(Q21092753)

Creative Commons CC0 License

GOA release 2020-03-11

6

Len A Pennacchio

Len A

Pennacchio

1 reference

15 August 2022

1

Nadav Ahituv

Nadav

Ahituv

1 reference

15 August 2022

3

Axel Visel

Axel

Visel

1 reference

15 August 2022

7

Edward M Rubin

Edward M

Rubin

1 reference

15 August 2022

4

Amy Holt

Amy

Holt

1 reference

15 August 2022

5

Veena Afzal

Veena

Afzal

1 reference

15 August 2022

Yiwen Zhu

2

Yiwen

Zhu

1 reference

15 August 2022

language of work or name

English

0 references

publication date

September 2007

0 references

published in

PLOS Biology

0 references

volume

5

0 references

issue

9

0 references

page(s)

e234

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copyright license

start time

4 September 2007

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

cites work

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Sox3 Is Required for Gonadal Function, but Not Sex Determination, in Males and Females

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Ultraconserved Elements in the Human Genome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

A bivalent chromatin structure marks key developmental genes in embryonic stem cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Control of developmental regulators by Polycomb in human embryonic stem cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

SOX3 is required during the formation of the hypothalamo-pituitary axis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

In vivo enhancer analysis of human conserved non-coding sequences

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

In situ hybridization of whole-mount embryos

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Conserved non-genic sequences - an unexpected feature of mammalian genomes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Comparative genomics at the vertebrate extremes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Prognosis of patients with unilateral renal agenesis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Noncoding sequences conserved in a limited number of mammals in the SIM2 interval are frequently functional

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

exma: an X-linked insertional mutation that disrupts forebrain and eye development.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Conserved noncoding sequences are selectively constrained and not mutation cold spots

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1964772

Associated urological anomalies in children with unilateral renal agenesis

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17803355

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PBIO.0050234

1 reference

release_zvd4b3ldcvbubkmkkesrjyta2e

1353065

Fatcat ID

0 references

1353065

1 reference

1 reference

1 reference