Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. - sprookjes - yvandenbroek - TriplyDB

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

http://www.wikidata.org/entity/Q37210622

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Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.Functional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex.

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Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

http://www.wikidata.org/entity/Q37210622

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 09 June 2016

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

@da

vědecký článek

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name

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

@en

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

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type

label

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

@en

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

@nl

prefLabel

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

@en

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.

@nl

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Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation

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P2093

Charles Shaw-Smith

http://www.w3.org/2001/XMLSchema#string

Elisa de Franco

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Galvin H Swift

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Jayne A L Houghton

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Khalid Hussain

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Majedah Abdulrasoul

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Raymond J MacDonald

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Sarar Mohamed

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A new DNA binding and dimerization motif in immunoglobulin enhancer binding, daughterless, MyoD, and myc proteins

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

Mutations in PTF1A cause pancreatic and cerebellar agenesis

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.

Early pancreatic development requires the vertebrate Suppressor of Hairless (RBPJ) in the PTF1 bHLH complex

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.

A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency

GATA6 haploinsufficiency causes pancreatic agenesis in humans.

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

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2810-2815

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10.2337/DB15-1666

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9

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Andrew Tym Hattersley

Richard Caswell

Sarah E Flanagan

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2016-06-09T00:00:00Z

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27284104

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