Andy Greenfield
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View article: Gonadal sex reversal at single-cell resolution in <i>Znrf3</i>-deficient mice
Gonadal sex reversal at single-cell resolution in <i>Znrf3</i>-deficient mice Open
The role of anti-WNT ZNRF3 is central to determining gonadal fate: XY mice lacking functional ZNRF3 exhibit a highly variable gonadal sex reversal phenotype in the fetal period, characterised by appearance of ovarian tissue. To investigate…
View article: Preclinical research (on rare diseases): we need to talk about health equity
Preclinical research (on rare diseases): we need to talk about health equity Open
View article: PMON312 A De Novo Heterozygous Nonsense Variant In The SEC31A Gene Associated With Pituitary Hormone Deficiency And Disorders Of Sex Development.
PMON312 A De Novo Heterozygous Nonsense Variant In The SEC31A Gene Associated With Pituitary Hormone Deficiency And Disorders Of Sex Development. Open
Introduction XYdisorders of sex development (DSD) result from variants in many different human genes but frequently have no detectable molecular cause. In approximately 25% of cases of XY DSD, the index case may have associated malformatio…
View article: Origin, specification and differentiation of a rare supporting-like lineage in the developing mouse gonad
Origin, specification and differentiation of a rare supporting-like lineage in the developing mouse gonad Open
Gonadal sex determination represents a unique model for studying cell fate decisions. However, a complete understanding of the different cell lineages forming the developing testis and ovary remains elusive. Here, we investigated the origi…
View article: Gadd45g is required for timely Sry expression independently of RSPO1 activity
Gadd45g is required for timely Sry expression independently of RSPO1 activity Open
Sex determination in mammals is controlled by the dominance of either pro-testis (SRY-SOX9-FGF9) or pro-ovary (RSPO1-WNT4-FOXL2) genetic pathways during early gonad development in XY and XX embryos, respectively. We have previously shown t…
View article: Origin, specification and differentiation of a rare supporting-like lineage in the developing mouse gonad
Origin, specification and differentiation of a rare supporting-like lineage in the developing mouse gonad Open
Gonadal sex determination represents a unique model for studying cell fate decisions. However, a complete understanding of the different cell lineages forming the developing testis and ovary remains elusive. Here, we investigated the origi…
View article: Arrest of WNT/β-catenin signaling enables the transition from pluripotent to differentiated germ cells in mouse ovaries
Arrest of WNT/β-catenin signaling enables the transition from pluripotent to differentiated germ cells in mouse ovaries Open
Significance In the mammalian ovary, primordial germ cells maintain a genomic program associated with pluripotency until they stop proliferating, move toward oogenesis, and enter meiosis. The molecular mechanisms that enable primordial ger…
View article: ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 update
ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 update Open
View article: Cloning, mitochondrial replacement and genome editing: 25 years of ethical debate since Dolly
Cloning, mitochondrial replacement and genome editing: 25 years of ethical debate since Dolly Open
The birth of Dolly the sheep in 1996 elicited a tsunami of commentaries, both in the popular media and academic journals, including responses to the prospect of human reproductive cloning. Much of the anxiety expressed over this imagined c…
View article: Protection Against XY Gonadal Sex Reversal by a Variant Region on Mouse Chromosome 13
Protection Against XY Gonadal Sex Reversal by a Variant Region on Mouse Chromosome 13 Open
XY C57BL/6J (B6) mice harboring a Mus musculus domesticus-type Y chromosome (YPOS), known as B6.YPOS mice, commonly undergo gonadal sex reversal and develop as phenotypic females. In a minority of cases, B6.YPOS males are identified and a …
View article: Male mice lacking ADAMTS-16 are fertile but exhibit testes of reduced weight
Male mice lacking ADAMTS-16 are fertile but exhibit testes of reduced weight Open
View article: Addressing gaps in care of people with conditions affecting sex development and maturation
Addressing gaps in care of people with conditions affecting sex development and maturation Open
View article: Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome Open
DHX37 pathogenic variants are a new cause of an autosomal dominant form of 46,XY DSD, including gonadal dysgenesis and TRS, showing that these conditions are part of a clinical spectrum. This raises the possibility that some forms of DSD m…
View article: Dissecting Cell Lineage Specification and Sex Fate Determination in Gonadal Somatic Cells Using Single-Cell Transcriptomics
Dissecting Cell Lineage Specification and Sex Fate Determination in Gonadal Somatic Cells Using Single-Cell Transcriptomics Open
Sex determination is a unique process that allows the study of multipotent progenitors and their acquisition of sex-specific fates during differentiation of the gonad into a testis or an ovary. Using time series single-cell RNA sequencing …
View article: Characterizing the bipotential mammalian gonad
Characterizing the bipotential mammalian gonad Open
View article: Characterisation and use of a functional Gadd45g bacterial artificial chromosome
Characterisation and use of a functional Gadd45g bacterial artificial chromosome Open
View article: Single-cell transcriptomics of the mouse gonadal soma reveals the establishment of sexual dimorphism in distinct cell lineages
Single-cell transcriptomics of the mouse gonadal soma reveals the establishment of sexual dimorphism in distinct cell lineages Open
Summary Sex determination is a unique process that allows the study of multipotent progenitors and their acquisition of sex-specific fates during differentiation of the gonad into a testis or an ovary. Using time-series single-cell RNA seq…
View article: CRISPR-Cas9-Mediated Mutagenesis: Mind the Gap?
CRISPR-Cas9-Mediated Mutagenesis: Mind the Gap? Open
well as dogged in our efforts to build trusting and trustworthy alliances among scientists, publics, and those engaged in governance.This is anything but a blank check to scientists.This is a call to sincere engagement and fundamental cult…
View article: Carry on editing
Carry on editing Open
View article: GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’
GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’ Open
The differential diagnosis of differences or disorders of sex development (DSD) belongs to the most complex fields in medicine. It requires a multidisciplinary team conducting a synoptic and complementary approach consisting of thorough cl…
View article: Correction: Corrigendum: Assisted reproductive technologies to prevent human mitochondrial disease transmission
Correction: Corrigendum: Assisted reproductive technologies to prevent human mitochondrial disease transmission Open
View article: Carry on editing
Carry on editing Open
In addition to offering new insights into human biology, basic (fundamental) research will deliver expertise allowing ever more precise and controllable genome editing methodologies and allied technologies. A range of clear and accessible …
View article: ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling Open
Significance Sex determination involves antagonistic interactions between the testis-determining (SRY-SOX9-FGF9) and ovary-promoting (RSPO1-WNT/β-catenin-FOXL2) pathways, but the underlying molecular mechanisms remain unclear. We show that…
View article: Erratum: Corrigendum: Assisted reproductive technologies to prevent human mitochondrial disease transmission
Erratum: Corrigendum: Assisted reproductive technologies to prevent human mitochondrial disease transmission Open
View article: Loss of p300 and CBP disrupts histone acetylation at the mouse Sry promoter and causes XY gonadal sex reversal
Loss of p300 and CBP disrupts histone acetylation at the mouse Sry promoter and causes XY gonadal sex reversal Open
CREB-binding protein (CBP, CREBBP, KAT3A) and its closely related paralogue p300 (EP300, KAT3B), together termed p300/CBP, are histone/lysine acetyl-transferases that control gene expression by modifying chromatin-associated proteins. Here…
View article: Genetic Disruption of 21-Hydroxylase in Zebrafish Causes Interrenal Hyperplasia
Genetic Disruption of 21-Hydroxylase in Zebrafish Causes Interrenal Hyperplasia Open
Congenital adrenal hyperplasia is a group of common inherited disorders leading to glucocorticoid deficiency. Most cases are caused by 21-hydroxylase deficiency (21OHD). The systemic consequences of imbalanced steroid hormone biosynthesis …
View article: Genetic Analyses Reveal Functions for MAP2K3 and MAP2K6 in Mouse Testis Determination1
Genetic Analyses Reveal Functions for MAP2K3 and MAP2K6 in Mouse Testis Determination1 Open
Testis determination in mammals is initiated by expression of SRY in somatic cells of the embryonic gonad. Genetic analyses in the mouse have revealed a requirement for mitogen-activated protein kinase (MAPK) signaling in testis determinat…