LEMD3

Last update 08 May 2025

Basic Info

Synonyms

Inner nuclear membrane protein Man1, LEM domain containing 3, LEM domain-containing protein 3

+ [2]

Introduction

Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.

100 Clinical Results associated with LEMD3

100 Translational Medicine associated with LEMD3

0 Patents (Medical) associated with LEMD3

Literatures (Medical) associated with LEMD3

01 Feb 2025·Animal Genetics

Comprehensive genomic analysis and selection signature detection in endangered Beigang pigs using whole‐genome sequencing data

Article

Author: Gao, Hui ; Zhang, Xiaowei ; Ma, Xuejian ; Han, He ; Zhang, Zhenyang ; Liu, Shengqiang ; Pan, Yuchun ; Wang, Meng ; Shi, Jinhu ; Chen, Zitao ; Gu, Jiamin ; Wang, Qishan

AbstractThe Beigang pig was recently identified as one of the endangered breeds during a Chinese indigenous pig genetic resource survey. The Beigang breed is notable for its remarkable roughage tolerance and high reproductive capacity according to historical records. Morphologically, the Beigang pig resembles many indigenous pigs in eastern China, especially in its large ears. This makes the Beigang pig a valuable reference for studying the genetic mechanisms on large ear size in pigs. However, there is currently a lack of clear understanding regarding the genetic structure and inbreeding levels of the Beigang pig population. This study used whole‐genome sequencing data from Beigang pig (N = 145 pigs) and integrated genetic information from commercial pigs and indigenous pigs in eastern China to conduct a comprehensive analysis of the Beigang pig's genetic structure. Three selection signal detection methods—runs of homozygosity, fixation index, and integrated haplotype score—were employed to explore the differences in genomic selection signatures between Beigang pig and other pig populations. Additionally, we used a public project for regulatory variants discovery and molecular phenotype prediction in farm animal species called FarmGtex to explore the expression of three genes (WIF1, LEMD3, and MSRB3) related to ear size in Beigang pig. This research identified five homozygous variant sites in the WIF1 gene as important candidate loci potentially influencing ear size in Beigang pig. The results indicate that the Beigang pig holds a unique status among Chinese indigenous pigs, characterized by high genetic diversity and low levels of inbreeding. The study also revealed that WIF1 may play a significant role in influencing ear size in this breed. These findings contribute to a deeper understanding of the population structure and genetic characteristics of Beigang pig.

06 Jan 2025·JBMR Plus

Unraveling melorheostosis: insights into clinical features, diagnosis, and treatment

Review

Author: Bhattacharyya, Timothy

AbstractMelorheostosis is a rare bone disease characterized by abundant bone formation with a characteristic radiographic appearance that resembles “dripping candle wax.” Recent data have shown that the majority of cases are due to somatic activating mutations in bone. Melorheostosis has several clinical and radiographic presentations, which are now known to be caused by different somatic mutations such as MAP2K1, SMAD3, KRAS, and LEMD3. This review provides a comprehensive look at the clinical features, diagnostic approaches, and current treatment options for melorheostosis, alongside future research directions aimed at improving patient outcomes.

01 Jan 2025·Journal of Clinical Densitometry

Bone Health ECHO Case Report: High Bone Mass in a Patient with Chronic Kidney Disease

Article

Author: Popov, Sergey ; Gronskaia, Sofia ; Sharova, Margarita ; Tarbaeva, Natalia ; Mamedova, Elizaveta ; Belaya, Zhanna ; Przhiyalkovskaya, Elena ; Lewiecki, Michael

Bone Health ECHO (Extension of Community Healthcare Outcomes) is a growing family of online educational programs. Its mission is to enhance delivery of best practice skeletal healthcare worldwide. Each program typically consists of a didactic lecture and discussion of clinical cases with diagnostic and treatment dilemmas. Here we present a Bone Health ECHO case of a 39-year-old man who has received hemodialysis for 12 years. This case is characterized by the development of chronic kidney disease - mineral and bone disorder (CKD-MBD) which was managed using conservative treatment to maintain phosphate and calcium levels within the reference range in spite of severe secondary hyperparathyroidism, after the patient declined parathyroidectomy. Although this patient had multiple vertebral fractures with height loss, his bone mineral density was higher than expected for his age and gradually increased over the period of observation. Whole-exome sequencing showed a heterozygous, likely pathogenic variant in LEMD3 gene (13 exon HG38, chr12:65246271dup, с.2682dup in a heterozygous state), which may explain the high bone mass phenotype. As a result of the ECHO presentation, we decided that successful treatment of CKD-MBD would be the most effective approach to managing his bone fragility. His high bone mass phenotype was most likely associated with LEMD3 gene variant. This patient does not require any specific anti-osteoporotic treatment at this time; however, he is likely to benefit from parathyroid surgery.

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LEMD3

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