A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome (Q48010490)

7 February 2018

title

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome (English)

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7 February 2018

11

Bernd Wollnik

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7 February 2018

Filippo Beleggia

object named as

Filippo Beleggia

3

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author name string

Esther Pohl

1

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7 February 2018

Ayca Aykut

2

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7 February 2018

Emin Karaca

4

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7 February 2018

Burak Durmaz

5

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7 February 2018

Katharina Keupp

6

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7 February 2018

Esra Arslan

7

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7 February 2018

Melis Palamar

8

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7 February 2018

Gökhan Yigit

9

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7 February 2018

Ferda Özkinay

10

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7 February 2018

publication date

13 July 2013

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7 February 2018

published in

Human Genetics

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7 February 2018

volume

132

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7 February 2018

issue

11

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7 February 2018

page(s)

1311-1320

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7 February 2018

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1

cites work

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A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

The molecular basis of the undulated/Pax-1 mutation

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Getting your Pax straight: Pax proteins in development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

PAX genes: roles in development, pathophysiology, and cancer

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Evolution and role of Pax genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

The paired box encodes a second DNA-binding domain in the paired homeo domain protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-013-1337-9

Isolation of two tissue-specific Drosophila paired box genes, Pox meso and Pox neuro

21 January 2018

1 reference

12 December 2020

The gooseberry-zipper region of Drosophila: five genes encode different spatially restricted transcripts in the embryo.

1 reference

12 December 2020

The role of Pax-1 in axial skeleton development.

1 reference

12 December 2020

Conservation of the paired domain in metazoans and its structure in three isolated human genes

1 reference

12 December 2020

Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio-Oculo-Facial syndrome (BOFS)

1 reference

12 December 2020

Familial oto-facio-cervical dysmorphia

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12 December 2020

Pax1 is expressed during development of the thymus epithelium and is required for normal T-cell maturation.

1 reference

12 December 2020

The undulated mouse and the development of the vertebral column. Is there a human PAX-1 homologue?

1 reference

12 December 2020

10.1007/S00439-013-1337-9

Identifiers

DOI

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7 February 2018

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7 February 2018