A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. - Wikidata - awgldk - TriplyDB

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

http://www.wikidata.org/entity/Q27863920

about

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.Infantile onset diabetes mellitus in developing countries - India KATP channels and cardiovascular disease: suddenly a syndrome Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults.Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene Impact of disease-causing SUR1 mutations on the KATP channel subunit interface probed with a rhodamine protection assay.Neonatal Diabetes: Case Report of a 9-Week-Old Presenting Diabetic Ketoacidosis Due to an Activating ABCC8 Gene Mutation.Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies.Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.Human K(ATP) channelopathies: diseases of metabolic homeostasis.Neonatal diabetes mellitus: a model for personalized medicine The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes N-terminal transmembrane domain of SUR1 controls gating of Kir6.2 by modulating channel sensitivity to PIP2 A Kir6.2 pore mutation causes inactivation of ATP-sensitive potassium channels by disrupting PIP2-dependent gating.Mechanism of KATP hyperactivity and sulfonylurea tolerance due to a diabetogenic mutation in L0 helix of sulfonylurea receptor 1 (ABCC8)Incidental medical information in whole-exome sequencing.Permanent neonatal diabetes mellitus: same mutation, different glycemic control with sulfonylurea therapy on long-term follow-up.Engineered interaction between SUR1 and Kir6.2 that enhances ATP sensitivity in KATP channels.Decreases in Gap Junction Coupling Recovers Ca2+ and Insulin Secretion in Neonatal Diabetes Mellitus, Dependent on Beta Cell Heterogeneity and Noise Defining the genetic aetiology of monogenic diabetes can improve treatment.The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment.Metabolic causes of epileptic encephalopathy Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.Genetics of type 2 diabetes mellitus and obesity--a review.K(ATP) channel pharmacogenomics: from bench to bedside.Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region.Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.Review. SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator.Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.Molecular biology of K(ATP) channels and implications for health and disease.Cryo-EM structure of the ATP-sensitive potassium channel illuminates mechanisms of assembly and gating.Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.Management of diabetes mellitus in infants.The role of pharmacogenetics in drug disposition and response of oral glucose-lowering drugs.Neonatal diabetes caused by activating mutations in the sulphonylurea receptor

P2860

Q24302959-1D248935-64C6-44C0-97F6-321F984F5E20 Q26750262-38BD8736-29D3-46B3-B2A5-532A0D64525F Q27013265-49BA7CE6-EB1C-4754-BDA1-50C0836AD121 Q27865195-71E52136-438E-4178-AEA7-FC98331941BC Q27865212-F37871AE-9202-40A2-B706-0FCA7B93A0D6 Q28469173-CF063DAC-FB44-4582-AA47-9DE7BCEF86DE Q33661454-B175BD0C-D1BD-40D2-AB41-D6A00A61217B Q33693263-2E34EACA-452D-432C-80E0-35D7B6E6C73F Q33700991-49CD97A4-E63E-4690-9ACE-0243E1593C08 Q33733949-0533FCDE-9097-4D7B-9631-DD600C2CC44B Q33906965-2EF13372-4A57-4C40-8C09-3779B5BD8790 Q34037120-2E801D1D-2117-4CD9-9807-98301C9B8465 Q34316689-592B832E-EA80-4867-9566-DC565C6B2683 Q34618893-030BC156-5907-46F3-82E6-234BDAD86E64 Q34735191-66B6F257-57E2-45A5-9433-0EAA9E6D9A3A Q35549132-6A242C6B-065F-4449-99D6-FCD5A19FA6AE Q35996752-A43E9285-DC01-48D3-A099-CC68EA4493AA Q36068119-1035FEAC-12D7-4746-891B-B6D5E780C465 Q36130308-74AB055A-89E2-4F5E-9F80-ACF0FCEDF74F Q36146862-2FC2C18D-03D8-4A4A-9E17-17ADFBB850D3 Q36573898-73CEBA7A-A58A-4BB6-8BF2-31C20EE794A7 Q36634562-96C8A9B9-101A-4DAF-B827-BBD711BFF78A Q36691238-9684F343-1BC9-4E7D-8F4B-1DAD055F3919 Q36879949-3F66FC3C-BE0D-4351-88AE-860F02C382F1 Q36908032-FEE80A1F-6FA7-49A4-AB41-6C172F17CE57 Q36960085-A15166B7-B686-42A7-A5DC-6B7A7B5975F3 Q36977820-18A00C1D-6FE9-4D25-B63B-D4C23C9C2635 Q36980284-13C135A0-ACD2-48E2-8954-0AED7549924E Q37004529-5F558D08-187A-4CF9-BCBD-9187FCD2302D Q37259401-FAEF4675-41EA-4CE5-817B-A97B15A432A4 Q37319861-15BB6003-4CBF-4ACF-981C-33ED5C00DE0F Q37409971-32BF95B2-A13E-488E-9148-16E85366A971 Q37417478-0E802158-C485-4E8F-8A9D-B5D628C4F568 Q37605024-107936DE-F244-47EB-8EE3-EBA2DA08EFAD Q37691747-F363D712-93E7-488D-95E2-53A7A5B4B490 Q37714502-2D7AD1A3-51BD-4548-80D3-640CA02FB642 Q37807453-8E058783-4B5E-4AEA-9966-8315F393AFDF Q37962351-7E2DD9AA-165B-4C80-A20A-3BBF137A7279 Q38110432-BE32D30E-EDE2-462F-A6F3-86E055FACDA1 Q38117598-5B0ABA0E-E1EE-4B25-AFBA-F9C9216931CB

P2860

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

http://www.wikidata.org/entity/Q27863920

description

2006 nî lūn-bûn

@nan

2006 թուականի Յունիսին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի հունիսին հրատարակված գիտական հոդված

@hy

2006年の論文

@ja

2006年論文

@yue

2006年論文

@zh-hant

2006年論文

@zh-hk

2006年論文

@zh-mo

2006年論文

@zh-tw

2006年论文

@wuu

name

A heterozygous activating muta ...... CC8) causes neonatal diabetes.

@ast

A heterozygous activating muta ...... CC8) causes neonatal diabetes.

@en

A heterozygous activating muta ...... CC8) causes neonatal diabetes.

@nl

type

label

A heterozygous activating muta ...... CC8) causes neonatal diabetes.

@ast

A heterozygous activating muta ...... CC8) causes neonatal diabetes.

@en

A heterozygous activating muta ...... CC8) causes neonatal diabetes.

@nl

altLabel

A heterozygous activating muta ...... BCC8) causes neonatal diabetes

@en

prefLabel

A heterozygous activating muta ...... CC8) causes neonatal diabetes.

@ast

A heterozygous activating muta ...... CC8) causes neonatal diabetes.

@en

A heterozygous activating muta ...... CC8) causes neonatal diabetes.

@nl

P1433

Q27863920-6B389052-300E-4C1F-8807-8E1E18E56C6E

P1476

Q27863920-EA09345A-46CA-4384-B02A-8C022824048C

P2093

Q27863920-08EAE4FD-5251-4305-AA05-7E4EFF1F30E8

Q27863920-155ABA29-3E6B-441A-8D8A-60B0621B6C13

Q27863920-8853F38B-4ABA-42F1-831B-AF1C71A12FD5

Q27863920-CEA9DCD9-136B-433D-BE8F-187547A2C2A1

Q27863920-D2AFBC8B-92BD-4DF4-9E99-F58038733349

Q27863920-D2FBC05B-6B9B-4AC2-97BB-2C3B42803115

Q27863920-FABC0237-D27F-4593-AD19-F6762FC1FFA6

P2860

Q27863920-097E8EAB-761D-4CCE-B9E8-01F293BB258B

Q27863920-0DFA5C4D-9BF8-46F0-B8B0-C7CCE4AA8A17

Q27863920-187021EC-72AC-4254-AC59-959FD3A0CF2C

Q27863920-1EC06F59-A0AB-4EE8-9831-38A77C727D93

Q27863920-20FD20AC-FB96-4B84-A747-B58F365F0B61

Q27863920-2B73538E-F06F-4E02-A034-C2DBB791A75D

Q27863920-388E5A4D-1952-4D58-B037-3B67A391B88A

Q27863920-3A7E173C-44FC-4329-84A7-C6312E1E897A

Q27863920-3CCBE40C-779C-43B1-9149-049022D9AC11

Q27863920-3DFF6E03-FAAB-4D72-B1F3-301C90C4989B

P304

Q27863920-9ACD9032-36B2-4728-B1A6-CF8BA8E22195

P31

Q27863920-4E6C64C0-B45A-4EF0-ADC2-D38214A7CE16

P3181

Q27863920-46961A95-9A4A-4D31-B625-BC71A66FB714

P356

Q27863920-88CDD2BC-DFE5-4951-B506-0536F6746582

P407

Q27863920-4CA6F67A-5876-46CC-A17C-5E46C034970F

P433

Q27863920-5E9EF534-7FC2-4EDE-A193-4FA1BF18A119

P478

Q27863920-9C437B39-19A3-4E0A-9B23-DBC3D27F5D24

P50

Q27863920-08B51A80-573A-4961-80F6-464CF553E606

Q27863920-9BA57D00-244E-4BC3-9BA8-47318BF90F7D

Q27863920-E011A142-31D7-4489-9318-8474DAA0C855

P577

Q27863920-22E0B43A-BB5A-4050-B3B8-5277C5D627D8

P5875

Q27863920-9BB21079-5165-47F0-9849-8D414F0F7CEC

P698

Q27863920-F2C042FB-0244-4BF0-BC60-E1695F63B470

P3181

P356

P1433

Human Molecular Genetics

P1476

A heterozygous activating muta ...... CC8) causes neonatal diabetes.

@en

P2093

Amanda L Arnold

http://www.w3.org/2001/XMLSchema#string

Brian Larkin

http://www.w3.org/2001/XMLSchema#string

Christophe Girard

http://www.w3.org/2001/XMLSchema#string

Frances M Ashcroft

http://www.w3.org/2001/XMLSchema#string

Jan Bruining

http://www.w3.org/2001/XMLSchema#string

Kevin Colclough

http://www.w3.org/2001/XMLSchema#string

Peter Proks

http://www.w3.org/2001/XMLSchema#string

P2860

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

The essential role of the Walker A motifs of SUR1 in K-ATP channel activation by Mg-ADP and diazoxide

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating

Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

Alternative sulfonylurea receptor expression defines metabolic sensitivity of K-ATP channels in dopaminergic midbrain neurons

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions

ATP-sensitive potassium channelopathies: focus on insulin secretion

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

P304

1793-800

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

2088254

http://www.w3.org/2001/XMLSchema#string

P356

10.1093/HMG/DDL101

http://www.w3.org/2001/XMLSchema#string

P407

P433

11

http://www.w3.org/2001/XMLSchema#string

P478

15

http://www.w3.org/2001/XMLSchema#string

P50

Andrew Tym Hattersley

Sarah E Flanagan

P577

2006-06-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

7166156

http://www.w3.org/2001/XMLSchema#string

P698

16613899

http://www.w3.org/2001/XMLSchema#string