(Q49058323)

18 February 2018

title

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement. (English)

1 reference

18 February 2018

1 reference

4

Fowzan S Alkuraya

1 reference

18 February 2018

M Al-Shammari

1

1 reference

18 February 2018

M Al-Husain

series ordinal

2

1 reference

18 February 2018

T Al-Kharfy

series ordinal

3

1 reference

18 February 2018

publication date

1 August 2011

1 reference

18 February 2018

published in

Clinical Genetics

1 reference

18 February 2018

volume

80

1 reference

18 February 2018

issue

2

1 reference

18 February 2018

page(s)

196-198

1 reference

18 February 2018

Mutations in PTF1A cause pancreatic and cerebellar agenesis

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

Nkx6 transcription factors and Ptf1a function as antagonistic lineage determinants in multipotent pancreatic progenitors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

The bHLH protein PTF1-p48 is essential for the formation of the exocrine and the correct spatial organization of the endocrine pancreas

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

The role of the transcriptional regulator Ptf1a in converting intestinal to pancreatic progenitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

A nonclassical bHLH Rbpj transcription factor complex is required for specification of GABAergic neurons independent of Notch signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

Ptf1a, a bHLH transcriptional gene, defines GABAergic neuronal fates in cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

Cerebellar GABAergic progenitors adopt an external granule cell-like phenotype in the absence of Ptf1a transcription factor expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

PTF1 is an organ-specific and Notch-independent basic helix-loop-helix complex containing the mammalian Suppressor of Hairless (RBP-J) or its paralogue, RBP-L.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

Graded levels of Ptf1a differentially regulate endocrine and exocrine fates in the developing pancreas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

Reduction of Ptf1a gene dosage causes pancreatic hypoplasia and diabetes in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

Ptf1a is expressed transiently in all types of amacrine cells in the embryonic zebrafish retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

Ptf1a triggers GABAergic neuronal cell fates in the retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

Ptf1a is essential for the differentiation of GABAergic and glycinergic amacrine cells and horizontal cells in the mouse retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01613.X

10.1111/J.1399-0004.2010.01613.X

21 January 2018

Identifiers

DOI

1 reference

18 February 2018

1 reference

18 February 2018