Sex determination and the Y chromosome (Q33869529)

29 July 2017

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title

Sex determination and the Y chromosome (English)

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29 July 2017

main subject

sex-determination system

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McElreavey K

1

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29 July 2017

Fellous M

series ordinal

2

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29 July 2017

publication date

1 December 1999

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American Journal of Medical Genetics Part A

29 July 2017

published in

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29 July 2017

volume

89

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29 July 2017

issue

4

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29 July 2017

page(s)

176-185

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

29 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain

21 January 2018

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True hermaphroditism with partial duplication of chromosome 22 and without SRY.

21 January 2018

1 reference

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Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males

21 January 2018

1 reference

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Steroidogenic factor-1 regulates transcription of the human anti-müllerian hormone receptor.

21 January 2018

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https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

21 January 2018

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A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

21 January 2018

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New POU dimer configuration mediates antagonistic control of an osteopontin preimplantation enhancer by Oct-4 and Sox-2

21 January 2018

1 reference

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Sry requires a CAG repeat domain for male sex determination in Mus musculus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

A De Novo Mutation (Gln2Stop) at the 5′ End of the SRY Gene Leads to Sex Reversal with Partial Ovarian Function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Mutations inSRY andSOX9: Testis-determining genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

21 January 2018

The human SRY transcript

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Nuclear Receptor DAX-1 Recruits Nuclear Receptor Corepressor N-CoR to Steroidogenic Factor 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

The activation function-2 hexamer of steroidogenic factor-1 is required, but not sufficient for potentiation by SRC-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Genetic control of primary sex determination in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Sex-determining genes on mouse autosomes identified by linkage analysis of C57BL/6J-YPOS sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

The HMG domain of lymphoid enhancer factor 1 bends DNA and facilitates assembly of functional nucleoprotein structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

DNA Binding Activity of Recombinant SRY from Normal Males and XY Females

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Definition of a consensus DNA binding site for SRY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

A familial mutation in the testis-determining gene SRY shared by both sexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Hypervariable digital DNA codes for human paternal lineages: MVR-PCR at the Y-specific minisatellite, MSY1 (DYF155S1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

A selective difference between human Y-chromosomal DNA haplotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Male-to-female sex reversal in M33 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Expression of a candidate sex-determining gene during mouse testis differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

WT-1 is required for early kidney development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Cooperative function of POU proteins and SOX proteins in glial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Sry interactive proteins: implication for the mechanisms of sex determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Functional interaction between the POU domain protein Tst-1/Oct-6 and the high-mobility-group protein HMG-I/Y

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Gene regulatory functions of Drosophila Fish-hook, a high mobility group domain Sox protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Sertoli cells and testicular differentiation in the rat fetus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

DNA-binding properties of the product of the testis-determining gene and a related protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Cryptorchidism in mice mutant for Insl3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

The roles of steroidogenic factor 1 in endocrine development and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Expression of the Wilms' tumor gene WT1 in the murine urogenital system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

The pseudoautosomal regions of the human sex chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Direct evidence that the mouse sex-determining gene Sry is expressed in the somatic cells of male fetal gonads and in the germ cell line in the adult testis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

POU domain family values: flexibility, partnerships, and developmental codes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Repression of the rat steroidogenic acute regulatory (StAR) protein gene by PGF2alpha is modulated by the negative transcription factor DAX-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Internal translation initiation generates novel WT1 protein isoforms with distinct biological properties

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y )XX males and (Y-)XY females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Two cases with interstitial deletions of chromosome 2 and sex reversal in one.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Two Independent Nuclear Localization Signals Are Present in the DNA-binding High-mobility Group Domains of SRY and SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Mammalian sex determination: a molecular drama

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Dax1 antagonizes Sry action in mammalian sex determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

POU domain transcription factors in embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

NMR spectroscopic analysis of the DNA conformation induced by the human testis determining factor SRY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Role of Ahch in gonadal development and gametogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Steroidogenic Factor 1: A Key Determinant of Endocrine Development and Function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

10.1002/(SICI)1096-8628(19991229)89:4<176::AID-AJMG2>3.0.CO;2-B

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference