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GATA6 haploinsuffic...
GATA6 haploinsufficiency causes pancreatic agenesis in humans.
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Allen, Hana Lango (author)
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Flanagan, Sarah E (author)
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Shaw-Smith, Charles (author)
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De Franco, Elisa (author)
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Akerman, Ildem (author)
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Caswell, Richard (author)
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Ferrer, Jorge (author)
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Hattersley, Andrew T (author)
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Ellard, Sian (author)
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- Adolfsson, Peter, 1963 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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(creator_code:org_t)
- 2011-12-11
- 2012
- English.
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In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:1, s. 20-2
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Abstract
Subject headings
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- Understanding the regulation of pancreatic development is key for efforts to develop new regenerative therapeutic approaches for diabetes. Rare mutations in PDX1 and PTF1A can cause pancreatic agenesis, however, most instances of this disorder are of unknown origin. We report de novo heterozygous inactivating mutations in GATA6 in 15/27 (56%) individuals with pancreatic agenesis. These findings define the most common cause of human pancreatic agenesis and establish a key role for the transcription factor GATA6 in human pancreatic development.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Keyword
- GATA6 Transcription Factor
- genetics
- Haploinsufficiency
- Humans
- Pancreas
- abnormalities
- Phenotype
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Allen, Hana Lang ...
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Flanagan, Sarah ...
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Shaw-Smith, Char ...
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De Franco, Elisa
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Akerman, Ildem
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Caswell, Richard
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show more...
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Ferrer, Jorge
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Hattersley, Andr ...
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Ellard, Sian
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Adolfsson, Peter ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
- Articles in the publication
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Nature genetics
- By the university
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University of Gothenburg