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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Transmembrane protein 38B

TMEM38B
Top mentioned proteins: Bone morphogenetic protein, LEPRE1, LIN28B, AGE, cyclophilin B
Papers on TMEM38B
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.
Perez et al., São Paulo, Brazil. In Mol Syndromol, 2014
Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease.
What is new in genetics and osteogenesis imperfecta classification?
Review
Zabel et al., Belo Horizonte, Brazil. In J Pediatr (rio J), 2014
After 2006, mutations were identified in the CRTAP, FKBP10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, WNT1, BMP1, and TMEM38B genes, associated with recessive OI and mutation in the IFITM5 gene associated with dominant OI.
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.
Faletra et al., Trieste, Italy. In Gene, 2014
Recently, TMEM38B, a gene that encodes TRIC-B, a monovalent cation-specific channel involved in calcium flux from intracellular stores and in cell differentiation, has been associated with autosomal recessive OI.
New genes in bone development: what's new in osteogenesis imperfecta.
Review
Blissett et al., Bethesda, United States. In J Clin Endocrinol Metab, 2013
Additional genes, including SP7 and TMEM38B, have been implicated in recessive OI but are as yet unclassified.
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.
Birk et al., Beersheba, Israel. In Hum Mutat, 2013
TMEM38B encodes TRIC-B, a ubiquitous component of TRIC, a monovalent cation-specific channel involved in Ca(2+) release from intracellular stores that has been shown to act in cell differentiation.
Genome wide association study of age at menarche in the Japanese population.
Matsuda et al., Tokyo, Japan. In Plos One, 2012
Among them, two SNPs rs4452860 and rs7028916 in TMEM38B indicated significant association with AAM in the same directions as reported in previous studies (P = 0.0013 with an effect size of 0.051) even after Bonferroni correction for the 33 SNPs.
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
Alkuraya et al., Riyadh, Saudi Arabia. In J Med Genet, 2012
In three multiplex families, autozygosity and linkage analysis revealed a novel recessive OI locus on chromosome 9q31.1-31.3, and a novel truncating deletion of exon 4 of TMEM38B was identified within that interval.
Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.
Franceschini et al., Seattle, United States. In Hum Mol Genet, 2012
We replicated associations of eight loci (LRP18, LIN28B, CENPW, INHBA, TMEM38B, ZNF483, NFAT5 and OLFM2) with age at menarche, and of two loci (MCM8 and BRSK1/TMEM150B) with age at menopause.
Genetics of age at menarche: a systematic review.
Review
Waqar-ul-Haq et al., Hong Kong, Hong Kong. In Hum Reprod Update, 2012
LIN28B, TMEM38B) or in different ethnicities (e.g.
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.
Impact
Murabito et al., Exeter, United Kingdom. In Nat Genet, 2009
The strongest signal was at 9q31.2 (P = 1.7 × 10(-9)), where the nearest genes include TMEM38B, FKTN, FSD1L, TAL2 and ZNF462.
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