keyword
MENU ▼
Read by QxMD icon Read
search

KCNJ11

keyword
https://www.readbyqxmd.com/read/29216354/high-prevalence-of-rare-monogenic-forms-of-obesity-in-obese-guadeloupean-afro-caribbean-children
#1
Lydia Foucan, Laurent Larifla, Emmanuelle Durand, Christine Rambhojan, Christophe Armand, Carl-Thony Michel, Rachel Billy, Véronique Dhennin, Franck De Graeve, Iandry Rabearivelo, Olivier Sand, Jean-Marc Lacorte, Philippe Froguel, Amélie Bonnefond
Context: The population from Guadeloupe Island exhibits high prevalence of obesity. Objective: We aimed to investigate whether rare genetic mutations in genes involved in monogenic obesity (or diabetes) might be causal in this population of Afro-Caribbean ancestry. Design and setting: This was a secondary analysis of a study on obesity conducted in schoolchildren from Guadeloupe in 2013, which aimed to assess the changes in children profiles after a lifestyle intervention program...
December 5, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29205704/hypoglycemia-in-sulfonylurea-treated-kcnj11-neonatal-diabetes-mild-moderate-symptomatic-episodes-occur-infrequently-but-none-involving-unconsciousness-or-seizures
#2
Monica S Lanning, David Carmody, Łukasz Szczerbiński, Lisa R Letourneau, Rochelle N Naylor, Siri Atma W Greeley
BACKGROUND: Neonatal diabetes mellitus (NDM) caused by mutations in KCNJ11 can be successfully treated with high dose oral sulfonylureas; however, little data is available on the risk of hypoglycemia. OBJECTIVE: To determine the frequency, severity, and clinical significance of hypoglycemia in KCNJ11-related NDM. METHODS: Utilizing the University of Chicago Monogenic Diabetes Registry, parents completed an online questionnaire addressing hypoglycemia...
December 5, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/29205356/molecular-and-functional-characterization-of-inwardly-rectifying-k-currents-in-murine-proximal-colon
#3
Xu Huang, Si Hyung Lee, Hongli Lu, Kenton M Sanders, Sang Don Koh
Membrane potentials of gastrointestinal (GI) muscles are important because voltage dependent Ca2+ channels in smooth muscle cells (SMC) provide the Ca2+ that triggers contraction. Regulation of membrane potential is complicated because SMC are electrically coupled to interstitial cells of Cajal (ICC) and PDGFRα+ cells. Activation of conductances in any of these cells affects the excitability of the syncytium. We explored the role of inward rectifier K+ conductances in colonic ICC that might contribute to regulation of membrane potential...
December 3, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/29176012/sirolimus-therapy-for-congenital-hyperinsulinism-in-an-infant-with-a-novel-homozygous-kcnj11-mutation
#4
Sophy Korula, Aaron Chapla, Leena Priyambada, Sarah Mathai, Anna Simon
BACKGROUND: Congenital hyperinsulinism results in refractory hypoglycemia. If a therapy with diazoxide has been unresponsive this has been treated by subtotal pancreatectomy in the past. This therapeutic option poses an increased risk of developing diabetes at a later stage. There have been a few case reports on the use of sirolimus in such situations in the recent past. CASE PRESENTATION: Our patient was started on sirolimus very early, on day 29 of life and at the age of 14 months is doing well on sirolimus therapy...
November 27, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29171469/-risk-of-type-2-diabetes-mellitus-in-the-kyrgyz-population-in-the-presence-of-adipoq-g276t-kcnj11-glu23lys-tcf7l2-ivs3c-t-gene-polymorphisms
#5
Zh T Isakova, E T Talaibekova, D A Asambaeva, A S Kerimkulova, O S Lunegova, N M Aldasheva, A A Aldashev
AIM: To analyze the association of genotype combinations of the polymorphic markers G276T in the ADIPOQ gene, Glu23Lys in the KCNJ11 gene, and IVS3C>T in the TCF7L2 gene with the development of type 2 diabetes mellitus (T2DM) in the Kyrgyz population. SUBJECTS AND METHODS: The investigation enrolled 23 Kyrgyz people, of whom there were 114 patients with T2DM and 109 without T2DM (a control group). T2DM was diagnosed in accordance with the WHO criteria (1999)...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/29151084/formal-neurocognitive-testing-in-60-patients-with-congenital-hyperinsulinism
#6
Anja Ludwig, Simone Enke, Janine Heindorf, Susann Empting, Thomas Meissner, Klaus Mohnike
BACKGROUND: Congenital hyperinsulinism (CHI) is hallmarked by persistent hypoketotic hypoglycemia in infancy. In the majority of all patients, CHI is caused by mutations in the KATP channel genes ABCC8 and KCNJ11, but other genes in the insulin-regulatory pathway have also been described. Repeated episodes of hypoglycemia include an increased risk of seizures and intellectual disability. So far, controlled psychometric studies on cognitive, motor, speech, and social-emotional outcome of CHI patients are missing...
November 17, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29128812/pharmacological-evidence-for-the-involvement-of-adenosine-triphosphate-sensitive-potassium-channels-in-chloroquine-induced-itch-in-mice
#7
Sattar Ostadhadi, Arash Foroutan, Nazgol-Sadat Haddadi, Abbas Norouzi-Javidan, Majid Momeny, Ghazaleh Zarrinrad, Seyed Hamid Ghaffari, Ahmad-Reza Dehpour
BACKGROUND: Chloroquine (CQ) evokes itch in human and scratching behavior in rodents through a histamine-independent pathway. Chloroquine directly excites peripheral sensory neurons which convey itch signals to the central nervous system. It has been revealed that ATP-sensitive potassium channels (KATP channels) are important in regulating neuronal excitability. Thus, we aimed to investigate the involvement of KATP channels in CQ-induced itch which may also reveal a linkage between metabolic state of cells and itch...
June 3, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/29127764/could-a-combination-of-heterozygous-abcc8-and-kcnj11-mutations-cause-congenital-hyperinsulinism
#8
Klara Rozenkova, Azizun Nessa, Barbora Obermannova, Lenka Elblova, Petra Dusatkova, Zdenek Sumnik, Jan Lebl, Khalid Hussain, Stepanka Pruhova
BACKGROUND: Congenital hyperinsulinism (CHI) is frequently caused by mutations in one of the KATP channel subunits encoded by the genes ABCC8 and KCNJ11. The effect of simultaneous mutations in both of these genes on the pancreatic β-cell function is not known and patients with CHI carrying both ABCC8 and KCNJ11 mutations have not yet been reported. We questioned if a combination of heterozygous mutations in the ABCC8 and KCNJ11 genes could also lead to β-cell dysfunction presenting as CHI...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29108994/nf%C3%AE%C2%BAb-mediated-elevation-of-kcnj11-promotes-tumor-progression-of-hepatocellular-carcinoma-through-interaction-of-lactate-dehydrogenase-a
#9
Ke Zhang, Ling Mu, Ming-Cui Ding, Rui Xu, Zhao-Jun Ding, Jun Liang
It has been well documented that changes in ion fluxes across cellular membranes is fundamental in maintaining cellular homeostasis. Dysregulation and/or malfunction of ion channels are critical events in the pathogenesis of diverse diseases, including cancers. In this study, we focused on the study of K(+) channels in hepatocellular carcinoma (HCC). By data mining TCGA cohort, the expression of 27 K(+) channels was investigated and KCNJ11 was identified as a key dysregulated K(+) channels in HCC. KCNJ11 was differentially expressed in HCC and predicted a poor prognosis in HCC patients...
November 3, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29058186/methods-for-characterizing-disease-associated-atp-sensitive-potassium-channel-mutations
#10
Balamurugan Kandasamy, Show-Ling Shyng
The ATP-sensitive potassium (KATP) channel formed by the inwardly rectifying potassium channel Kir6.2 and the sulfonylurea receptor 1 (SUR1) plays a key role in regulating insulin secretion. Genetic mutations in KCNJ11 or ABCC8 which encode Kir6.2 and SUR1 respectively are major causes of insulin secretion disorders: those causing loss of channel function lead to congenital hyperinsulinism, whereas those causing gain of channel function result in neonatal diabetes and in some cases developmental delay, epilepsy, and neonatal diabetes, referred to as the DEND syndrome...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29034901/generation-of-a-kcnj11-homozygous-knockout-human-embryonic-stem-cell-line-wae001-a-12-using-crispr-cas9
#11
Fang Yuan, Dongsheng Guo, Ge Gao, Yanli Liu, Yingying Xu, Yuhang Wu, Fan Yang, Xinrong Ke, Keyu Lai, Liangqing Hong, Yin-Xiong Li
The ATP-sensitive potassium channel is an octameric complex, and one of its subunits, namely Kir6.2, is encoded by the KCNJ11 gene. Mutations in KCNJ11 result in hyperinsulinism or diabetes mellitus, associated with abnormal insulin secretion. Here, using CRISPR/Cas9 editing, we established a homozygous mutant KCNJ11 cell line, WAe001-A-12, which was generated by a 62-bp deletion in the coding sequence of the human embryonic stem cell line H1. It was confirmed that this deletion in the KCNJ11 gene did not affect the protein expression levels of key pluripotent factors...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28962121/study-on-the-correlation-between-kcnj11-gene-polymorphism-and-metabolic-syndrome-in-the-elderly
#12
Fan Jiang, Ning Liu, Xiao Zhuang Chen, Kun Yuan Han, Cai Zhong Zhu
The aim of the study was to examine the correlation between KCNJ11 gene polymorphism and metabolic syndrome in elderly patients. From January 2014 to January 2015, 54 elderly patients with metabolic syndrome were enrolled in this study as the observation group. During the same period, 46 healthy elderly individuals were enrolled in this study as the control group. KCNJ11 gene polymorphism (rs28502) was analyzed using polymerase chain reaction-restriction fragment length polymorphism. The expression levels of mRNA in different genotypes were detected using FQ-PCR...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28962116/association-between-potassium-channel-snps-and-essential-hypertension-in-xinjiang-kazak-chinese-patients
#13
Yuan-Yuan Han, Li-Jie Wang, Liang Zhang, Wen-Wen Zhang, Ke-Tao Ma, Li Li, Jun-Qiang Si
The aim of the present study was to examine whether single-nucleotide polymorphisms (SNPs) of β1 subunit of large-conductance Ca(2+)-activated K(+) channel (KCNMB1) and inwardly rectifying K(+) channel, subfamily J, member-11 (KCNJ11) are associated with essential hypertension (EH) in Xinjiang Kazak Chinese patients. A polymerase chain reaction-restriction fragment length polymorphism technique was applied to detect the distribution of selected alleles and genotype frequencies in a cohort of Xinjiang Kazak Chinese patients...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28943514/a-novel-kcnj11-mutation-associated-with-transient-neonatal-diabetes
#14
Evangelia Gole, Stavroula Oikonomou, Sian Ellard, Elisa De Franco, Kyriaki Karavanaki
BACKGROUND: Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes that presents in the first 6 months of life. Activating mutations in the KCNJ11 gene encoding for the Kir6.2 subunit of the KATP channel can lead to transient (TNDM) or permanent neonatal diabetes mellitus (PNDM). CASE REPORT: A female infant presented at the 22nd day of life with severe hyperglycemia and ketoacidosis (glucose: 907mg/dl, blood gas pH: 6.84, HCO3: 6mmol/l). She was initially managed with intravenous (IV) fluids and IV insulin...
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28943513/neonatal-diabetes-two-cases-with-isolated-pancreas-agenensis-due-to-homozygous-ptf1a-enhancer-mutations-and-one-with-dend-syndrome-due-to-kcnj11-mutation
#15
Olcay Evliyaoğlu, Oya Ercan, Emel Ataloğlu, Ümit Zübarioğlu, Bahar Özcabı, Aydilek Dağdeviren, Hande Erdoğan, Elisa De Franco, Sian Ellard
Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first 6 months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the PTF1A enhancer and one with DEND syndrome (developmental delay, epilepsy, and neonatal diabetes) due to a KCNJ11 mutation. The two cases with mutations in the distal enhacer of PTF1A had a homozygous g.23508363A>G and a homozygous g.23508437A>G mutation respectively. Previous functional analysis showed that these mutations can decrease expression of PTF1A which is involved in pancreas development...
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28938416/pancreatic-histopathology-of-human-monogenic-diabetes-due-to-causal-variants-in-kcnj11-hnf1a-gata6-and-lmna
#16
May Sanyoura, Laura Jacobsen, David Carmody, Daniela Del Gaudio, Gorka Alkorta-Aranburu, Kelly Arndt, Ying Ying Hu, Frances Kobiernicki, Irina Kusmartseva, Mark A Atkinson, Louis H Philipson, Desmond Schatz, Martha Campbell-Thompson, Siri Atma W Greeley
Context: Monogenic diabetes is thought to account for 2% of all diabetes cases but most patients are misdiagnosed as type 1 or type 2 diabetes. To date, little is known about the histopathological features of pancreases from patients with monogenic diabetes. Objective: Retrospective study of the JDRF Network for Pancreatic Organ donors with Diabetes biorepository was used to identify possible cases with monogenic diabetes and to compare effects of genetic variants on pancreas histology...
August 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28925365/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-patient-with-maturity-onset-diabetes-of-the-young-type-13-mody13-with-a-the-potassium-inwardly-rectifying-channel-subfamily-j-member-11-kcnj11-mutation
#17
Frank Griscelli, Olivier Feraud, Tony Ernault, Noufissa Oudrihri, Ali G Turhan, Amélie Bonnefond, Philippe Froguel, Annelise Bennaceur-Griscelli
Heterozygous activating mutation (p.Glu227Lys) in KCNJ11 leads to maturity-onset diabetes of the young (MODY) type 13, that is a subtype of dominant inherited young-onset non-autoimmune diabetes due to a primary defect in pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with KCNJ11(p.Glu227Lys) mutation who developed MODY at 13years old. KCNJ11(p.Glu227Lys)-mutated cells that were reprogrammed by non-integrative viral transduction had normal karyotype, harboured the KCNJ11(p...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28855921/diagnosis-and-treatment-of-hyperinsulinaemic-hypoglycaemia-and-its-implications-for-paediatric-endocrinology
#18
REVIEW
Huseyin Demirbilek, Sofia A Rahman, Gonul Gulal Buyukyilmaz, Khalid Hussain
Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5-5.5 mmol/L. Insulin, the only glucose lowering hormone secreted from pancreatic β-cells, plays the key role in glucose homeostasis. Insulin release from pancreatic β-cells is mainly regulated by intracellular ATP-generating metabolic pathways. Hyperinsulinaemic hypoglycaemia (HH), the most common cause of severe and persistent hypoglycaemia in neonates and children, is the inappropriate secretion of insulin which occurs despite low plasma glucose levels leading to severe and persistent hypoketotic hypoglycaemia...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28843469/a-genotype-first-approach-for-clinical-and-genetic-evaluation-of-wolcott-rallison-syndrome-in-a-large-cohort-of-iranian-patients-with-neonatal-diabetes
#19
Farzaneh Abbasi, Maryam Habibi, Samaneh Enayati, Fatemeh Bitarafan, Maryam Razzaghy-Azar, Aria Sotodeh, Sima Parvizi Omran, Reza Maroofian, Mahsa M Amoli
OBJECTIVE: Wolcott-Rallison syndrome (WRS) is an extremely rare autosomal recessive condition, characterized by permanent neonatal diabetes mellitus (PNDM) associated with skeletal dysplasia, growth retardation and liver dysfunction. WRS is caused by biallelic mutations in the gene encoding eukaryotic translation initiation factor 2alpha kinase 3 (EIF2AK3). METHODS: As part of a comprehensive study on clinical and genetic investigation of neonatal diabetes in an Iranian population, 60 unrelated Iranian subjects referred with PNDM were analyzed...
August 23, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28805561/kcnj11-and-kcnq1-gene-polymorphisms-are-not-associated-with-post-transplant-diabetes-mellitus-in-kidney-allograft-recipients-treated-with-tacrolimus
#20
E Dabrowska-Zamojcin, M Tarnowski, M Szydlowski, M Romanowski, V Dziedziejko, K Safranow, L Domanski, A Pawlik
Post-transplant diabetes mellitus (PTDM) is a metabolic disorder occurring after solid organ transplantation during the therapy with calcineurin inhibitors. ATP-sensitive potassium channels KCNJ11 and KCNQ1 play an important role in the regulation of insulin secretion by β cells and development of diabetes mellitus. Numerous studies have confirmed the association between KCNJ11 and KCNQ1 gene polymorphisms and type 2 diabetes. The aim of this study was to examine the association between KCNJ11 and KCNQ1 gene polymorphisms and posttransplant diabetes mellitus in kidney allograft recipients treated with tacrolimus...
2017: Folia Biologica (Praha)
keyword
keyword
115161
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"