Neonatal Diabetes: An Expanding List of Genes Allows for Improved Diagnosis and Treatment

Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies

(2016) Sven Pörksen et al.   BMC Endocrine Disorders

Phenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene

(2011) Maciej Borowiec et al.   ACTA DIABETOLOGICA

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

(2011) Cathryn J. Poulton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

(2011) Nanna D. Rendtorff et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

In Vivo Misfolding of Proinsulin Below the Threshold of Frank Diabetes

(2011) I. Hodish et al.   DIABETES

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3

(2011) O. Rubio-Cabezas et al.   DIABETES

Diabetes and Neurodegeneration in Wolfram Syndrome: A multicenter study of phenotype and genotype

(2011) J. Rohayem et al.   DIABETES CARE

The Cost-Effectiveness of Personalized Genetic Medicine: The case of genetic testing in neonatal diabetes

(2011) S. A. W. Greeley et al.   DIABETES CARE

Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes

(2011) E. L. Edghill et al.   DIABETIC MEDICINE

Permanent diabetes during the first year of life: multiple gene screening in 54 patients

(2011) L. Russo et al.   DIABETOLOGIA

Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals

(2011) Klemens Raile et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Neonatal Diabetes and Congenital Malabsorptive Diarrhea Attributable to a Novel Mutation in the Human Neurogenin-3 Gene Coding Sequence

(2011) Sara E. Pinney et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Thiamine-Responsive Megaloblastic Anemia Syndrome With Atrial Standstill

(2011) Zehra Aycan et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations

(2011) Lucie Gonsorcikova et al.   PEDIATRIC DIABETES

Transient neonatal diabetes mellitus type 1

(2010) Deborah J.G. Mackay et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Further evidence that mutations in INScan be a rare cause of Maturity-Onset Diabetes of the Young (MODY)

(2010) Trine W Boesgaard et al.   BMC Medical Genetics

Wolfram syndrome and WFS1 gene

(2010) L Rigoli et al.   CLINICAL GENETICS

PERK (EIF2AK3) Regulates Proinsulin Trafficking and Quality Control in the Secretory Pathway

(2010) Sounak Gupta et al.   DIABETES

Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities

(2010) O. Rubio-Cabezas et al.   DIABETES

Paternally Inherited Proinsulin Mutations May Result in Earlier Onset of Monogenic Diabetes Mutation Identity Effect in Monogenic Diabetes

(2010) W. Fendler et al.   DIABETES CARE

Novel GLIS3 mutations demonstrate an extended multisystem phenotype

(2010) P Dimitri et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

(2010) Sonya G. Fonseca et al.   JOURNAL OF CLINICAL INVESTIGATION

Rfx6 directs islet formation and insulin production in mice and humans

(2010) Stuart B. Smith et al.   NATURE

Four novel cases of permanent neonatal diabetes mellitus caused by homozygous mutations in the glucokinase gene

(2010) Kate Bennett et al.   PEDIATRIC DIABETES

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature*

(2010) M Nuri Ozbek et al.   PEDIATRIC DIABETES

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome

(2010) Amélie Bonnefond et al.   PLoS One

Mutant INS-Gene Induced Diabetes of Youth: Proinsulin Cysteine Residues Impose Dominant-Negative Inhibition on Wild-Type Proinsulin Transport

(2010) Ming Liu et al.   PLoS One

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

(2010) I. Garin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene

(2010) Julie Støy et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

Muscle Dysfunction Caused by a KATP Channel Mutation in Neonatal Diabetes Is Neuronal in Origin

(2010) R. H. Clark et al.   SCIENCE

Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60

(2010) Stefan S. Fajans et al.   Translational Research

Compound heterozygosity for mutations inPAX6in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

(2009) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes

(2009) Sindhu Rajan et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted

(2009) Soo-Young Park et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Secondary Consequences of β Cell Inexcitability: Identification and Prevention in a Murine Model of KATP-Induced Neonatal Diabetes Mellitus

(2009) Maria Sara Remedi et al.   Cell Metabolism

A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency

(2009) M. Nicolino et al.   DIABETES

Insulin Gene Mutations Resulting in Early-Onset Diabetes: Marked Differences in Clinical Presentation, Metabolic Status, and Pathogenic Effect Through Endoplasmic Reticulum Retention

(2009) G. Meur et al.   DIABETES

Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes

(2009) O. Rubio-Cabezas et al.   DIABETIC MEDICINE

Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn

(2009) Dana Martinovici et al.   European Journal of Medical Genetics

A murine model of neonatal diabetes mellitus inGlis3-deficient mice

(2009) Naoki Watanabe et al.   FEBS LETTERS

Misfolded Proinsulin Affects Bystander Proinsulin in Neonatal Diabetes

(2009) Israel Hodish et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families

(2009) Oscar Rubio-Cabezas et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

(2009) Anke K. Bergmann et al.   JOURNAL OF PEDIATRICS

Glis3 Is Associated with Primary Cilia and Wwtr1/TAZ and Implicated in Polycystic Kidney Disease

(2009) H. S. Kang et al.   MOLECULAR AND CELLULAR BIOLOGY

Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation

(2009) Inas H Thomas et al.   PEDIATRIC DIABETES

Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM

(2009) Ali Mohamadi et al.   PEDIATRIC DIABETES

A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis

(2008) Louise Chappell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in theABCC8(SUR1 subunit of the KATPchannel) gene are associated with a variable clinical phenotype

(2008) Tomasz Klupa et al.   CLINICAL ENDOCRINOLOGY

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

(2008) M. Polak et al.   DIABETES

Mutations in the Insulin Gene Can Cause MODY and Autoantibody-Negative Type 1 Diabetes

(2008) A. Molven et al.   DIABETES

Long-Standing Sulfonylurea Therapy After Pubertal Relapse of Neonatal Diabetes in a Case of Uniparental Paternal Isodisomy of Chromosome 6

(2008) U. Schimmel   DIABETES CARE

Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

(2008) O. Rubio-Cabezas et al.   DIABETES CARE

Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies

(2008) R. Bonfanti et al.   DIABETES CARE

Lack of pancreatic body and tail inHNF1Bmutation carriers

(2008) I. S. Haldorsen et al.   DIABETIC MEDICINE

Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3)

(2008) J. H. Wen et al.   DIABETOLOGIA

Permanent Neonatal Diabetes Mellitus Caused by a Novel Homozygous (T168A) Glucokinase (GCK) Mutation: Initial Response to Oral Sulphonylurea Therapy

(2008) Doga Turkkahraman et al.   JOURNAL OF PEDIATRICS

A Novel Mutation in the SLC19A2 Gene in a Turkish Female with Thiamine-responsive Megaloblastic Anemia Syndrome

(2008) E. Yesilkaya et al.   JOURNAL OF TROPICAL PEDIATRICS

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

(2008) Deborah J G Mackay et al.   NATURE GENETICS

Diagnosis and treatment of neonatal diabetes: an United States experience†

(2008) Julie Støy et al.   PEDIATRIC DIABETES