与肥厚性瘢痕形成相关的Buschke-Ollendorff综合征：LEMD3突变的可能作用。 - Suppr

Suppr

超能文献

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

作者信息

Korekawa A, Nakano H, Toyomaki Y, Takiyoshi N, Rokunohe D, Akasaka E, Nakajima K, Sawamura D

出版信息

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

DOI:10.1111/j.1365-2133.2011.10691.x

PMID:21985280

Abstract

摘要

相似文献

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.

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.

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.

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.

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.

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 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.

Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.

Clin Genet. 2009 Jun;75(6):556-61. doi: 10.1111/j.1399-0004.2009.01177.x. Epub 2009 May 5.

Buschke-Ollendorff syndrome: a manifestation of a heterozygous nonsense mutation in the LEMD3 gene.

J Am Acad Dermatol. 2008 May;58(5 Suppl 1):S103-4. doi: 10.1016/j.jaad.2007.03.031.

引用本文的文献

Clinical and Histopathological Characteristics of Buschke-Ollendorff Syndrome: A Case Series.

Acta Derm Venereol. 2025 Apr 8;105:adv42531. doi: 10.2340/actadv.v105.42531.

The Diverse Cellular Functions of Inner Nuclear Membrane Proteins.

Cold Spring Harb Perspect Biol. 2021 Sep 1;13(9):a040477. doi: 10.1101/cshperspect.a040477.

LEM domain-containing protein 3 antagonizes TGFβ-SMAD2/3 signaling in a stiffness-dependent manner in both the nucleus and cytosol.

J Biol Chem. 2018 Oct 12;293(41):15867-15886. doi: 10.1074/jbc.RA118.003658. Epub 2018 Aug 14.

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.

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

Case Rep Dermatol Med. 2016;2016:2483041. doi: 10.1155/2016/2483041. Epub 2016 Jun 13.

Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.

J Endocrinol Invest. 2016 Jun;39(6):679-85. doi: 10.1007/s40618-015-0419-z. Epub 2015 Dec 22.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验