A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice (Q36948295)

17 August 2017

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice (English)

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17 August 2017

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7

Lionel Van Maldergem

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Stefano Cianfarani

object named as

Stefano Cianfarani

6

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Dorothy Warburton

8

object named as

Dorothy Warburton

1 reference

17 August 2017

2

Marija Tadin-Strapps

1 reference

17 August 2017

Katherine A Fantauzzo

1

1 reference

17 August 2017

Yun You

3

1 reference

17 August 2017

Sarah E Mentzer

4

1 reference

17 August 2017

Friedrich A M Baumeister

5

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17 August 2017

John P Sundberg

9

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17 August 2017

Angela M Christiano

10

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17 August 2017

language of work or name

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19 August 2008

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17 August 2017

Human Molecular Genetics

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17 August 2017

17

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17 August 2017

22

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17 August 2017

3539-3551

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The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Long-range control of gene expression: emerging mechanisms and disruption in disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Modification of an existing chromosomal inversion to engineer a balancer for mouse chromosome 15.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho-rhino-phalangeal syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Loricrin expression in cultured human keratinocytes is controlled by a complex interplay between transcription factors of the Sp1, CREB, AP1, and AP2 families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

The transcriptional repressor Sp3 is associated with CK2-phosphorylated histone deacetylase 2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Transcriptional repression and developmental functions of the atypical vertebrate GATA protein TRPS1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Comprehensive human genetic maps: individual and sex-specific variation in recombination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

An Sp1-binding silencer element is a critical negative regulator of the megakaryocyte-specific alphaIIb gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

DEVELOPMENTAL MECHANISMS UNDERLYING THE FORMATION OF ATAVISMS

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

The promoter-specific transcription factor Sp1 binds to upstream sequences in the SV40 early promoter

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

On atavisms and atavistic genes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Isolation of cDNA encoding transcription factor Sp1 and functional analysis of the DNA binding domain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Analysis of Sp1 in vivo reveals multiple transcriptional domains, including a novel glutamine-rich activation motif

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Epstein-Barr virus transformation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Synergistic activation by the glutamine-rich domains of human transcription factor Sp1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

DNA looping and Sp1 multimer links: a mechanism for transcriptional synergism and enhancement

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Developmental expression of Sp1 in the mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

The trichorhinophalangeal syndrome: study of 16 patients in one family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Identical mutations and phenotypic variation

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Negative regulation of Sp1 trans-activation is correlated with the binding of cellular proteins to the amino terminus of the Sp1 trans-activation domain

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

DNA looping between sites for transcriptional activation: self-association of DNA-bound Sp1

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Trps1 regulates proliferation and apoptosis of chondrocytes through Stat3 signaling.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Expression of Trps1 during mouse embryonic development

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2572698

A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)

4 September 2018

1 reference

12 December 2020

Position effect in human genetic disease

1 reference

12 December 2020

Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency

1 reference

12 December 2020

FOXN1 is critical for onycholemmal terminal differentiation in nude (Foxn1) mice

1 reference

12 December 2020

Characterization of chromosomal inversion of the mouse hairy ears (Eh) mutation associated with cleft palate

1 reference

12 December 2020

Differentiation of Ambras syndrome from Hypertrichosis Universalis

1 reference

12 December 2020

Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome

1 reference

12 December 2020

Diagnosis of Ambras syndrome: comments on complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome

1 reference

12 December 2020

Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome

1 reference

12 December 2020

Ambras syndrome: report on two affected siblings with no prior family history

1 reference

12 December 2020

Tricho-rhino-phalangeal syndrome

1 reference

12 December 2020

Isolation of transcription factors that discriminate between different promoters recognized by RNA polymerase II

1 reference

12 December 2020

The hairy ears (Eh) mutation is closely associated with a chromosomal rearrangement in mouse chromosome 15

1 reference

12 December 2020

Suppressed recombination on mouse chromosome 15 defined regions of chromosomal inversions associated with koala (koa) and hairy ears (eh) mutations

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDN247

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

18713754

1 reference