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2000 2
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2008 3
2009 7
2010 5
2011 5
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2014 7
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120 results

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Page 1
Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.
Zhang Q, Mo ZH, Dong CS, Yang F, Xie YH, Jin P. Zhang Q, et al. J Endocrinol Invest. 2016 Jun;39(6):679-85. doi: 10.1007/s40618-015-0419-z. Epub 2015 Dec 22. J Endocrinol Invest. 2016. PMID: 26694706 Review.
Recent studies have reported loss-of-function mutations in the LEM domain containing 3 (LEMD3) gene, encoding an inner nuclear membrane protein, as a cause of osteopoikilosis. METHODS: We investigated LEMD3 gene in a three-generation family from China, with six pati …
Recent studies have reported loss-of-function mutations in the LEM domain containing 3 (LEMD3) gene, encoding an inner nuclear membra …
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR. Hellemans J, et al. Hum Mutat. 2006 Mar;27(3):290. doi: 10.1002/humu.9403. Hum Mutat. 2006. PMID: 16470551
Seven novel LEMD3 mutations were identified, all predicted to result in loss-of-function of the protein. We confirm that loss-of-function mutations in the LEMD3 gene can result in either osteopoikilosis or BOS. However, LEMD3 germline mutations were only foun …
Seven novel LEMD3 mutations were identified, all predicted to result in loss-of-function of the protein. We confirm that loss-of-func …
Hsa_circ_0070963 inhibits liver fibrosis via regulation of miR-223-3p and LEMD3.
Ji D, Chen GF, Wang JC, Ji SH, Wu XW, Lu XJ, Chen JL, Li JT. Ji D, et al. Aging (Albany NY). 2020 Jan 29;12(2):1643-1655. doi: 10.18632/aging.102705. Epub 2020 Jan 29. Aging (Albany NY). 2020. PMID: 32003753 Free PMC article.
The interactions between hsa_circ_0070963, miR-223-3p, and LEMD3 were validated via bioinformatic analysis, luciferase reporter assays, and rescue experiments. Collectively, hsa_circ_0070963 appeared to function as a miR-223-3p sponge that inhibited HSC activation in liver …
The interactions between hsa_circ_0070963, miR-223-3p, and LEMD3 were validated via bioinformatic analysis, luciferase reporter assay …
A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.
Elmaoğulları S, Yıldız AE, Demir S, Gürkan H, Uçaktürk SA. Elmaoğulları S, et al. Turk J Pediatr. 2019;61(4):594-598. doi: 10.24953/turkjped.2019.04.018. Turk J Pediatr. 2019. PMID: 31990479 Free article.
Elmaogullari S, Yildiz AE, Demir S, Gurkan H, Ucakturk SA. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. ...We have shown that the boy and his mother have a previously unknown pathogenic variant of the LEMD3 gene, supporting the diagnosi …
Elmaogullari S, Yildiz AE, Demir S, Gurkan H, Ucakturk SA. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. …
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant.
Korman B, Wei J, Laumann A, Ferguson P, Varga J. Korman B, et al. Case Rep Dermatol Med. 2016;2016:2483041. doi: 10.1155/2016/2483041. Epub 2016 Jun 13. Case Rep Dermatol Med. 2016. PMID: 27382493 Free PMC article.
DNA sequencing identified a previously undescribed nonsense mutation (Trp621X) in the LEMD3 gene encoding Man1. Two additional family members were found to have osteopoikilosis and carry the same LEMD3 mutation. Conclusions and Relevance. We report a unique familial …
DNA sequencing identified a previously undescribed nonsense mutation (Trp621X) in the LEMD3 gene encoding Man1. Two additional family …
A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.
Couto AR, Bruges-Armas J, Peach CA, Chapman K, Brown MA, Wordsworth BP, Zhang Y. Couto AR, et al. Calcif Tissue Int. 2007 Aug;81(2):81-4. doi: 10.1007/s00223-007-9043-z. Epub 2007 Jul 11. Calcif Tissue Int. 2007. PMID: 17622481
We found a novel C to T substitution at position 2032 bp (cDNA) in exon 8 of LEMD3, resulting in a premature stop codon at amino acid position 678. ...The LEMD3 mutation reported was clearly the cause of osteopoikilosis in the two families but its relationship to me …
We found a novel C to T substitution at position 2032 bp (cDNA) in exon 8 of LEMD3, resulting in a premature stop codon at amino acid …
Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition.
Xu Z, Yang C, Xue R. Xu Z, et al. J Cutan Pathol. 2021 Jan;48(1):77-80. doi: 10.1111/cup.13771. Epub 2020 Jul 4. J Cutan Pathol. 2021. PMID: 32519343
Accordingly, pathology showed an increase in thick, crossed, or paralleled, elastic fibers arranged between the collagen bundles in the lower part of the reticular dermis and the subcutaneous fat with mucin deposition. Heterozygous point mutation in exon 8 of the LEMD3 gen …
Accordingly, pathology showed an increase in thick, crossed, or paralleled, elastic fibers arranged between the collagen bundles in the lowe …
Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.
Yadegari M, Whyte MP, Mumm S, Phelps RG, Shanske A, Totty WG, Cohen SR. Yadegari M, et al. Arch Dermatol. 2010 Jan;146(1):63-8. doi: 10.1001/archdermatol.2009.320. Arch Dermatol. 2010. PMID: 20083694
BACKGROUND: Buschke-Ollendorff syndrome (BOS), an autosomal dominant disorder, features small, acquired, asymptomatic, symmetrical foci of osteosclerosis detected radiographically in epimetaphyseal bone (osteopoikilosis) (OPK) together with connective tissue nevi or juvenile elas …
BACKGROUND: Buschke-Ollendorff syndrome (BOS), an autosomal dominant disorder, features small, acquired, asymptomatic, symmetrical foci of o …
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.
Zhang Y, Castori M, Ferranti G, Paradisi M, Wordsworth BP. Zhang Y, et al. Clin Genet. 2009 Jun;75(6):556-61. doi: 10.1111/j.1399-0004.2009.01177.x. Epub 2009 May 5. Clin Genet. 2009. PMID: 19438932
Mutations in the LEMD3 gene were recently incriminated in Buschke-Ollendorff syndrome (BOS) and osteopoikilosis, with or without melorheostosis. ...The present study supports the general conclusion that LEMD3 mutations do not contribute to isolated sporadic melorheo …
Mutations in the LEMD3 gene were recently incriminated in Buschke-Ollendorff syndrome (BOS) and osteopoikilosis, with or without melo …
120 results