Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome (Q73283525)

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2 November 2019

title

Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome (English)

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2 November 2019

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25 December 2023

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25 December 2023

4

Maximilian Muenke

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25 December 2023

author name string

Deepak Kamnasaran

1

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2 November 2019

Patricia C. O'Brien

2

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25 December 2023

Elaine H. Zackai

3

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Malcolm A. Ferguson-Smith

5

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25 December 2023

Diane W. Cox

6

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25 December 2023

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12700605

25 December 2023

publication date

1 April 2003

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full work available at URL

2 November 2019

https://www.nature.com/articles/5200963.pdf

file format

Portable Document Format

online access status

open access

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http://www.nature.com/articles/5200963.pdf

25 December 2023

file format

Portable Document Format

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DOI

https://api.crossref.org/works/10.1038/SJ.EJHG.5200963

http://www.nature.com/articles/5200963

25 December 2023

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DOI

https://api.crossref.org/works/10.1038/SJ.EJHG.5200963

European Journal of Human Genetics

25 December 2023

published in

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2 November 2019

volume

11

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2 November 2019

issue

4

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2 November 2019

page(s)

315-324

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200963

2 November 2019

exact match

0 references

cites work

Defining the breakpoints of proximal chromosome 14q rearrangements in nine patients using flow-sorted chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Current status of human chromosome 14

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Differential regulation of gene expression by PITX2 isoforms

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Pitx2 isoforms: involvement of Pitx2c but not Pitx2a or Pitx2b in vertebrate left-right asymmetry.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Mouse Otlx2/RIEG expression in the odontogenic epithelium precedes tooth initiation and requires mesenchyme-derived signals for its maintenance.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

The homeodomain gene Pitx2 is expressed in primitive hematopoietic stem/progenitor cells but not in their differentiated progeny

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Identification and characterization of the ARP1 gene, a target for the human acute leukemia ALL1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Pitx2a expression alters actin-myosin cytoskeleton and migration of HeLa cells through Rho GTPase signaling

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Nkx2-9 is a novel homeobox transcription factor which demarcates ventral domains in the developing mouse CNS.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

The L1-type cell adhesion molecule neuroglian influences the stability of neural ankyrin in the Drosophila embryo but not its axonal localization.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

440-kD ankyrinB: structure of the major developmentally regulated domain and selective localization in unmyelinated axons

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Midline and laterality defects: left and right meet in the middle

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Function of Rieger syndrome gene in left-right asymmetry and craniofacial development

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Otlx2, an Otx-related homeobox gene expressed in the pituitary gland and in a restricted pattern in the forebrain

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200963

7 January 2021

Identifiers

DOI

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2 November 2019

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