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KCNJ11

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https://www.readbyqxmd.com/read/27908292/conservatively-treated-congenital-hyperinsulinism-chi-due-to-k-atp-channel-gene-mutations-reducing-severity-over-time
#1
Maria Salomon-Estebanez, Sarah E Flanagan, Sian Ellard, Lindsey Rigby, Louise Bowden, Zainab Mohamed, Jacqueline Nicholson, Mars Skae, Caroline Hall, Ross Craigie, Raja Padidela, Nuala Murphy, Tabitha Randell, Karen E Cosgrove, Mark J Dunne, Indraneel Banerjee
BACKGROUND: Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural history of medically treated K-ATP CHI has not been described; it is unclear if the severity of recessively and dominantly inherited K-ATP CHI reduces over time. We aimed to review variation in severity and outcomes in patients with K-ATP CHI treated by medical therapy. METHODS: Twenty-one consecutively presenting patients with K-ATP CHI with dominantly and recessively inherited mutations in ABCC8/KCNJ11 were selected in a specialised CHI treatment centre to review treatment outcomes...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27889714/neonatal-diabetes-a-case-series
#2
Ramaswamy Ganesh, Natarajan Suresh, Thiruvengadam Vasanthi, K G Ravikumar
BACKGROUND: Neonatal Diabetes Mellitusis a rare disorder with an incidence of 1 in 2,60,000 live births. METHODS: Retrospective analysis of clinical and genetic profile of children admitted with neonatal diabetes mellitus in a tertiary care hospital in Chennai, India over 11 years. RESULTS: Ten children were diagnosed with neonatal diabetes of whom 9 had permanent neonatal diabetes mellitus. The age range at onset was from 3 days- 5 months...
November 5, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27849623/successful-transition-to-sulfonylurea-therapy-in-two-iraqi-siblings-with-neonatal-diabetes-mellitus-and-idend-syndrome-due-to-abcc8-mutation
#3
Elif Ozsu, Dinesh Giri, Gulcan Seymen Karabulut, Senthil Senniappan
Neonatal diabetes is a rare form of monogenic diabetes characterised by persistent hyperglycaemia during the first 6-9 months of age. About half of the cases of neonatal diabetes are transient forms resulting from mutations in the genes in the imprinted region of chromosome 6q24 and the other half are permanent forms. Activating mutations in the potassium ATP (KATP) channels encoded by the genes KCNJ11 and ABCC8 are responsible for the majority of permanent neonatal diabetes mellitus (PNDM). Mutations in KATP channels can be associated with Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27809389/epidemiology-clinical-characteristics-and-genetic-etiology-of-neonatal-diabetes-in-japan
#4
Kazuaki Nagashima, Daisuke Tanaka, Nobuya Inagaki
Neonatal diabetes mellitus (NDM) is a rare but potentially devastating metabolic disorder, with reported incidence of one per 300,000-500,000 births generally, and hyperglycemia develops within the first 6 months of life (1-4). NDM is classified into two categories clinically. One is transient NDM (TNDM), in which insulin secretion is spontaneously recovered by several months of age, but sometimes recurs later, and the other is permanent NDM (PNDM), requiring lifelong medication. Recent molecular analysis of NDM identified at least 12 genetic abnormalities: chromosome 6q24, KCNJ11, ABCC8, INS, FOXP3, GCK, IPF1, PTF1A, EIF2AK3, GLUT2, HNF1β, and GLIS3 (5-22)...
November 3, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27802092/case-report-preservation-of-reduced-numbers-of-insulin-positive-cells-in-sulfonylurea-unresponsive-kcnj11-related-diabetes
#5
Siri Atma W Greeley, Mark C Zielinski, Ananta Poudel, Honggang Ye, Shivani Berry, Jerome B Taxy, David Carmody, Donald F Steiner, Louis H Philipson, Jamie R Wood, Manami Hara
CONTEXT: The most common genetic cause of permanent neonatal diabetes mellitus is activating mutations in KCNJ11, which can usually be treated using oral sulfonylureas (SU) instead of insulin injections, although some mutations are SU unresponsive. Here, we provide the first report of the pancreatic islet endocrine cell composition and area in a patient with an SU-unresponsive KCNJ11 mutation (p.G334D), in comparison to age-matched controls. CASE DESCRIPTION: Pancreatic autopsy tissue sections from a 2-year female child diagnosed with KCNJ11-related diabetes at 4 days of age and 13 age-matched controls were stained with insulin, glucagon, somatostatin, pancreatic polypeptide and Ki67 antibodies to determine islet endocrine cell composition and area...
November 1, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27771675/hyperinsulinemic-hypoglycemia-of-infancy-due-to-novel-hadh-mutation-in-two-siblings
#6
Amit Kumar Satapathy, Vandana Jain, Sian Ellard, Sarah E Flanagan
BACKGROUND: Hyperinsulinemia is the commonest cause of persistent hypoglycemia in infancy. Inactivating mutations in the genes ABCC8 and KCNJ11 are the commonest cause. Mutation in the HADH gene, which encodes the short-chain-L-3-hydroxyacyl-CoA dehydrogenase, is a rare cause. CASE CHARACTERISTICS: Two Indian sisters who presented with hyperinsulinemic hypoglycemia of infancy. OBSERVATION/INTERVENTION: A novel homozygous missense mutation in the HADH gene was identified in both the sisters, while the parents were found to be heterozygous carriers...
October 8, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27706648/allele-and-parent-of-origin-specific-effects-on-expression-of-the-kcnj11-gene-a-candidate-for-meat-tenderness-in-cattle
#7
M M de Souza, S C M Niciura, P C Tizioto, A M G Ibelli, G Gasparin, M I P Rocha, F A Bressani, W Malagó-Jr, W J S Diniz, P S N de Oliveira, A O Lima, M A Mudadu, W Barioni Junior, L L Coutinho, L C A Regitano
In contrast to the Mendelian inheritance model, parental alleles can contribute unequally to gene expression, which may result in phenotypic variance among individuals and bias in the predicted additive effect of molecular markers associated with production traits. Given the need to understand the effects of allelic variation and parent-of-origin effects on the expression of genes with a commercial interest in cattle, we analyzed the expression of KCNJ11 (potassium inwardly rectifying channel, subfamily J, member 11), which was previously described as a functional candidate gene for meat tenderness...
August 29, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27681997/molecular-and-clinical-features-of-katp-channel-neonatal-diabetes-mellitus-in-japan
#8
Yukiko Hashimoto, Sumito Dateki, Masakazu Hirose, Kenichi Satomura, Hirotake Sawada, Haruo Mizuno, Shigetaka Sugihara, Koichi Maruyama, Tatsuhiko Urakami, Hidenori Sugawara, Kenji Shirai, Tohru Yorifuji
BACKGROUND: There are few reports pertaining to Asian patients with neonatal diabetes mellitus (NDM) caused by activating mutations in the ATP-sensitive potassium channel genes (KATP-NDM). OBJECTIVES: To elucidate the characteristics of Japanese patients with KATP-NDM. METHODS: By the amplification and direct sequencing of all exons and exon-intron boundaries of the KCNJ11 and ABCC8 genes, 25 patients with KATP-NDM were identified from a total of 70 patients with NDM...
September 29, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27573238/pharmacological-correction-of-trafficking-defects-in-atp-sensitive-potassium-channels-caused-by-sulfonylurea-receptor-1-mutations
#9
Gregory M Martin, Emily A Rex, Prasanna Devaraneni, Jerod S Denton, Kara E Boodhansingh, Diva D DeLeon, Charles A Stanley, Show-Ling Shyng
ATP-sensitive potassium (KATP) channels play a key role in mediating glucose-stimulated insulin secretion by coupling metabolic signals to β-cell membrane potential. Loss of KATP channel function due to mutations in ABCC8 or KCNJ11, genes encoding the sulfonylurea receptor 1 (SUR1) or the inwardly rectifying potassium channel Kir6.2, respectively, results in congenital hyperinsulinism. Many SUR1 mutations prevent trafficking of channel proteins from the endoplasmic reticulum to the cell surface. Channel inhibitors, including sulfonylureas and carbamazepine, have been shown to correct channel trafficking defects...
October 14, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27562702/in%C3%A2-vitro-effect-of-nicorandil-on-the-carbachol-induced-contraction-of-the-lower-esophageal-sphincter-of-the-rat
#10
Tomonori Shimbo, Takeshi Adachi, Susumu Fujisawa, Mai Hongoh, Takayoshi Ohba, Kyoichi Ono
The lower esophageal sphincter (LES) is a specialized region of the esophageal smooth muscle that allows the passage of a swallowed bolus into the stomach. Nitric oxide (NO) plays a major role in LES relaxation. Nicorandil possesses dual properties of a NO donor and an ATP-sensitive potassium channel (KATP channel) agonist, and is expected to reduce LES tone. This study investigated the mechanisms underlying the effects of nicorandil on the LES. Rat LES tissues were placed in an organ bath, and activities were recorded using an isometric force transducer...
August 2016: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/27555491/adhd-learning-difficulties-and-sleep-disturbances-associated-with-kcnj11-related-neonatal-diabetes
#11
Karen A Landmeier, Monica Lanning, David Carmody, Siri Atma W Greeley, Michael E Msall
OBJECTIVES: Mutations in KCNJ11 are the most common cause of permanent neonatal diabetes mellitus (NDM). Approximately 25% of patients have obvious neurological dysfunction, but whether milder related problems might be more common has been unclear. We sought to assess the prevalence of parental concerns about learning, behavior, attention deficit hyperactivity disorder (ADHD), social competency, and sleep in subjects with KCNJ11-related NDM compared to unaffected sibling controls. STUDY DESIGN: Subjects or their guardians in the University of Chicago Monogenic Diabetes Registry completed a survey examining learning, behavior, ADHD and sleep...
August 24, 2016: Pediatric Diabetes
https://www.readbyqxmd.com/read/27540106/prematurity-and-genetic-testing-for-neonatal-diabetes
#12
Rachel E J Besser, Sarah E Flanagan, Deborah G J Mackay, I K Temple, Maggie H Shepherd, Beverley M Shields, Sian Ellard, Andrew T Hattersley
BACKGROUND: Hyperglycemia in premature infants is usually thought to reflect inadequate pancreatic development rather than monogenic neonatal diabetes. No studies, to our knowledge, have investigated the prevalence of monogenic forms of diabetes in preterm infants. METHODS: We studied 750 patients with diabetes diagnosed before 6 months of age. We compared the genetic etiology and clinical characteristics of 146 preterm patients born <37 weeks and compared them with 604 born ≥37 weeks...
September 2016: Pediatrics
https://www.readbyqxmd.com/read/27524441/an-isogenic-human-esc-platform-for-functional-evaluation-of-genome-wide-association-study-identified-diabetes-genes-and-drug-discovery
#13
Hui Zeng, Min Guo, Ting Zhou, Lei Tan, Chi Nok Chong, Tuo Zhang, Xue Dong, Jenny Zhaoying Xiang, Albert S Yu, Lixia Yue, Qibin Qi, Todd Evans, Johannes Graumann, Shuibing Chen
Genome-wide association studies (GWASs) have increased our knowledge of loci associated with a range of human diseases. However, applying such findings to elucidate pathophysiology and promote drug discovery remains challenging. Here, we created isogenic human ESCs (hESCs) with mutations in GWAS-identified susceptibility genes for type 2 diabetes. In pancreatic beta-like cells differentiated from these lines, we found that mutations in CDKAL1, KCNQ1, and KCNJ11 led to impaired glucose secretion in vitro and in vivo, coinciding with defective glucose homeostasis...
September 1, 2016: Cell Stem Cell
https://www.readbyqxmd.com/read/27477181/analysis-of-cell-free-fetal-dna-for-non-invasive-prenatal-diagnosis-in-a-family-with-neonatal-diabetes
#14
E De Franco, R Caswell, J A L Houghton, V Iotova, A T Hattersley, S Ellard
AIMS: An early genetic diagnosis of neonatal diabetes guides clinical management and results in improved treatment in ~ 40% of patients. In the offspring of individuals with neonatal diabetes, a prenatal diagnosis allows accurate estimation of the risk of developing diabetes and, eventually, the most appropriate treatment for the baby. In this study, we performed non-invasive prenatal genetic testing for a fetus at risk of inheriting a paternal KCNJ11 p.R201C mutation causing permanent neonatal diabetes...
June 29, 2016: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/27455602/-assessment-of-efficiency-of-the-personalized-therapy-of-patients-with-obesity-and-diabetes-mellitus-2-types-appointed-on-the-basis-of-studying-rs5219-polymorphism-of-kcnj11-gene
#15
I A Lapik, K M Gapparova, Kh Kh Sharafetdinov, E Yu Sorokina, T B Sentsova, O A Plotnikova, Yu G Chekhonina
The aim of the study was to develop and evaluate the effectiveness of personalized therapy forpatients with diabetes mellitus type 2 (DM) and obesity based on the study of rs5219 polymorphism of KCNJ11gene. The study involved 120 women with DM and obesity I-II degree. Genotyping was performed in patients using allele-specific amplification with the detection in real time. Depending on the genotype of KCNJ11 gene patients with DM and obesity received different treatment and were divided into 2 groups (40 patients in each): group A (C/T genotype) received standard low-calorie diet + metformin 2000 mg/day and group B (T/T genotype) received a personalized diet + vitamin-mineral complex (VMC) + metformin 2000 mg/day...
2016: Voprosy Pitaniia
https://www.readbyqxmd.com/read/27428845/a-girl-with-permanent-neonatal-diabetes-due-to-kcnj11-mutation-presented-with-mauriac-syndrome-after-improper-adjustment-in-sulfonylurea-dosage-over-6-years
#16
Rapeepun Chai-Udom, Taninee Sahakitrungruang, Suttipong Wacharasindhu, Vichit Supornsilchai
Mauriac syndrome is characterized by growth impairment, Cushingoid features, and hepatomegaly in patients with poorly controlled type 1 diabetes mellitus (T1DM). We report a novel presentation of Mauriac syndrome in a 9-year-old girl who was diagnosed with neonatal diabetes at 3 months of age due to the p.R201C mutation in KCNJ11. She was initially treated successfully with glipizide at a dose of 0.85 mg/kg/day but after being lost to follow-up and having improper adjustment in dose over many years, the recent dose of 0...
September 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27398945/identification-of-monogenic-gene-mutations-in-japanese-subjects-diagnosed-with-type-1b-diabetes-between-5-and-15-1-years-of-age
#17
Maki Moritani, Ichiro Yokota, Reiko Horikawa, Tatsuhiko Urakami, Aki Nishii, Tomoyuki Kawamura, Nobuyuki Kikuchi, Touru Kikuchi, Tsutomu Ogata, Shigetaka Sugihara, Shin Amemiya
BACKGROUND: Monogenic mutations, such as those in the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) and insulin (INS) genes, are identified in young patients with type 1B diabetes (non-autoimmune-mediated). We recently reported the results of a test for monogenic forms of diabetes in Japanese children who were diagnosed with type 1B diabetes at <5 years of age. In this study, we tested for monogenic forms of diabetes in Japanese children aged >5 to ≤15...
September 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27347941/computational-analysis-of-single-nucleotide-polymorphisms-associated-with-altered-drug-responsiveness-in-type-2-diabetes
#18
Valerio Costa, Antonio Federico, Carla Pollastro, Carmela Ziviello, Simona Cataldi, Pietro Formisano, Alfredo Ciccodicola
Type 2 diabetes (T2D) is one of the most frequent mortality causes in western countries, with rapidly increasing prevalence. Anti-diabetic drugs are the first therapeutic approach, although many patients develop drug resistance. Most drug responsiveness variability can be explained by genetic causes. Inter-individual variability is principally due to single nucleotide polymorphisms, and differential drug responsiveness has been correlated to alteration in genes involved in drug metabolism (CYP2C9) or insulin signaling (IRS1, ABCC8, KCNJ11 and PPARG)...
2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27329029/clinical-and-genetic-features-of-argentinian-children-with-diabetes-onset-before-12months-of-age-successful-transfer-from-insulin-to-oral-sulfonylurea
#19
Patricia Taberner, Sarah E Flanagan, Deborah J Mackay, Sian Ellard, Mariano J Taverna, Mabel Ferraro
AIMS: Neonatal diabetes mellitus (NDM) is a rare monogenic disorder, reported to affect less than 2 cases per 100,000 infants. There are two types, permanent (PNDM) and transient (TNDM). We describe our clinical experience in determining and comparing the genetic basis of diabetes in children with onset before 6months versus those diagnosed between 6 and 12months of age. METHODS: We reviewed medical records of children with diabetes diagnosed before 12months of age...
July 2016: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/27253191/association-of-type-2-diabetes-susceptibility-loci-with-peripheral-nerve-function-in-a-chinese-population-with-diabetes
#20
Jingyi Lu, Yi Luo, Jie Wang, Cheng Hu, Rong Zhang, Congrong Wang, Weiping Jia
AIMS/INTRODUCTION: Previous studies suggested possible relationship between Type 2 diabetes mellitus (T2DM) susceptibility loci and diabetic complications. This study aimed to investigate the associations between T2DM loci with peripheral nerve function in a Chinese population with T2DM. MATERIALS AND METHODS: A total of 1,900 T2DM patients were recruited in the study. We selected ten single nucleotide polymorphisms (SNPs) from ten T2DM susceptibility genes previously confirmed in Chinese...
June 2, 2016: Journal of Diabetes Investigation
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