(Q81152665)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18436707%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

review article

1 reference

title

Neonatal diabetes mellitus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18436707%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

author name string

Lydia Aguilar-Bryan

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18436707%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

Joseph Bryan

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18436707%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

publication date

24 April 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18436707%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18436707%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18436707%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18436707%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

page(s)

265-291

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18436707%20AND%20SRC:MED&resulttype=core&format=json

Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism

6 January 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Enhancement of p53-dependent gene activation by the transcriptional coactivator Zac1

1 reference

12 December 2020

Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation.

1 reference

12 December 2020

Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes

1 reference

12 December 2020

Molecular basis for K(ATP) assembly: transmembrane interactions mediate association of a K+ channel with an ABC transporter

1 reference

12 December 2020

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy

1 reference

12 December 2020

New ABCC8 mutations in relapsing neonatal diabetes and clinical features

1 reference

12 December 2020

Proximal C-terminal domain of sulphonylurea receptor 2A interacts with pore-forming Kir6 subunits in KATP channels

1 reference

12 December 2020

Transplacental passage of insulin complexed to antibody

1 reference

12 December 2020

Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation i

1 reference

12 December 2020

Transient neonatal diabetes mellitus. Treatment with chlorpropamide

1 reference

12 December 2020

Phosphoinositides decrease ATP sensitivity of the cardiac ATP-sensitive K(+) channel. A molecular probe for the mechanism of ATP-sensitive inhibition

1 reference

12 December 2020

Association and stoichiometry of K(ATP) channel subunits

1 reference

12 December 2020

Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis

1 reference

12 December 2020

Congenital Temporary Diabetes Mellitus

1 reference

12 December 2020

Genetics of type 2 diabetes: insight from targeted mouse mutants

1 reference

12 December 2020

Ptf1a and RBP-J cooperate in activating Pdx1 gene expression through binding to Area III

1 reference

12 December 2020

Transient neonatal diabetes, a disorder of imprinting.

1 reference

12 December 2020

Transient neonatal diabetes mellitus in a pair of twins

1 reference

12 December 2020

Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia

1 reference

12 December 2020

The mammalian unfolded protein response

1 reference

12 December 2020

Of mice and men: K(ATP) channels and insulin secretion

1 reference

12 December 2020

Subunit stoichiometry of the pancreatic β-cell ATP-sensitive K+ channel

1 reference

12 December 2020

The p48 DNA-binding subunit of transcription factor PTF1 is a new exocrine pancreas-specific basic helix-loop-helix protein

1 reference

12 December 2020

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy

1 reference

12 December 2020

Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11

1 reference

12 December 2020

Molecular mechanism for ATP-dependent closure of the K+ channel Kir6.2

1 reference

12 December 2020

Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young

1 reference

12 December 2020

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

1 reference

12 December 2020

Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon.

1 reference

12 December 2020

Metabolic and Growth Patterns in Transient Neonatal Diabetes

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial diabetes: molecular mechanisms and clinical presentation

1 reference

12 December 2020

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

1 reference

12 December 2020

Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene

1 reference

12 December 2020

Ptf1a binds to and activates area III, a highly conserved region of the Pdx1 promoter that mediates early pancreas-wide Pdx1 expression

1 reference

12 December 2020

Ionic channel function in action potential generation: current perspective

1 reference

12 December 2020

Major difference in aetiology and phenotypic abnormalities between transient and permanent neonatal diabetes

1 reference

12 December 2020

Regulation of translational initiation during cellular responses to stress

1 reference

12 December 2020

Intracellular signaling by the unfolded protein response

1 reference

12 December 2020

Neonatal and very-early-onset diabetes mellitus

1 reference

12 December 2020

Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

1 reference

12 December 2020

Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

1 reference

12 December 2020

Signaling in channel/enzyme multimers: ATPase transitions in SUR module gate ATP-sensitive K+ conductance

1 reference

12 December 2020

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

1 reference

12 December 2020

Low birthweight and adult insulin resistance: the "catch-up growth" hypothesis

1 reference

12 December 2020

Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor

1 reference

12 December 2020

Cdkn1c (p57Kip2) is the major regulator of embryonic growth within its imprinted domain on mouse distal chromosome 7.

1 reference

12 December 2020

Insulin-anti-insulin complexes in diabetic women and their neonates

1 reference

12 December 2020

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions

1 reference

12 December 2020

Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days

1 reference

12 December 2020

Neonatal Diabetes Mellitus -- genetic aspects 2004.

1 reference

12 December 2020

ATP-sensitive potassium channels participate in glucose uptake in skeletal muscle and adipose tissue

1 reference

12 December 2020

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

1 reference

12 December 2020

The role for endoplasmic reticulum stress in diabetes mellitus

1 reference

12 December 2020

The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R2

1 reference

12 December 2020

Permanent neonatal diabetes in an Asian infant.

1 reference

12 December 2020

Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

1 reference

12 December 2020

Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.

1 reference

12 December 2020

Protein translation and folding are coupled by an endoplasmic-reticulum-resident kinase

1 reference

12 December 2020

Allele specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprinting.

1 reference

12 December 2020

Disruption of Sur2-containing K(ATP) channels enhances insulin-stimulated glucose uptake in skeletal muscle

1 reference

12 December 2020

A mutation in the insulin 2 gene induces diabetes with severe pancreatic beta-cell dysfunction in the Mody mouse

1 reference

12 December 2020

Placental Barrier to Human Insulin-I125in Insulin-Dependent Diabetic Mothers*

1 reference

12 December 2020

A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome

1 reference

12 December 2020

Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus

1 reference

12 December 2020

A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels

1 reference

12 December 2020

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

1 reference

12 December 2020

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

1 reference

12 December 2020

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

1 reference

12 December 2020

Impact of PPARgamma overexpression and activation on pancreatic islet gene expression profile analyzed with oligonucleotide microarrays

1 reference

12 December 2020

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

1 reference

12 December 2020

A novel ABCC8 (SUR1)-dependent mechanism of metabolism-excitation uncoupling

1 reference

12 December 2020

Navigating the pathway from embryonic stem cells to beta cells.

1 reference

12 December 2020

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

1 reference

12 December 2020

ATP-sensitive K+ channels in the hypothalamus are essential for the maintenance of glucose homeostasis.

1 reference

12 December 2020

IPF1, a homeodomain protein with a dual function in pancreas development.

1 reference

12 December 2020

K(ATP) channels "vingt ans après": ATG to PDB to Mechanism

1 reference

12 December 2020

Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes

1 reference

12 December 2020

A novel sulfonylurea receptor forms with BIR (Kir6.2) a smooth muscle type ATP-sensitive K+ channel

1 reference

12 December 2020

Small for gestational age: short stature and beyond

1 reference

12 December 2020

Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic development

1 reference

12 December 2020

Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

1 reference

12 December 2020

Is human insulin imprinted?

1 reference

12 December 2020

Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?

1 reference

12 December 2020

Toward linking structure with function in ATP-sensitive K+ channels

1 reference

12 December 2020

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy

1 reference

12 December 2020

The expression of the antiproliferative gene ZAC is lost or highly reduced in nonfunctioning pituitary adenomas.

1 reference

12 December 2020

The beta cell transcription factors and development of the pancreas

1 reference

12 December 2020

Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2.

1 reference

12 December 2020

Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene

1 reference

12 December 2020

Neonatal diabetes mellitus due to complete glucokinase deficiency

1 reference

12 December 2020

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

1 reference

12 December 2020

Transcriptional activities of the zinc finger protein Zac are differentially controlled by DNA binding

1 reference

12 December 2020

Translational control is required for the unfolded protein response and in vivo glucose homeostasis

1 reference

12 December 2020

Wolcott-Rallison syndrome

1 reference

12 December 2020

HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment

1 reference

12 December 2020

Molecular basis of neonatal diabetes in Japanese patients.

1 reference

12 December 2020

1 reference

12 December 2020

UCSF Chimera--a visualization system for exploratory research and analysis

1 reference

12 December 2020

Pancreatic beta-cell-specific targeted disruption of glucokinase gene. Diabetes mellitus due to defective insulin secretion to glucose

1 reference

12 December 2020

The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas

1 reference

12 December 2020

Expression of peroxisome proliferator-activated receptor γ (PPARγ) in normal human pancreatic islet cells

1 reference

12 December 2020

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

1 reference

12 December 2020

PERK EIF2AK3 control of pancreatic beta cell differentiation and proliferation is required for postnatal glucose homeostasis.

1 reference

12 December 2020

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

1 reference

12 December 2020

ATP4- mediates closure of pancreatic beta-cell ATP-sensitive potassium channels by interaction with 1 of 4 identical sites

1 reference

12 December 2020

Kir6.2 polymorphisms sensitize beta-cell ATP-sensitive potassium channels to activation by acyl CoAs: a possible cellular mechanism for increased susceptibility to type 2 diabetes?

1 reference

12 December 2020

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes

1 reference

12 December 2020

Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy

1 reference

12 December 2020

Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations

1 reference

12 December 2020

Octameric stoichiometry of the KATP channel complex

1 reference

12 December 2020

Liver and kidney function in Japanese patients with maturity-onset diabetes of the young

1 reference

12 December 2020

Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes

1 reference

12 December 2020

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

1 reference

12 December 2020

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.

1 reference

12 December 2020

An adenylate kinase is involved in KATP channel regulation of mouse pancreatic beta cells

1 reference

12 December 2020

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

1 reference

12 December 2020

Genetics of congenital hyperinsulinism

1 reference

12 December 2020

GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions

1 reference

12 December 2020

Early-onset type-II diabetes mellitus (MODY4) linked to IPF1

1 reference

12 December 2020

Autopsy findings in the Wolcott-Rallison syndrome

1 reference

12 December 2020

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes

1 reference

12 December 2020

Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6

1 reference

12 December 2020

Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice

1 reference

12 December 2020

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

1 reference

12 December 2020

Glucokinase, glucose homeostasis, and diabetes mellitus

1 reference

12 December 2020

Targeted elimination of peroxisome proliferator-activated receptor gamma in beta cells leads to abnormalities in islet mass without compromising glucose homeostasis

1 reference

12 December 2020

Signal integration in the endoplasmic reticulum unfolded protein response

1 reference

12 December 2020

Flexibility in the ABC transporter MsbA: Alternating access with a twist

1 reference

12 December 2020

Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.

1 reference

12 December 2020

Antepartum findings and obstetric aspects in pregnancies followed by neonatal persistent hyperinsulinemic hypoglycemia

1 reference

12 December 2020

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

1 reference

12 December 2020

Sur domains that associate with and gate KATP pores define a novel gatekeeper

1 reference

12 December 2020

ABCC8 and ABCC9: ABC transporters that regulate K+ channels

1 reference

12 December 2020

Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature

1 reference

12 December 2020

[Endocrine-induced forms of hypoglycemia]

1 reference

12 December 2020

Effect of PPAR-gamma activation and inhibition on glucose-stimulated insulin release in INS-1e cells

1 reference

12 December 2020

Weight and length at birth of infants of diabetic mothers.

1 reference

12 December 2020

IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena

1 reference

12 December 2020

A positive feedback mechanism in the transcriptional activation of Apaf-1 by p53 and the coactivator Zac-1.

1 reference

12 December 2020

Class A helix-loop-helix proteins are positive regulators of several cyclin-dependent kinase inhibitors' promoter activity and negatively affect cell growth.

1 reference

12 December 2020

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

1 reference

12 December 2020

A view of sur/KIR6.X, KATP channels

1 reference

12 December 2020

Human insulin gene is a target gene of hepatocyte nuclear factor-1alpha (HNF-1alpha) and HNF-1beta

1 reference

12 December 2020

Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases.

1 reference

12 December 2020

Low birth weight in combination with catch-up growth predicts the occurrence of the metabolic syndrome in men at late middle age: the Atherosclerosis and Insulin Resistance study

1 reference

12 December 2020

Regulatory T cells in the control of immune pathology.

1 reference

12 December 2020

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

1 reference

12 December 2020

Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis

1 reference

12 December 2020

IPF1, a homeodomain-containing transactivator of the insulin gene

1 reference

12 December 2020

Neonatal diabetes: new insights into aetiology and implications

1 reference

12 December 2020

Selective deletion of the Hnf1beta (MODY5) gene in beta-cells leads to altered gene expression and defective insulin release

1 reference

12 December 2020

Multitasking C2H2 zinc fingers link Zac DNA binding to coordinated regulation of p300-histone acetyltransferase activity

1 reference

12 December 2020

Gene targeting approach to clarification of ion channel function: studies of Kir6.x null mice

1 reference

12 December 2020

Familial hyperinsulinism caused by an activating glucokinase mutation

1 reference

12 December 2020

Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus

1 reference

12 December 2020

Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.

1 reference

12 December 2020

The Kir6.2-F333I mutation differentially modulates KATP channels composed of SUR1 or SUR2 subunits

1 reference

12 December 2020

Two distinct mechanisms of silencing by the KvDMR1 imprinting control region

1 reference

12 December 2020

Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome

1 reference

12 December 2020

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

1 reference

12 December 2020

A transcriptional network in polycystic kidney disease

1 reference

12 December 2020

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

1 reference

12 December 2020

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission

1 reference

12 December 2020

Mutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3.

1 reference

12 December 2020

X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.

1 reference

12 December 2020

A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels

1 reference

12 December 2020

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment

1 reference

12 December 2020

Comprehensive search for HNF-1beta-regulated genes in mouse hepatoma cells perturbed by transcription regulatory factor-targeted RNAi

1 reference

12 December 2020

Neonatal diabetes mellitus in first cousins

1 reference

12 December 2020

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

1 reference

12 December 2020

hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer

1 reference

12 December 2020

Neonatal diabetes mellitus: a disease linked to multiple mechanisms

1 reference

12 December 2020

The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.

1 reference

12 December 2020

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

1 reference

12 December 2020

What is the significance of macrosomia?

1 reference

12 December 2020

Molecular genetics of autosomal recessive polycystic kidney disease

1 reference

12 December 2020

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months

1 reference

12 December 2020

Regulation of apoptosis and cell cycle arrest by Zac1, a novel zinc finger protein expressed in the pituitary gland and the brain

1 reference

12 December 2020

Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion

1 reference

12 December 2020

Scurfin (FOXP3) acts as a repressor of transcription and regulates T cell activation

1 reference

12 December 2020

Phosphocreatine as a determinant of K(ATP) channel activity in pancreatic beta-cells

1 reference

12 December 2020

[Current percentile curves for body weight, body length and head circumference of newborn infants after the 25th week of pregnancy]

1 reference

12 December 2020

Transient and permanent neonatal diabetes

1 reference

12 December 2020

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

1 reference

12 December 2020

Transient diabetes of the newborn

1 reference

12 December 2020

Proteotoxicity in the endoplasmic reticulum: lessons from the Akita diabetic mouse

1 reference

12 December 2020

Different faces of non-autoimmune diabetes of infancy

1 reference

12 December 2020

Glucokinase and glucose homeostasis: proven concepts and new ideas

1 reference

12 December 2020

Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.

1 reference

12 December 2020

Mechanism of cloned ATP-sensitive potassium channel activation by oleoyl-CoA

1 reference

12 December 2020

PIP2 and PIP as determinants for ATP inhibition of KATP channels

1 reference

12 December 2020

Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus

1 reference

12 December 2020

Transcriptional networks controlling pancreatic development and beta cell function.

1 reference

12 December 2020

Evidence for a Unique Long Chain Acyl-CoA Ester Binding Site on the ATP-regulated Potassium Channel in Mouse Pancreatic Beta Cells

1 reference

12 December 2020

Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion

1 reference

12 December 2020

Structure of the multidrug ABC transporter Sav1866 from Staphylococcus aureus in complex with AMP-PNP

1 reference

12 December 2020

Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy

1 reference

12 December 2020

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

1 reference

12 December 2020

Sulphonylurea receptor 2B and Kir6.1 form a sulphonylurea-sensitive but ATP-insensitive K+ channel

1 reference

12 December 2020

An imprinted gene(s) for diabetes?

1 reference

12 December 2020

Loss of expression of the candidate tumor suppressor gene ZAC in breast cancer cell lines and primary tumors

1 reference

12 December 2020

A vHNF1/TCF2-HNF6 cascade regulates the transcription factor network that controls generation of pancreatic precursor cells.

1 reference

12 December 2020

Molecular machinery governing GABAergic neuron specification in the cerebellum

1 reference

12 December 2020

The C terminus of SUR1 is required for trafficking of KATP channels

1 reference

12 December 2020

Regulation of glucagon secretion at low glucose concentrations: evidence for adenosine triphosphate-sensitive potassium channel involvement

1 reference

12 December 2020

Insulin gene mutations as a cause of permanent neonatal diabetes

1 reference

12 December 2020

Sulfonylurea receptor type 1 knock-out mice have intact feeding-stimulated insulin secretion despite marked impairment in their response to glucose

1 reference

12 December 2020

ATP-binding cassette transporters in bacteria

1 reference

12 December 2020

Dominant-Negative Effects of a Novel Mutated Ins2 Allele Causes Early-Onset Diabetes and Severe -Cell Loss in Munich Ins2C95S Mutant Mice

1 reference

12 December 2020

Characterization of a mutant pancreatic eIF-2alpha kinase, PEK, and co-localization with somatostatin in islet delta cells

1 reference

12 December 2020

3-D structural and functional characterization of the purified KATP channel complex Kir6.2-SUR1.

1 reference

12 December 2020

Serum levels of adiponectin and IGFBP-1 in short children born small for gestational age.

1 reference

12 December 2020

Molecular mechanisms of neonatal hyperinsulinism

1 reference

12 December 2020

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

1 reference

12 December 2020

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

1 reference

12 December 2020

Foxp3 interacts with nuclear factor of activated T cells and NF-kappa B to repress cytokine gene expression and effector functions of T helper cells

1 reference

12 December 2020

Minireview: transcriptional regulation in pancreatic development

1 reference

12 December 2020

Sulfonylurea-Responsive Diabetes in Childhood

1 reference

12 December 2020

Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

1 reference

12 December 2020

Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels

1 reference

12 December 2020

Tandem function of nucleotide binding domains confers competence to sulfonylurea receptor in gating ATP-sensitive K+ channels.

1 reference

12 December 2020

Reversible phosphorylation of eukaryotic initiation factor 2 alpha in response to endoplasmic reticular signaling

1 reference

12 December 2020

Structural Basis of Disease-Causing Mutations in Hepatocyte Nuclear Factor 1β † , ‡

1 reference

12 December 2020

Five years on the wings of fork head

1 reference

12 December 2020

An imprinted locus associated with transient neonatal diabetes mellitus

1 reference

12 December 2020

Serum adiponectin levels, insulin resistance, and lipid profile in children born small for gestational age are affected by the severity of growth retardation at birth.

1 reference

12 December 2020

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

12 December 2020

The N-terminus of KIR6.2 limits spontaneous bursting and modulates the ATP-inhibition of KATP channels.

1 reference

12 December 2020

Molecular biology of adenosine triphosphate-sensitive potassium channels

1 reference

12 December 2020

Lack of TCF2/vHNF1 in mice leads to pancreas agenesis

1 reference

12 December 2020

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Sulfonylrea treatment in permanent neonatal diabetes due to G53D mutation in the KCNJ11 gene: improvement in glycemic control and neurological function

1 reference

12 December 2020

N-terminal transmembrane domain of the SUR controls trafficking and gating of Kir6 channel subunits

1 reference

12 December 2020

Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1

1 reference

12 December 2020

JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome

1 reference

12 December 2020

Aetiopathology and genetic basis of neonatal diabetes

1 reference

12 December 2020

KATP channels gated by intracellular nucleotides and phospholipids

1 reference

12 December 2020

ATP and sulfonylurea sensitivity of mutant ATP-sensitive K+ channels in neonatal diabetes: implications for pharmacogenomic therapy

1 reference

12 December 2020

Toward understanding the assembly and structure of KATP channels

1 reference

12 December 2020

Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor.

1 reference

12 December 2020

New insights in the molecular pathogenesis of the maternally inherited diabetes and deafness syndrome

1 reference

12 December 2020

Pancreatic beta-cell glucokinase: closing the gap between theoretical concepts and experimental realities.

1 reference

12 December 2020

ATP inhibition of KATP channels: control of nucleotide sensitivity by the N-terminal domain of the Kir6.2 subunit

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis of polycystic kidney disease: PKD1, PKD2 and PKHD1.

1 reference

12 December 2020

Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3.

1 reference

12 December 2020

Peroxisome proliferator-activated receptor gamma is a Zac target gene mediating Zac antiproliferation

1 reference

12 December 2020

Epigenetic silencing of the imprinted gene ZAC by DNA methylation is an early event in the progression of human ovarian cancer

1 reference

12 December 2020

What are the roles of the many different types of potassium channel expressed in cerebellar granule cells?

1 reference

12 December 2020

Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity

1 reference

12 December 2020

Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Defective insulin secretion and enhanced insulin action in KATP channel-deficient mice.

1 reference

12 December 2020

Congenital hyperinsulinism

1 reference

12 December 2020

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

1 reference

12 December 2020

Mouse Zac1, a transcriptional coactivator and repressor for nuclear receptors

1 reference

12 December 2020

Allele-specific binding of CTCF to the multipartite imprinting control region KvDMR1

1 reference

12 December 2020

Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics

1 reference

12 December 2020

MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of "neonatal diabetes"?

1 reference

12 December 2020

Membrane phospholipid control of nucleotide sensitivity of KATP channels

1 reference

12 December 2020

Islet-specific antibody seroconversion in patients with long duration of permanent neonatal diabetes caused by mutations in the KCNJ11 gene

1 reference

12 December 2020

Crystal structure of a Kir3.1-prokaryotic Kir channel chimera

1 reference

12 December 2020

Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia.

1 reference

12 December 2020

Birth weight, infant growth and insulin resistance

1 reference

12 December 2020

Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

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.

1 reference

12 December 2020

Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12.

1 reference

12 December 2020

Sulfonylurea receptors set the maximal open probability, ATP sensitivity and plasma membrane density of KATP channels

1 reference

12 December 2020

Alternative splicing of the imprinted candidate tumor suppressor gene ZAC regulates its antiproliferative and DNA binding activities

1 reference

12 December 2020

Identification and characterization of pancreatic eukaryotic initiation factor 2 alpha-subunit kinase, PEK, involved in translational control

1 reference

12 December 2020

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta

1 reference

12 December 2020

Insulin-promoter-factor 1 is required for pancreas development in mice

1 reference

12 December 2020

Insulin promoter factor-1 gene mutation linked to early-onset type 2 diabetes mellitus directs expression of a dominant negative isoprotein

1 reference

12 December 2020

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers

1 reference

12 December 2020

Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM

1 reference

12 December 2020

Sulfonylurea receptors: ABC transporters that regulate ATP-sensitive K(+) channels

1 reference

12 December 2020

Genetics and pathophysiology of hyperinsulinism in infancy.

1 reference

12 December 2020

Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor

1 reference

12 December 2020

Permanent diabetes mellitus in the first year of life

1 reference

12 December 2020

Activating Mutations in the KCNJ11 Gene Encoding the ATP-Sensitive K+ Channel Subunit Kir6.2 Are Rare in Clinically Defined Type 1 Diabetes Diagnosed Before 2 Years

1 reference

12 December 2020

Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation

1 reference

12 December 2020

Long-term course of neonatal diabetes.

1 reference

12 December 2020

Refinement of the 6q chromosomal region implicated in transient neonatal diabetes

1 reference

12 December 2020

Identifiers

DOI

10.1210/ER.2007-0029

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18436707%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18436707%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference