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Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD
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Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis
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HORMONE AND METABOLIC RESEARCH (2017)
DMRT proteins and coordination of mammalian spermatogenesis
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STEM CELL RESEARCH (2017)
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development
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SCIENTIFIC REPORTS (2017)
Regulation of mitosis-meiosis transition by the ubiquitin ligase β-TrCP in male germ cells
Tadashi Nakagawa et al.
DEVELOPMENT (2017)
Dmrt1 induces the male pathway in a turtle species with temperature-dependent sex determination
Chutian Ge et al.
DEVELOPMENT (2017)
Dmrt1 is necessary for male sexual development in zebrafish
Kaitlyn A. Webster et al.
DEVELOPMENTAL BIOLOGY (2017)
DMRT1 Is Required for Mouse Spermatogonial Stem Cell Maintenance and Replenishment
Teng Zhang et al.
PLOS GENETICS (2016)
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
Stefanie Eggers et al.
GENOME BIOLOGY (2016)
Sexual Cell-Fate Reprogramming in the Ovary by DMRT1
Robin E. Lindeman et al.
CURRENT BIOLOGY (2015)
Female-to-male sex reversal in mice caused by transgenic overexpression of Dmrt1
Liang Zhao et al.
DEVELOPMENT (2015)
An ancient protein-DNA interaction underlying metazoan sex determination
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NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)
An ancient protein-DNA interaction underlying metazoan sex determination
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NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)
The mammalian Doublesex homolog DMRT6 coordinates the transition between mitotic and meiotic developmental programs during spermatogenesis
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DEVELOPMENT (2014)
Pan-metazoan phylogeny of the DMRT gene family: a framework for functional studies
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DEVELOPMENT GENES AND EVOLUTION (2014)
Over-expression of DMRT1 induces the male pathway in embryonic chicken gonads
Luke S. Lambeth et al.
DEVELOPMENTAL BIOLOGY (2014)
DMRT1 Protects Male Gonadal Cells from Retinoid-Dependent Sexual Transdifferentiation
Anna Minkina et al.
DEVELOPMENTAL CELL (2014)
DMRT1 mutations are rarely associated with male infertility
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FERTILITY AND STERILITY (2014)
Phylogenetic Distribution and Evolutionary Dynamics of the Sex Determination Genes doublesex and transformer in Insects
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SEXUAL DEVELOPMENT (2014)
9p Partial Monosomy and Disorders of Sex Development: Review and Postulation of a Pathogenetic Mechanism
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Dorsally derived spinal interneurons in locomotor circuits
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A Wt1-Dmrt1 Transgene Restores DMRT1 to Sertoli Cells of Dmrt1-/- Testes: A Novel Model of DMRT1-Deficient Germ Cells
Valentine A. Agbor et al.
BIOLOGY OF REPRODUCTION (2013)
Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p
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EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)
A sex-specific transcription factor controls male identity in a simultaneous hermaphrodite
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NATURE COMMUNICATIONS (2013)
Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1
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PLOS GENETICS (2013)
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development
Susanne Ledig et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)
Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice
Lisa S. Andersson et al.
NATURE (2012)
Sex and the singular DM domain: insights into sexual regulation, evolution and plasticity
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NATURE REVIEWS GENETICS (2012)
The Mammalian DM Domain Transcription Factor Dmrta2 Is Required for Early Embryonic Development of the Cerebral Cortex
Daijiro Konno et al.
PLOS ONE (2012)
DMRT1 promotes oogenesis by transcriptional activation of Stra8 in the mammalian fetal ovary
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DEVELOPMENTAL BIOLOGY (2011)
EVOLUTION OF THE CLOSELY RELATED, SEX-RELATED GENES DM-W AND DMRT1 IN AFRICAN CLAWED FROGS (XENOPUS)
Adam J. Bewick et al.
EVOLUTION (2011)
A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility
Peter A. Kanetsky et al.
HUMAN MOLECULAR GENETICS (2011)
Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour
Christian P. Kratz et al.
JOURNAL OF MEDICAL GENETICS (2011)
DMRT1 prevents female reprogramming in the postnatal mammalian testis
Clinton K. Matson et al.
NATURE (2011)
Environmental Sex Determination in the Branchiopod Crustacean Daphnia magna: Deep Conservation of a Doublesex Gene in the Sex-Determining Pathway
Yasuhiko Kato et al.
PLOS GENETICS (2011)
An unbalanced autosomal translocation (7;9) associated with feminization
M. Crocker et al.
CLINICAL GENETICS (2010)
The Mammalian Doublesex Homolog DMRT1 Is a Transcriptional Gatekeeper that Controls the Mitosis versus Meiosis Decision in Male Germ Cells
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DEVELOPMENTAL CELL (2010)
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci
S. Ledig et al.
HUMAN REPRODUCTION (2010)
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer
Clare Turnbull et al.
NATURE GENETICS (2010)
Sex and the Single Cell. II. There Is a Time and Place for Sex
Carmen C. Robinett et al.
PLOS BIOLOGY (2010)
Somatic Sex Reprogramming of Adult Ovaries to Testes by FOXL2 Ablation
N. Henriette Uhlenhaut et al.
CELL (2009)
The avian Z-linked gene DMRT1 is required for male sex determination in the chicken
Craig A. Smith et al.
NATURE (2009)
The DM domain protein DMRT1 is a dose-sensitive regulator of fetal germ cell proliferation and pluripotency
Anthony D. Krentz et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
dmd-3, a doublesex-related gene regulated by tra-1, governs sex-specific morphogenesis in C. elegans
D. Adam Mason et al.
DEVELOPMENT (2008)
A W-linked DM-domain gene, DM-W, participates in primary ovary development in Xenopus laevis
Shin Yoshimoto et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Sex-specific differences in mouse DMRT1 expression are both cell type- and stage-dependent during gonad development
Ning Lei et al.
BIOLOGY OF REPRODUCTION (2007)
Cell type-autonomous and non-autonomous requirements for Dmrt1 in postnatal testis differentiation
Shinseog Kim et al.
DEVELOPMENTAL BIOLOGY (2007)
Vertebrate DM domain proteins bind similar DNA sequences and can heterodimerize on DNA
Mark W. Murphy et al.
BMC MOLECULAR BIOLOGY (2007)
A mammal-specific Doublesex homolog associates with male sex chromatin and is required for male meiosis
Shinseog Kim et al.
PLOS GENETICS (2007)
mRNA expression analysis and the molecular basis of neonatal testis defects in Dmrt1 mutant mice
U. Fahrioglu et al.
SEXUAL DEVELOPMENT (2007)
Mice mutant in the DM domain gene Dmrt4 are viable and fertile but have polyovular follicles
Jorune Balciuniene et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
Mice deficient in Dmrt7 show infertility with spermatogenic arrest at pachytene stage
Masaki Kawamata et al.
FEBS LETTERS (2006)
Male-biased expression of X-chromosomal DM domain-less Dmrt8 genes in the mouse
Anne-Marie Veith et al.
GENOMICS (2006)
Targeted disruption of the DM domain containing transcription factor Dmrt2 reveals an essential role in somite patterning
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DEVELOPMENTAL BIOLOGY (2006)
Homozygous inactivation of Sox9 causes complete XY sex reversal in mice
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BIOLOGY OF REPRODUCTION (2006)
Genomic and expression profiling of human spermatocytic seminomas: Primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene
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CANCER RESEARCH (2006)
Testicular germ-cell tumours in a broader perspective
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NATURE REVIEWS CANCER (2005)
Evolutionary origin of the medaka Y chromosome
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CURRENT BIOLOGY (2004)
Three patients with 9p deletions including DMRT1 and DMRT2:: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Genitourinary phenotype in XX patients with distal 9p monosomy
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MOLECULAR GENETICS AND METABOLISM (2004)
Oryzias curvinotus has DMY, a gene that is required for male development in the medaka, O. latipes
M Matsuda et al.
ZOOLOGICAL SCIENCE (2003)
Evolutionary dynamics of the DM domain gene family in metazoans
JN Volff et al.
JOURNAL OF MOLECULAR EVOLUTION (2003)
A duplicated copy of DMRT1 in the sex-determining region of the Y chromosome of the medaka, Oryzias latipes
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses
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JOURNAL OF MEDICAL GENETICS (2002)
DMY is a Y-specific DM-domain gene required for male development in the medaka fish
M Matsuda et al.
NATURE (2002)
Novel paralogy relations among human chromosomes support a link between the phylogeny of doublesex-related genes and the evolution of sex determination
C Ottolenghi et al.
GENOMICS (2002)
Female gonadal development in XX patients with distal 9p monosomy
T Ogata et al.
EUROPEAN JOURNAL OF ENDOCRINOLOGY (2001)
Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation
CS Raymond et al.
GENES & DEVELOPMENT (2000)
A new submicroscopic deletion that refines the 9p region for sex reversal
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GENOMICS (2000)
The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain
C Ottolenghi et al.
GENOMICS (2000)
Deletions of 9p and the quest for a conserved mechanism of sex determination
C Ottolenghi et al.
MOLECULAR GENETICS AND METABOLISM (2000)