Nature Search

A predictable conserved DNA base composition signature defines human core DNA replication origins

In metazoan the DNA sequence elements characterizing origin specification are unknown. By generating and analysing 19 SNS-seq datasets from different human cell types, the authors reveal a class and features of Core origins of replication which can be predicted by an algorithm.

Ildem Akerman
Bahar Kasaai
Marcel Méchali
ResearchOpen Access21 Sept 2020
Nature Communications

Volume: 11, P: 1-15
A heterozygous CEBPA mutation disrupting the bZIP domain in a RUNX1 and SRSF2 mutational background causes MDS disease progression

In Myeloiddysplastic syndromes, CEBPA mutations are linked to disease progression and AML. Here, the authors use somatic reprogramming and genome editing to generate isogenic cell lines from an MDS patient, identifying CEBPA bZIP domain disruption as causative for disease progression.

Ruba Almaghrabi
Alyahyawi Yara
Paloma Garcia
ResearchOpen Access01 Jul 2025
Nature Communications

Volume: 16, P: 1-22
GATA6 haploinsufficiency causes pancreatic agenesis in humans

Andrew Hattersley and colleagues report an exome sequencing study that identifies de novo heterozygous inactivating mutations in GATA6 as a common cause of pancreatic agenesis. This suggests an essential function for GATA6 in human pancreas development.

Hana Lango Allen
Sarah E Flanagan
Sian Ellard
Research11 Dec 2011
Nature Genetics

Volume: 44, P: 20-22
Author Correction: PDX1^LOW MAFA^LOW β-cells contribute to islet function and insulin release

Daniela Nasteska
Nicholas H. F. Fine
David J. Hodson
Amendments and CorrectionsOpen Access20 Jul 2021
Nature Communications

Volume: 12, P: 1
PDX1^LOW MAFA^LOW β-cells contribute to islet function and insulin release

Beta cell subpopulations with low expression in PDX1, MAFA, and insulin might contribute to islet function and insulin release. Here the authors show that altering the proportion of PDX1^LOW MAFA^LOW to PDX1^HIGH MAFA^HIGH cells impairs islet function.

Daniela Nasteska
Nicholas H. F. Fine
David J. Hodson
ResearchOpen Access29 Jan 2021
Nature Communications

Volume: 12, P: 1-19
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants

Jorge Ferrer and colleagues have mapped regulatory SNP variants associated in GWAS with type 2 diabetes risk and glycemic traits to large clusters of enhancer elements regulating the transcriptional identity of pancreatic β cells via a highly connected transcription factor network.

Lorenzo Pasquali
Kyle J Gaulton
Jorge Ferrer
Research12 Jan 2014
Nature Genetics

Volume: 46, P: 136-143

Search

A predictable conserved DNA base composition signature defines human core DNA replication origins

A heterozygous CEBPA mutation disrupting the bZIP domain in a RUNX1 and SRSF2 mutational background causes MDS disease progression

GATA6 haploinsufficiency causes pancreatic agenesis in humans

Author Correction: PDX1^LOW MAFA^LOW β-cells contribute to islet function and insulin release

PDX1^LOW MAFA^LOW β-cells contribute to islet function and insulin release

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants

Search

Quick links

Search

Filter By:

A predictable conserved DNA base composition signature defines human core DNA replication origins

A heterozygous CEBPA mutation disrupting the bZIP domain in a RUNX1 and SRSF2 mutational background causes MDS disease progression

GATA6 haploinsufficiency causes pancreatic agenesis in humans

Author Correction: PDX1LOW MAFALOW β-cells contribute to islet function and insulin release

PDX1LOW MAFALOW β-cells contribute to islet function and insulin release

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants

Search

Quick links

Author Correction: PDX1^LOW MAFA^LOW β-cells contribute to islet function and insulin release

PDX1^LOW MAFA^LOW β-cells contribute to islet function and insulin release