Mammalian sex determination—insights from humans and mice. - sprookjes - yvandenbroek - TriplyDB

Mammalian sex determination—insights from humans and mice.

Mammalian sex determination—insights from humans and mice.

http://www.wikidata.org/entity/Q27691819

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Sex determination: why so many ways of doing it?Building the mammalian testis: origins, differentiation, and assembly of the component cell populations Cell-autonomous sex determination outside of the gonad Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts.Disruption of mitotic arrest precedes precocious differentiation and transdifferentiation of pregranulosa cells in the perinatal Wnt4 mutant ovary A newborn with ambiguous genitalia and a complex X;Y rearrangement Disorders of sex development: new genes, new concepts.Regulation of male sex determination: genital ridge formation and Sry activation in mice.Primary sex determination of placental mammals: a modelling study uncovers dynamical developmental constraints in the formation of Sertoli and granulosa cells.Sex- and tissue-specific functions of Drosophila doublesex transcription factor target genes.A genome-wide association study points out the causal implication of SOX9 in the sex-reversal phenotype in XX pigs.Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 The first case of 38,XX (SRY-positive) disorder of sex development in a cat.Translational genetics for diagnosis of human disorders of sex development Identification of candidate gonadal sex differentiation genes in the chicken embryo using RNA-seq Stem cells, progenitor cells, and lineage decisions in the ovary.Epigenetic Alterations Affecting Transcription Factors and Signaling Pathways in Stromal Cells of Endometriosis A Boolean network model of human gonadal sex determination.Hormone Inhibition During Mini-Puberty and Testicular Function in Male Rats.The oncogenic roles of DICER1 RNase IIIb domain mutations in ovarian Sertoli-Leydig cell tumors.Evidence for multiple sex-determining loci in Tasmanian Atlantic salmon (Salmo salar)Clinical, hormonal and radiological profile of 46XY disorders of sexual development.The Genetic and Environmental Factors Underlying Hypospadias.Genetic Architecture of Sexual Dimorphism in Humans.Disorders of sex development: effect of molecular diagnostics.Aberrant gene-specific DNA methylation signature analysis in cervical cancer.Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling.Sex determination.Reduced cell size, chromosomal aberration and altered proliferation rates are characteristics and confounding factors in the STHdh cell model of Huntington disease.Evolutionary dynamics of Anolis sex chromosomes revealed by sequencing of flow sorting-derived microchromosome-specific DNA.Identification of the sex-determining locus in grass puffer (Takifugu niphobles) provides evidence for sex-chromosome turnover in a subset of Takifugu species.Genome-wide identification of regulatory elements in Sertoli cells.Rapid atraumatic sex identification of developmental day 14-16 mice.Expression pattern of clinically relevant markers in paediatric germ cell- and sex-cord stromal tumours is similar to adult testicular tumours.GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.

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Mammalian sex determination—insights from humans and mice.

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Mammalian sex determination—insights from humans and mice.

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P2860

Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determination

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene

Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/beta-catenin synergy

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10.1007/S10577-012-9274-3

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endocrine system

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Disorder of Sex Development, 46,XY

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