Ask about this productRelated genes to: TMEM38B Blocking Peptide
- Gene:
- TMEM38B NIH gene
- Name:
- transmembrane protein 38B
- Previous symbol:
- C9orf87
- Synonyms:
- FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B
- Chromosome:
- 9q31.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-02-19
- Date modifiied:
- 2018-08-13
Related products to: TMEM38B Blocking Peptide
Related articles to: TMEM38B Blocking Peptide
- Osteogenesis imperfecta (OI) type XIV is a rare recessive disorder caused by pathogenic variants that disrupt an endoplasmic reticulum protein essential for calcium homeostasis and bone mineralization. This leads to severe bone fragility, early-onset fractures, skeletal deformities, low bone mass, scoliosis, and variable features like blue sclerae or dental abnormalities. We present a case report of a 21-year-old Italian male with a novel homozygous splice variant (c.112 + 1G > T), detailing the clinical presentation, genetic findings, and therapeutic outcomes. The patient exhibited multiple skeletal deformities and showed a moderate response to bisphosphonate therapy (neridronate). In addition, a systematic review of PubMed and Scopus identified 12 relevant studies from an initial set of 82 publications, encompassing data from 56 patients diagnosed with OI type XIV. Unlike classical collagen-related OI, -related OI necessitates genetic screening beyond classical collagen genes ( and ). While bisphosphonates provide some clinical benefit, persistent fractures underscore the need for long-term management and innovative therapies. This case report and systematic review enhance understanding of OI type XIV and underscore the clinical importance of variants in bone fragility disorders. - Source: PubMed
Publication date: 2025/12/18
Zoller ThomasRighetti MartinaCont RiccardoLanzafame RuggeroAmbrosetti IreneGuzzo AlessandraPietrobelli AngeloAntoniazzi Franco - Transmembrane protein 38 (TMEM38) gene family, including TMEM38A and TMEM38B, is responsible for facilitating trimeric intracellular cation transport across the membrane and regulating key cellular processes, such as muscle contraction and cell differentiation in mammals. However, a genome-wide analysis of the chicken TMEM38 gene family, as well as investigations into their biological roles and post-transcriptional expression regulation in fat deposition have not yet been conducted. In this study, we investigated the genome-wide characteristics of chicken TMEM38 gene family, elucidated the regulatory roles of the TMEM38B gene in both abdominal and intramuscular adipogenesis, and explored its miRNA-mediated expression regulatory mechanisms. We found that chicken TMEM38A and TMEM38B exhibited notable conservation in gene structure and motifs across diverse species. Principal component analysis based on SNPs showed that genetic variations in the TMEM38B gene contributed to the selective breeding of commercial broilers. Moreover, gene expression profiling demonstrated that TMEM38A and TMEM38B showed the positive expression in chicken abdominal adipose and muscle tissues, and overall increased expression during the proliferation and adipogenic differentiation of both chicken abdominal and intramuscular preadipocytes. Functionally, TMEM38B overexpression significantly enhanced viability, proliferation, cell cycle progression as well as intracellular triglyceride content and lipid droplet accumulation of both chicken abdominal and intramuscular preadipocytes, paralleling with the expression of proliferative and adipogenic marker genes. Target miRNA prediction identified 37 potential miRNAs targeting the TMEM38B gene. Of these, a dual-luciferase reporter system verified that miR-20b-3p could directly bind to the 3'UTR of the TMEM38B gene and thus inhibit its post-transcriptional expression. Gain-of-function assays showed that miR-20b-3p could suppress the viability, proliferation, and cell cycle progression of chicken abdominal and intramuscular preadipocytes, as well as the adipogenic differentiation of chicken abdominal preadipocytes. Collectively, we demonstrated the promotive effects of TMEM38B in regulating abdominal and intramuscular fat deposition, as well as its post-transcriptional expression inhibition mediated by miR-20b-3p. These findings shed novel lights into the functional role and expression regulation of the miR-20b-3p-TMEM38B axis in adipogenesis, and may provide valuable biomarkers for the genetic improvement of fat traits in chickens. - Source: PubMed
Publication date: 2025/08/16
Li ShuohanCheng XiZhang KeWang YangWei HongyuZhi YihaoCheng ZhiminGuo YulongLi HongTian YadongLiu XiaojunTian Weihua - Os teomyelitis is a severe bone infection characterized by inflammation and destruction of bone and bone marrow, often leading to significant morbidity and challenging treatment strategies. Although it is known that many factors such as autoimmune diseases are related to the progress of osteomyelitis, the relationship between plasma protein and osteomyelitis has not been fully studied. We applied two-sample Mendelian randomization (MR) to evaluate causal effects of 4907 circulating plasma proteins on osteomyelitis risk. Proteomic exposure data were derived from a genome-wide association study (GWAS) of 35,559 Icelandic participants, while outcome statistics incorporated 2125 clinically validated osteomyelitis cases and 429,826 population controls from the FinnGen cohort. To ensure robustness, sensitivity analyses were conducted on the identified causal proteins. Additionally, to deepen our understanding of the biological processes, molecular functions, cellular compositions, and relevant metabolic and signaling pathways implicated in osteomyelitis, we performed Gene Ontology (GO) enrichment analysis, KEGG pathway analysis, and GeneMANIA analysis. The study identified five plasma proteins-SYTL1, DEFA1, MICB, FTMT, and TMEM38B-significantly associated with osteomyelitis, with protective effects indicated (inverse variance weighted p < 0.001, OR < 1). The strong statistical evidence highlights the proteins' potential as osteomyelitis biomarkers, which are crucial for enhancing our molecular insights and guiding future therapeutic development. Our findings provide valuable insights into the role of the plasma proteome in osteomyelitis and underscore the significance of the ferroptosis pathway. By identifying potential therapeutic targets associated with this pathway, we can establish a robust biological foundation for future research and therapeutic development in osteomyelitis. - Source: PubMed
Publication date: 2025/07/14
Chai WeihaoYuan HongruiLiu JiangweiYang Yi - Sleep deprivation is a prevalent issue that disrupts the circadian rhythm of estrogen, particularly estradiol, thereby significantly affecting women's skin health and appearance. These disruptions can impair skin barrier functionality and decrease dermal collagen synthesis. In this study, our results demonstrate that topical taurine supplementation promotes the expression of tight junction (TJ)-related proteins and enhances collagen production, effectively restoring skin homeostasis in sleep-deprived female mice. Mechanistically, taurine upregulates the expression of , a gene encoding the TRIC-B trimeric cation channel, resulting in increased intracellular calcium ion levels. This, in turn, promotes the upregulation of TJ-related proteins, such as ZO-1, occludin, and claudin-11 in epidermal cells, while also enhancing the expression of type III collagen in fibroblasts, thus restoring skin homeostasis. These findings suggest that taurine may serve as an alternative to estradiol, effectively improving skin homeostasis disrupted by sleep deprivation while mitigating the potential risks associated with exogenous estrogen supplementation. Collectively, these results provide preliminary insights into the protective mechanisms of taurine against sleep deprivation-induced skin impairments and establish a foundation for its potential application in treating skin conditions related to estrogen imbalances, such as skin aging in menopausal women. - Source: PubMed
Publication date: 2025/05/16
Shao QiWang ZhaoyangLi YifangTang XunLi ZiyiXia HuanWu QihongChang RuxueWu ChunnaMeng TaoFan YufeiHuang YadongYang Yan - OI type XIV is caused by variants in the TMEM38B gene, encoding for the ubiquitously expressed endoplasmic reticulum trimeric intracellular cation channel type B (TRIC-B), causing disruptions in calcium homeostasis and collagen synthesis. Patients with OI type XIV present with a highly variable clinical phenotype, ranging from asymptomatic to severe. We present here data from a 6 year clinical follow-up of two affected siblings and bone tissue characterisation obtained during corrective surgery from one of the patients, as well as tibiae from a novel Tmem38b conditional knockout murine model (Runx2-Cre; Tmem38b). - Source: PubMed
Publication date: 2025/02/02
Jones Chloe EBlouin StéphaneRaimann AdalbertMindler GabrielContento Barbara MBesio RobertaKranzl AndreasKraler BenjaminHartmann Markus AForlino AntonellaFratzl-Zelman Nadja