(Q33464906)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

title

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Leendert Looijenga

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

author name string

Remko Hersmus

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Bertie H C G M de Leeuw

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Hans Stoop

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Pascal Bernard

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Helena C van Doorn

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Hennie T Brüggenwirth

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

Stenvert L S Drop

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

J Wolter Oosterhuis

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

publication date

10 June 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

30 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

page(s)

1642-1649

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

30 January 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2987026/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Stem cell factor as a novel diagnostic marker for early malignant germ cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

FOXL2 and SOX9 as parameters of female and male gonadal differentiation in patients with various forms of disorders of sex development (DSD).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

The Y-encoded TSPY protein: a significant marker potentially plays a role in the pathogenesis of testicular germ cell tumors.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

OCT4: biological functions and clinical applications as a marker of germ cell neoplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

The makings of maleness: towards an integrated view of male sexual development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

TSPY potentiates cell proliferation and tumorigenesis by promoting cell cycle progression in HeLa and NIH3T3 cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Consensus statement on management of intersex disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Direct regulation of adult brain function by the male-specific factor SRY

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Homozygous inactivation of Sox9 causes complete XY sex reversal in mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Sertoli cell differentiation is induced both cell-autonomously and through prostaglandin signaling during mammalian sex determination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Genomic and gene expression signature of the pre-invasive testicular carcinoma in situ

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Diagnostic value of OCT3/4 for pre-invasive and invasive testicular germ cell tumours.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Testicular germ-cell tumours in a broader perspective.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Oct4 is required for primordial germ cell survival

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Pathobiological implications of the expression of markers of testicular carcinoma in situ by fetal germ cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Sry expression level and protein isoform differences play a role in abnormal testis development in C57BL/6J mice carrying certain Sry alleles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Evidence that Sry is expressed in pre-Sertoli cells and Sertoli and granulosa cells have a common precursor.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Gonadoblastoma, testicular and prostate cancers, and the TSPY gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Definition of a consensus DNA binding site for SRY.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Gonadoblastoma. A review of 74 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

SOX9 is up-regulated by the transient expression of SRY specifically in Sertoli cell precursors.

21 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.96

Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.96

Differentiation and development of human female germ cells during prenatal gonadogenesis: an immunohistochemical study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.96

A Cre gene directed by a human TSPY promoter is specific for germ cells and neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.96

A SOX9 defect of calmodulin-dependent nuclear import in campomelic dysplasia/autosomal sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.96

Chromosomal imbalances associated with carcinoma in situ and associated testicular germ cell tumours of adolescents and adults.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.96

Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.96

A model system for study of sex chromosome effects on sexually dimorphic neural and behavioral traits.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987026

Overrepresentation of the short arm of chromosome 12 is related to invasive growth of human testicular seminomas and nonseminomas

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19513096

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19513096%20AND%20SRC:MED&resulttype=core&format=json

30 January 2020

PubMed publication ID

19513096

1 reference