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KCNJ11

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https://www.readbyqxmd.com/read/28508606/surgery-in-focal-congenital-hyperinsulinism-chi-the-hyperinsulinism-germany-international-experience-in-30-children
#1
Winfried Barthlen, Emine Varol, Susann Empting, Ilse Wieland, Martin Zenker, Wolfgang Mohnike, Silke Vogelgesang, Klaus Mohnike
OBJECTIVES: Results of surgery for focal CHI in 30 children PATIENTS AND METHODS: All showed an ABCC8 or KCNJ11 mutation. After PET/CT in 29 children and PET/MRT in 1 case, frozen-section guided resection was performed, in left-sided cases by laparoscopy. Mean age at surgery was 11.7 months (2-49). RESULTS: In 28/30 children, the PET/CT or MRT correlated with histopathology. In two cases, a focal lesion was undectable; one of these was cured, one not. In total, 24 children showed lesions with sizes of 5-12 mm...
December 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28480665/dend-syndrome-with-heterozygous-kcnj11-mutation-successfully-treated-with-sulfonylurea
#2
Ja Hyang Cho, Eungu Kang, Beom Hee Lee, Gu Hwan Kim, Jin Ho Choi, Han Wook Yoo
Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (KATP channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin to sulfonylurea therapy. A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia...
June 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28477417/neuropsychological-impairments-in-children-with-kcnj11-neonatal-diabetes
#3
P Bowman, A T Hattersley, B A Knight, E Broadbridge, L Pettit, M Reville, S E Flanagan, M H Shepherd, T J Ford, J Tonks
We support the findings of Carmody et al. [1], who offered new insights into the neurological phenotype of people with KCNJ11 neonatal diabetes. Neurological features result from the KATP channel affected by these mutations being expressed in the brain as well as the pancreas [2]. Previous work has characterized developmental delay associated with specific mutations, for example, V59M, known as developmental delay, epilepsy and neonatal diabetes (DEND) syndrome [3,4]. Affected individuals also have impaired visuo-motor performance [5] and psychiatric (predominantly neurodevelopmental) disorders [6]...
May 6, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28464250/regulation-of-histone-acetylation-on-expression-profiles-of-potassium-channels-during-cardiomyocyte-differentiation-from-mouse-embryonic-stem-cells
#4
Duo Wang, Chang Liu, Zhigang Li, Yumei Wang, Wenjing Wang, Xiujuan Wu, Kang Wang, Wei Miao, Li Li, Luying Peng
The cardiomyocyte differentiation from mouse embryonic stem cells (mESCs) is a dynamic and complex process that involved in the precision regulation of histone acetylation. The formation of action potential (AP) in mature cardiomyocytes is based on the expression pattern of Na(+) , Ca(2+) and K(+) ion channels, in which the slow delayed rectifier potassium current (IKs ), the rapid delayed rectifier potassium current (IKr ) and the inwardly rectifying Kir current (IK1 ) mainly contribute to repolarization for AP in different species...
May 2, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28460053/utilizing-the-kcnj11-gene-mutations-in-spotting-egyptian-patients-with-permanent-neonatal-diabetes-who-can-benefit-from-treatment-shift
#5
Dina M Ahmed, Soha M Abdel Dayem, Mona Abdel Kader, Rania H Khalifa, Dalia H El-Lebedy, Solaf A Kamel, Shereen M Shawky
Background: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes mellitus. Until now, patients in developing countries who had this condition had been misdiagnosed as having type 1 diabetes mellitus and accordingly directed to erroneous, ineffective, and costly therapeutic regimens. Objective: To detect Egyptian patients who harbor pathological variant in the KCNJ11 gene, so that their treatment regimen can be modified as needed to increase its effectiveness...
April 27, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/28458900/congenital-hyperinsulinism-and-poland-syndrome-in-association-with-10p13-14-duplication
#6
Dinesh Giri, Prashant Patil, Rachel Hart, Mohammed Didi, Senthil Senniappan
SUMMARY: Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks' gestation with birth weight of 3.33 kg (-0.55 SDS) had typical phenotypical features of PS. She had recurrent hypoglycaemic episodes early in life requiring high concentration of glucose and glucagon infusion...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28449408/prediabetes-is-associated-with%C3%A2-genetic-variations-in-the-kir6-2-subunit%C3%A2-kcnj11-%C3%A2-of-pancreatic-atp-sensitive-potassium-channel-gene-a-case-control-study-in-youth-han-chinese-population
#7
Min Xu, Honglin Hu, Datong Deng, Mingwei Chen, Zhenshan Xu, Youmin Wang
BACKGROUND: E23K variant of the KCNJ11 has been reported to be associated with type 2 diabetes in multiple populations. However, little is known about the role of E23K polymorphism of the KCNJ11 in the development of prediabetes in youth in China. METHODS: To this end, we recruited 279 subjects with prediabetes and 240 normal controls. RESULTS: We found that prediabetic Chinese youth exhibited higher carrier rate of K23-allele-containing genotypes than control subjects (p = 0...
April 27, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/28439221/congenital-hyperinsulinism-caused-by-a-de-novo-mutation-in-the-abcc8-gene-a-case-report
#8
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
#9
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
#10
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
#11
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
#12
MULTICENTER STUDY
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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