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KCNJ11

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https://www.readbyqxmd.com/read/28439221/congenital-hyperinsulinism-caused-by-a-de-novo-mutation-in-the-abcc8-gene-a-case-report
#1
Zsuzsanna Molnár, Lfdia Balogh, János Kappelmayer, László Madar, Éva Gombos, István Balogh
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss. Here we report a case of a term male infant presented with severe hyperinsulinaemic hypoglycaemia. Gene panel testing was performed to give rapid genetic diagnosis...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28387875/polymorphism-e23k-rs5219-in-the-kcnj11-gene-in-euro-brazilian-subjects-with-type-1-and-2-diabetes
#2
S W Souza, L P Alcazar, P A Arakaki, I C R Santos-Weiss, D Alberton, G Picheth, F G M Rego
Insulin secretion is regulated by ATP-sensitive potassium channels (KATP). The potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene, located on chromosome 11p15.1, encodes the subunit Kir6.2 that forms the pore region of KATP channels in pancreatic β-cells. Among the single nucleotide polymorphisms (SNPs) associated with KCNJ11, the E23K polymorphism (rs5219) promotes a substitution (G > A) of a glutamic acid residue for lysine at position 23. The E23K SNP has been associated with diabetes in several populations, although with controversial results...
April 5, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28352326/genetic-variants-in-kcnj11-tcf7l2-and-hnf4a-are-associated-with-type-2-diabetes-bmi-and-dyslipidemia-in-families-of-northeastern-mexico-a-pilot-study
#3
Hugo Leonid Gallardo-Blanco, Jesus Zacarías Villarreal-Perez, Ricardo Martin Cerda-Flores, Andres Figueroa, Celia Nohemi Sanchez-Dominguez, Juana Mercedes Gutierrez-Valverde, Iris Carmen Torres-Muñoz, Fernando Javier Lavalle-Gonzalez, Esther Carlota Gallegos-Cabriales, Laura Elia Martinez-Garza
The aim of the present study was to investigate whether genetic markers considered risk factors for metabolic syndromes, including dyslipidemia, obesity and type 2 diabetes mellitus (T2DM), can be applied to a Northeastern Mexican population. A total of 37 families were analyzed for 63 single nucleotide polymorphisms (SNPs), and the age, body mass index (BMI), glucose tolerance values and blood lipid levels, including those of cholesterol, low-density lipoprotein (LDL), very LDL (VLDL), high-density lipoprotein (HDL) and triglycerides were evaluated...
February 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28350539/personalized-precision-medicine-in-extreme-preterm-infants-with-transient-neonatal-diabetes-mellitus
#4
Ranjit I Kylat, Rajan Senguttuvan, Mohammed Y Bader
Although hyperglycemia is common in neonates, especially preterm infants, a diagnosis of neonatal diabetes mellitus (NDM) is rarely made. NDM can be permanent (45%), transient (45%) or syndromic (10%). Of the 95% of identifiable mutations for NDM, methylation defects in 6q24, KCNJ11, ABCC8, and INS account for the majority. Two cases of transient NDM in extremely preterm, 24 weeks' gestational age (GA) triplets, due to a missense mutation c.685G>A in the KCNJ11 gene are presented. Both patients were successfully transitioned from insulin to Glyburide (Glibenclamide) at 2 months of age...
March 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28348047/genome-wide-association-study-meta-analysis-of-long-term-average-blood-pressure-in-east-asians
#5
Changwei Li, Yun Kyoung Kim, Rajkumar Dorajoo, Huaixing Li, I-Te Lee, Ching-Yu Cheng, Meian He, Wayne H-H Sheu, Xiuqing Guo, Santhi K Ganesh, Jiang He, Juyoung Lee, Jianjun Liu, Yao Hu, Dabeeru C Rao, Fuu-Jen Tsai, Jia Yu Koh, Hua Hu, Kae-Woei Liang, Walter Palmas, James E Hixson, Sohee Han, Yik-Ying Teo, Yiqin Wang, Jing Chen, Chieh Hsiang Lu, Yingfeng Zheng, Lixuan Gui, Wen-Jane Lee, Jie Yao, Dongfeng Gu, Bok-Ghee Han, Xueling Sim, Liang Sun, Jinying Zhao, Chien-Hsiun Chen, Neelam Kumari, Yunfeng He, Kent D Taylor, Leslie J Raffel, Sanghoon Moon, Jerome I Rotter, Yii-der Ida Chen, Tangchun Wu, Tien Yin Wong, Jer-Yuarn Wu, Xu Lin, E-Shyong Tai, Bong-Jo Kim, Tanika N Kelly
BACKGROUND: Genome-wide single marker and gene-based meta-analyses of long-term average (LTA) blood pressure (BP) phenotypes may reveal novel findings for BP. METHODS AND RESULTS: We conducted genome-wide analysis among 18 422 East Asian participants (stage 1) followed by replication study of ≤46 629 participants of European ancestry (stage 2). Significant single-nucleotide polymorphisms and genes were determined by a P<5.0×10(-8) and 2.5×10(-)(6), respectively, in joint analyses of stage-1 and stage-2 data...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28347637/transient-neonatal-diabetes-mellitus-and-activating-mutation-in-the-kcnj11-gene-in-two-siblings
#6
T Kamoun, I Chabchoub, S Ben Ameur, S Kmiha, H Aloulou, H Cave, M Polak, M Hachicha
Transient neonatal diabetes mellitus is a rare disease usually associated with chromosome 6 abnormalities. Mutations of the genes encoding the potassium channel are rarely associated with these transitional forms. Herein, we report the clinical features of two siblings with a heterozygous mutation C679 G>A in the KCNJ11 gene.
May 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28330327/role-of-gnb3-net-kcnj11-tcf7l2-and-grl-genes-single-nucleotide-polymorphism-in-the-risk-prediction-of-type-2-diabetes-mellitus
#7
REVIEW
Saliha Rizvi, Syed Tasleem Raza, Qamar Rahman, Farzana Mahdi
Type 2 diabetes (T2DM) is a polygenic metabolic disorder characterized by hyperglycemia occurring as a result of impaired insulin secretion or insulin resistance. Various environmental and genetic factors interact and increase the risk of T2DM and its complications. Among the various genetic factors associated with T2DM, single nucleotide polymorphism in different candidate genes have been studied intensively and the resulting genetic variants have been found to have either positive or negative association with T2DM thereby increasing or decreasing the risk of T2DM, respectively...
December 2016: 3 Biotech
https://www.readbyqxmd.com/read/28323911/monogenic-diabetes-accounts-for-6-3-of-cases-referred-to-15-italian-pediatric-diabetes-centers-during-2007-2012
#8
Maurizio Delvecchio, Enza Mozzillo, Giuseppina Salzano, Dario Iafusco, Giulio Frontino, Patrizia I Patera, Ivana Rabbone, Valentino Cherubini, Valeria Grasso, Nadia Tinto, Sabrina Giglio, Giovanna Contreas, Rosa Di Paola, Alessandro Salina, Vittoria Cauvin, Stefano Tumini, Giuseppe d'Annunzio, Lorenzo Iughetti, Vilma Mantovani, Giulio Maltoni, Sonia Toni, Marco Marigliano, Fabrizio Barbetti
Context: Etiologic diagnosis of diabetes may impact on therapeutic strategy, and prognosis of chronic complications. Objective: The aim of the study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers, and the influence of etiologic diagnosis on therapy. Design, Setting and Patients: This was a retrospective study. Clinical records of 3781 consecutive patients (age: 0-18 years) referred to fifteen pediatric diabetes clinics and diagnosed with diabetes or IFG between Jan/1/2007 and Dec/31/2012 were examined...
February 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28270372/congenital-hyperinsulinism-in-china-a-review-of-chinese-literature-over-the-past-15-years
#9
Wang Weiyan, Sun Yi, Zhao Wenting, Wu Tai, Wang Liang, Yuan Tianming, Yu Huimin
OBJECTIVE: The present study is investigated the clinical presentation, therapeutic outcomes and genetic mutations of CHI in Chinese individuals over the past 15 years. METHODS: The authors retrospectively reviewed one case in the department and 206 cases reported from January 2002 to October 2016 in China from PubMed, Ovid Medline, Springer and Wanfang Database, CBMD database and CKNI database. RESULTS: In total, 207 cases were recruited: 100 cases (48...
March 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28252621/-association-of-the-polymorphic-marker-glu23lys-in-the-kcnj11-gene-with-hypertension-in-kyrgyz-patients
#10
Zh T Isakova, E T Talaibekova, D A Asambaeva, A S Kerimkulova, O S Lunegova, A A Aldashev
AIM: To study the association of the polymorphic marker Glu23Lys in the KCNJ11 with the development of hypertension in Kyrgyz patients. SUBJECTS AND METHODS: This case-control study enrolled 214 unrelated ethnic Kyrgyzes, in which a study group included 152 hypertensive patients (82 men and 70 women) and a control group consisted of 109 apparently healthy individuals (61 men and 48 women). The examinees' mean age was 55.2±10.1 years. Hypertension was verified when blood pressure (BP) was above 140/90 mm Hg...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28209764/kcnj11-ablation-is-associated-with-increased-nitro-oxidative-stress-during-ischemia-reperfusion-injury-implications-for-human-ischemic-cardiomyopathy
#11
Bo Zhang, Tatiana Novitskaya, Debra G Wheeler, Zhaobin Xu, Elena Chepurko, Ryan Huttinger, Heng He, Saradhadevi Varadharaj, Jay L Zweier, Yanna Song, Meng Xu, Frank E Harrell, Yan Ru Su, Tarek Absi, Mark J Kohr, Mark T Ziolo, Dan M Roden, Christian M Shaffer, Cristi L Galindo, Quinn S Wells, Richard J Gumina
BACKGROUND: Despite increased secondary cardiovascular events in patients with ischemic cardiomyopathy (ICM), the expression of innate cardiac protective molecules in the hearts of patients with ICM is incompletely characterized. Therefore, we used a nonbiased RNAseq approach to determine whether differences in cardiac protective molecules occur with ICM. METHODS AND RESULTS: RNAseq analysis of human control and ICM left ventricular samples demonstrated a significant decrease in KCNJ11 expression with ICM...
February 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28190775/drp1-suppresses-leptin-and-glucose-sensing-of-pomc-neurons
#12
Anna Santoro, Michela Campolo, Chen Liu, Hiromi Sesaki, Rosaria Meli, Zhong-Wu Liu, Jung Dae Kim, Sabrina Diano
Hypothalamic pro-opiomelanocortin (POMC) neurons regulate energy and glucose metabolism. Intracellular mechanisms that enable these neurons to respond to changes in metabolic environment are ill defined. Here we show reduced expression of activated dynamin-related protein (pDRP1), a mitochondrial fission regulator, in POMC neurons of fed mice. These POMC neurons displayed increased mitochondrial size and aspect ratio compared to POMC neurons of fasted animals. Inducible deletion of DRP1 of mature POMC neurons (Drp1(fl/fl)-POMC-cre:ER(T2)) resulted in improved leptin sensitivity and glucose responsiveness...
March 7, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28173619/hyperglycaemia-related-complications-at-the-time-of-diagnosis-can-cause-permanent-neurological-disability-in-children-with-neonatal-diabetes
#13
J O Day, S E Flanagan, M H Shepherd, A W Patrick, N Abid, L Torrens, A J Zeman, K A Patel, A T Hattersley
BACKGROUND: Children with neonatal diabetes often present with diabetic ketoacidosis and hence are at risk of cerebral oedema and subsequent long-term neurological deficits. These complications are difficult to identify because neurological features can also occur as a result of the specific genetic aetiology causing neonatal diabetes. CASE REPORTS: We report two cases of neonatal diabetes where ketoacidosis-related cerebral oedema was the major cause of their permanent neurological disability...
February 7, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28123437/a-case-series-congenital-hyperinsulinism
#14
Mohammad Reza Alaei, Susan Akbaroghli, Mohammad Keramatipour, Ali Alaei
INTRODUCTION: Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease...
October 2016: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28073131/evaluation-of-glutathione-peroxidase-and-kcnj11-gene-polymorphisms-in-patients-with-new-onset-diabetes-mellitus-after-renal-transplantation
#15
Gulsah Y Yalin, Sebahat Akgul, Seher Tanrikulu, Sevim Purisa, Nurdan Gul, Ayse K Uzum, Fatma O Sarvan, Mehmet S Sever, Ilhan Satman
Introduction Genetic mutations such as C599T polymorphism in glutathione peroxidase [GPX1] gene and polymorphisms in potassium channel (KCNJ11) genes have recently been proposed in the etiopathogenesis of new onset diabetes mellitus after renal transplantation (NODAT). We aimed to examine the association of GPX1 and KCNJ11 polymorphisms in NODAT. Materials and Methods This is a monocenter case-control study with a total of 118 renal transplant recipients who were divided into 2 groups; NODAT and normal glucose tolerance...
January 10, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28018462/a-novel-mutation-of-abcc8-gene-in-a-patient-with-diazoxide-unresponsive-congenital-hyperinsulinism
#16
Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park
Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of the ABCC8 or KCNJ11 genes, which encode the sulfonylurea receptor 1 and the inward rectifying potassium channel (Kir6.2) subunit of the ATP-sensitive potassium channel, respectively...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27921429/-congenital-hyperinsulinism-loss-of-b-cell-self-control
#17
Jan Lebl, Klára Roženková, Štěpánka Průhová
Congenital hyperinsulinism is a serious blood glucose regulation defect that interferes with brain development, leading to mental retardation, neurological sequelae and secondary epilepsy and ultimately may be life-threatening. Congenital hyperinsulinism (CHI) is caused by genetic defects of regulation of insulin secretion that induce insulin oversecretion in intrauterine life and postnatally. The clinical consequence is fetal macrosomia and subsequently neonatal and infantile hypoglycaemia. The most severe form is caused by biallelic mutations of KCNJ11 and ABCC8 genes that encode both potassium channel subunits, whereas their heterozygous mutations as well as enzymatic defects (GLUD1, HADH, GCK) lead to milder presentation...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27908292/conservatively-treated-congenital-hyperinsulinism-chi-due-to-k-atp-channel-gene-mutations-reducing-severity-over-time
#18
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
#19
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...
January 15, 2017: 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
#20
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
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