10.1016/j.jdermsci.2015.12.002. Epub 2015 Dec 11.

DOI:10.1016/j.jdermsci.2015.12.002

PMID:26711937

Abstract

摘要

相似文献

RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome.

J Dermatol Sci. 2016 Mar;81(3):205-8. doi: 10.1016/j.jdermsci.2015.12.002. Epub 2015 Dec 11.

Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia.

J Dtsch Dermatol Ges. 2018 Mar;16(3):348-349. doi: 10.1111/ddg.13446. Epub 2018 Feb 21.

Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome.

JAMA Dermatol. 2016 Jul 1;152(7):844-5. doi: 10.1001/jamadermatol.2016.0350.

Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.

Pediatr Dermatol. 2015 Sep-Oct;32(5):e219-20. doi: 10.1111/pde.12634. Epub 2015 Jul 2.

Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome?

Pediatr Dermatol. 2017 Nov;34(6):e345-e346. doi: 10.1111/pde.13287. Epub 2017 Oct 10.

Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3.

Pediatr Dermatol. 2011 Jul-Aug;28(4):447-50. doi: 10.1111/j.1525-1470.2010.01206.x. Epub 2010 Jul 29.

The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand.

BMC Res Notes. 2016 Jun 7;9:294. doi: 10.1186/s13104-016-2095-2.

Papular elastorrhexis and Buschke-Ollendorff syndrome are different entities.

J Am Acad Dermatol. 2011 Jul;65(1):e7-9. doi: 10.1016/j.jaad.2010.01.025.

Buschke-Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation.

Br J Dermatol. 2012 Apr;166(4):900-3. doi: 10.1111/j.1365-2133.2011.10691.x. Epub 2012 Jan 9.

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.

Arch Dermatol. 2010 Jan;146(1):63-8. doi: 10.1001/archdermatol.2009.320.

引用本文的文献

Helen Ollendorff Curth: A dermatologist's lasting legacy.

Int J Womens Dermatol. 2017 Feb 16;3(1 Suppl):S70-S74. doi: 10.1016/j.ijwd.2017.02.015. eCollection 2017 Mar.

Helen Ollendorff-Curth: A dermatologist's lasting legacy.

Int J Womens Dermatol. 2016 Jul 18;2(3):108-112. doi: 10.1016/j.ijwd.2016.06.002. eCollection 2016 Sep.