(Q34158038)

31 July 2017

title

Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes (English)

1 reference

31 July 2017

1

Esther J Pearl

1 reference

31 July 2017

Zeina Jarikji

2

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31 July 2017

Marko E Horb

series ordinal

3

1 reference

31 July 2017

language of work or name

English

0 references

publication date

4 January 2011

1 reference

31 July 2017

published in

Developmental Biology

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31 July 2017

volume

351

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31 July 2017

issue

1

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31 July 2017

page(s)

135-145

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BrunoL1 regulates endoderm proliferation through translational enhancement of cyclin A2 mRNA

31 July 2017

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The transcription factor Rfx3 regulates beta-cell differentiation, function, and glucokinase expression

5 July 2018

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Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1

5 July 2018

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Rfx6 directs islet formation and insulin production in mice and humans

5 July 2018

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Rfx6 is an Ngn3-dependent winged helix transcription factor required for pancreatic islet cell development

5 July 2018

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

5 July 2018

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RFX2 is a candidate downstream amplifier of A-MYB regulation in mouse spermatogenesis

5 July 2018

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The Rfx4 transcription factor modulates Shh signaling by regional control of ciliogenesis

5 July 2018

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Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families

5 July 2018

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Xenopus insm1 is essential for gastrointestinal and pancreatic endocrine cell development

5 July 2018

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RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies

5 July 2018

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The transcription factor RFX protects MHC class II genes against epigenetic silencing by DNA methylation.

5 July 2018

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Differential expression of Rfx1-4 during mouse spermatogenesis

5 July 2018

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The tetraspanin Tm4sf3 is localized to the ventral pancreas and regulates fusion of the dorsal and ventral pancreatic buds

5 July 2018

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5 July 2018

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Technological advances in the study of HLA-DRA promoter regulation: extending the functions of CIITA, Oct-1, Rb, and RFX.

5 July 2018

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Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

5 July 2018

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Identification and characterization of novel human tissue-specific RFX transcription factors

5 July 2018

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Overview of neonatal diabetes.

5 July 2018

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Insulin gene mutations as a cause of permanent neonatal diabetes

5 July 2018

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Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

5 July 2018

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Neonatal diabetes mellitus: a disease linked to multiple mechanisms

5 July 2018

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Differential ability of Ptf1a and Ptf1a-VP16 to convert stomach, duodenum and liver to pancreas

5 July 2018

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Novel function of the ciliogenic transcription factor RFX3 in development of the endocrine pancreas

5 July 2018

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Generalization of DNA microarray dispersion properties: microarray equivalent of t-distribution

5 July 2018

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Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

5 July 2018

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5 July 2018

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Transcription factor RFX2 is abundant in rat testis and enriched in nuclei of primary spermatocytes where it appears to be required for transcription of the testis-specific histone H1t gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

New functions of the major histocompatibility complex class II-specific transcription factor RFXANK revealed by a high-resolution mutagenesis study

5 July 2018

1 reference

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Permanent neonatal diabetes in an Asian infant.

5 July 2018

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Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome

5 July 2018

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Mutations in PTF1A cause pancreatic and cerebellar agenesis

5 July 2018

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RFX2 is a potential transcriptional regulatory factor for histone H1t and other genes expressed during the meiotic phase of spermatogenesis

5 July 2018

1 reference

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Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

5 July 2018

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Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

5 July 2018

1 reference

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Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Neonatal and very-early-onset diabetes mellitus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

In vivo, RFX5 binds differently to the human leucocyte antigen-E, -F, and -G gene promoters and participates in HLA class I protein expression in a cell type-dependent manner.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Experimental conversion of liver to pancreas

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Major histocompatibility complex class II transcriptional platform: assembly of nuclear factor Y and regulatory factor X (RFX) on DNA requires RFX5 dimers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Characterization of variability in large-scale gene expression data: implications for study design

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Gene Expression Omnibus: NCBI gene expression and hybridization array data repository

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Transcription factor hepatocyte nuclear factor 6 regulates pancreatic endocrine cell differentiation and controls expression of the proendocrine gene ngn3

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

neurogenin3 is required for the development of the four endocrine cell lineages of the pancreas

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Long-term course of neonatal diabetes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

The first clinical case of a mutation at residue K185 of Kir6.2 (KCNJ11): a major ATP-binding residue

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.

28 October 2018

1 reference

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Transcription factor RFX4 binding to the testis-specific histone H1t promoter in spermatocytes may be important for regulation of H1t gene transcription during spermatogenesis.

28 October 2018

1 reference

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Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway

28 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.

28 October 2018

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The Onecut transcription factor HNF-6 (OC-1) is required for timely specification of the pancreas and acts upstream of Pdx-1 in the specification cascade

28 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Expression of amylase and other pancreatic genes in Xenopus.

28 October 2018

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A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Neonatal diabetes mellitus due to complete glucokinase deficiency

28 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3042741

Distinct pattern of lung gene expression in the Cftr-KO mice developing spontaneous lung disease compared with their littermate controls

28 October 2018

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Neonatal diabetes mellitus

28 October 2018

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Crossref

https://api.crossref.org/works/10.1016%2FJ.YDBIO.2010.12.043

An imprinted locus associated with transient neonatal diabetes mellitus

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YDBIO.2010.12.043

Characterization of the RFX complex and the RFX5(L66A) mutant: implications for the regulation of MHC class II gene expression

7 January 2021

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10.1016/J.YDBIO.2010.12.043

7 January 2021

Identifiers

DOI

1 reference

31 July 2017

1 reference

31 July 2017

1 reference