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87 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, …
Recent studies have reported loss-of-function mutations in the LEM domain containing 3 (LEMD3) gene, encoding an inner nuclear …
An actin-based nucleoskeleton involved in gene regulation and genome organization.
Xie X, Percipalle P. Xie X, et al. Biochem Biophys Res Commun. 2018 Nov 25;506(2):378-386. doi: 10.1016/j.bbrc.2017.11.206. Epub 2017 Dec 5. Biochem Biophys Res Commun. 2018. PMID: 29203242 Review.
This eventually drives movement of gene-rich chromatin loops and formation of DNA loops, consolidating neighborhoods of gene expression and silencing. ...In the present review, we summarize evidence that actin and actin-associated proteins regulate gene activ …
This eventually drives movement of gene-rich chromatin loops and formation of DNA loops, consolidating neighborhoods of gene e …
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.
Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S. Baasanjav S, et al. BMC Med Genet. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110. BMC Med Genet. 2010. PMID: 20618940 Free PMC article.
The patients affected with both LEMD3 and EXT1 gene mutations displayed typical features of the osteopoikilosis. ...In the same family we identified two novel EXT1 gene mutations. One of them A598T co-incided with the LEMD3 mutation. ...
The patients affected with both LEMD3 and EXT1 gene mutations displayed typical features of the osteopoikilosis. ...In the sam …
Melorheostosis: a Rare Sclerosing Bone Dysplasia.
Kotwal A, Clarke BL. Kotwal A, et al. Curr Osteoporos Rep. 2017 Aug;15(4):335-342. doi: 10.1007/s11914-017-0375-y. Curr Osteoporos Rep. 2017. PMID: 28676968 Review.
Diagnosis is based on a combination of clinical and radiological features that help differentiate this condition from other sclerosing bone dysplasias. LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these …
Diagnosis is based on a combination of clinical and radiological features that help differentiate this condition from other sclerosing bone …
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 on …
Seven novel LEMD3 mutations were identified, all predicted to result in loss-of-function of the protein. We confirm that loss-of-func …
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.
Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear …
Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin …
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 …
The heterozygous Lemd3 +/GT mouse is not a murine model for osteopoikilosis in humans.
Dheedene A, Deleye S, Hellemans J, Staelens S, Vandenberghe S, Mortier G. Dheedene A, et al. Calcif Tissue Int. 2009 Dec;85(6):546-51. doi: 10.1007/s00223-009-9305-z. Epub 2009 Oct 28. Calcif Tissue Int. 2009. PMID: 19862465
These disorders are caused by heterozygous loss-of-function mutations in the LEMD3 gene. LEMD3 codes for a protein of the inner nuclear membrane that, through interaction with R-SMADs, antagonizes the BMP and TGF beta 1 pathway. ...To further assess this, an …
These disorders are caused by heterozygous loss-of-function mutations in the LEMD3 gene. LEMD3 codes for a protein of t …
Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis.
Silov G, Erdoğan Z, Erdoğan M, Özdal A, Gençer H, Akalın T, Karaçavuş S. Silov G, et al. Mol Imaging Radionucl Ther. 2018 Feb 1;27(1):48-51. doi: 10.4274/mirt.25743. Mol Imaging Radionucl Ther. 2018. PMID: 29393055 Free PMC article.
Osteopoikilosis is an inherited condition with autosomal dominant trait resulting in sclerotic foci throughout the skeleton. It has been suggested that loss-of-function mutations of LEMD3 gene located on 12q14.3 result in osetopoikilosis. A bp heterozygote deletion …
Osteopoikilosis is an inherited condition with autosomal dominant trait resulting in sclerotic foci throughout the skeleton. It has been sug …
87 results