Property Summary

NCBI Gene PubMed Count 33
Grant Count 55
R01 Count 41
Funding $10,761,069.78
PubMed Score 200.04
PubTator Score 160.55

Knowledge Summary

Patent

No data available

 GO Component (2)

Gene RIF (17)

PMID Text
26139570 The results suggest a role of changes in DMRT1 dosage in non-obstructive azoospermia potentially also through a process of gene misregulation, even though DMRT1 deleterious variants seem to be rare.
26005864 These show that DMRT proteins use a unique binding interaction, inserting two adjacent antiparallel recognition helices into a widened DNA major groove to make base-specific contacts.
25483589 The role of DMT1 in mitochondrial iron acquisition by immunofluorescence with mitochondrial markers in cells and isolated mitochondria, as well as flow cytometric quantification of DMT1-positive mitochondria from an inducible expression system.
24934491 Point mutations of DMRT1 may be rarely associated with male infertility.
23555275 The combined results indicate that DMRT1 loss-of-function mutations are a risk factor and potential genetic cause of human spermatogenic failure
23303528 Meiosis signalling is dysregulated in carcinoma in situ (CIS) cells and that a key regulator of the mitosis-meiosis switch, DMRT1, is expressed in 'early-stage' CIS cells but is down-regulated with further invasive transformation.
22939835 neither DMRT1 nor FGF9 abnormalities are frequently involved in dysgenetic male gonad development in patients with non-syndromic 46,XY disorder of sex development.
22899867 The biological importance of the changes in expression of DMRT1 in Sertoli cells remains to be established, but it is consistent with DMRT1 reinforcing the inhibition of meiosis in the testis.
21617256 variants in or near BAK1, DMRT1, TERT-CLPTM1L, and KITLG predispose to familial and bilateral TGCT.
21551455 Findings continue to corroborate that genes influencing male germ cell development and differentiation have emerged as the major players in inherited TGCT susceptibility.
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AA Sequence

MPNDEAFSKPSTPSEAPHAPGVPPQGRAGGFGKASGALVGAASGSSAGGSSRGGGSGSGASDLGAGSKKS      1 - 70
PRLPKCARCRNHGYASPLKGHKRFCMWRDCQCKKCNLIAERQRVMAAQVALRRQQAQEEELGISHPIPLP     71 - 140
SAAELLVKRENNGSNPCLMTECSGTSQPPPASVPTTAASEGRMVIQDIPAVTSRGHVENTPDLVSDSTYY    141 - 210
SSFYQPSLFPYYNNLYNCPQYSMALAADSASGEVGNPLGGSPVKNSLRGLPGPYVPGQTGNQWQMKNMEN    211 - 280
RHAMSSQYRMHSYYPPPSYLGQSVPQFFTFEDAPSYPEARASVFSPPSSQDSGLVSLSSSSPISNKSTKA    281 - 350
VLECEPASEPSSFTVTPVIEEDE                                                   351 - 373
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Text Mined References (36)

PMID Year Title
26139570 2015 Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure.
26005864 2015 An ancient protein-DNA interaction underlying metazoan sex determination.
25483589 2014 Mitochondria represent another locale for the divalent metal transporter 1 (DMT1).
24934491 2014 DMRT1 mutations are rarely associated with male infertility.
23666240 2013 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
23666239 2013 Meta-analysis identifies four new loci associated with testicular germ cell tumor.
23555275 2013 Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
23436708 2013 Scanning of novel cancer/testis proteins by human testis proteomic analysis.
23377640 2013 Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
23303528 2013 Dysregulation of the mitosis-meiosis switch in testicular carcinoma in situ.
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