Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene. - Wikidata - awgldk - TriplyDB

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

http://www.wikidata.org/entity/Q34284056

about

Neurofunctional imaging of β-cell dynamics New opportunities: harnessing induced pluripotency for discovery in diabetes and metabolism INS-gene mutations: from genetics and beta cell biology to clinical disease Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment The delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiology Current progress of genetically engineered pig models for biomedical research Insight into the Structural and Biological Relevance of the T/R Transition of the N-Terminus of the B-Chain in Human Insulin Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.β-Cell failure in type 2 diabetes.Transgenic zebrafish model of the C43G human insulin gene mutation Different types of secondary information in the genetic code.Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.IRE1 inhibition perturbs the unfolded protein response in a pancreatic β-cell line expressing mutant proinsulin, but does not sensitize the cells to apoptosis.Proinsulin misfolding and endoplasmic reticulum stress during the development and progression of diabetes.Searching for "monogenic diabetes" in dogs using a candidate gene approach Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.Permanent neonatal diabetes due to a novel insulin signal peptide mutation.Genetic complexity in a Drosophila model of diabetes-associated misfolded human proinsulin.tRNA gene copy number variation in humans.Arginine vasopressin neuronal loss results from autophagy-associated cell death in a mouse model for familial neurohypophysial diabetes insipidus.Diabetes mellitus and the β cell: the last ten years.Intracellular and extracellular adenosine triphosphate in regulation of insulin secretion from pancreatic β cells (β).Insulin gene mutations and diabetes Monogenic diabetes: Implementation of translational genomic research towards precision medicine.Genetic Factors of Diabetes.Dysfunctional mitochondrial bioenergetics and oxidative stress in Akita(+/Ins2)-derived β-cells Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism.Endoplasmic reticulum stress and eIF2α phosphorylation: The Achilles heel of pancreatic β cells.Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation Identification of INS and KCNJ11 gene mutations in type 1B diabetes in Japanese children with onset of diabetes before 5 years of age.Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.Understanding childhood diabetes mellitus: new pathophysiological aspects.Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India.Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry.Identification of insulin gene variants in neonatal diabetes.Early insulin therapy prevents beta cell loss in a mouse model for permanent neonatal diabetes (Munich Ins2 C95S)

P2860

Q26829645-C21DBEB2-32B5-4D0A-9BF5-22BA3C5E4FAC Q26995562-876E1D44-68A4-4D67-BC96-E44D99428AA9 Q27013618-EA9935F3-4C58-4CC4-A731-1A00ADB42FAF Q27013756-D2D91678-468D-47FC-8A3D-6BDEE4BDBFA2 Q27015793-E64C7970-0866-493C-9EFE-41ED43A4A952 Q27027327-028B91FD-0572-4124-9508-7DB12D412C6E Q27683744-3887267D-BCF5-46F9-A5D2-70BAE43729DE Q28545160-C5B7775F-6F7C-455A-8F4E-D0E16BB72A87 Q30411328-B42D216F-1595-4C62-BCF5-4EA68C0FD388 Q33588325-42F3DA51-770F-4DF1-BE16-CCDBB4CB84DE Q33603397-B5A8CE46-9867-4B10-A70B-D9411648DF37 Q33968000-239D388F-0BEB-442F-85A2-637739E14ADF Q34123591-B4EA07BD-8674-4859-BE9E-2630AA7197F5 Q35204732-3F1D87A3-491C-4698-AEB4-3DC25AD9806A Q35498877-47C96EF9-123F-48B8-80CF-09802CD3E3C2 Q36084435-BA28FA72-7F3C-4BCD-826A-AE985C1A0961 Q36553475-C1579C4B-9AAF-4A77-BC07-A8CFBA380D86 Q36960085-39841723-05CE-4057-B1E2-167521A145BB Q37016243-D67EBA84-7970-4AE6-8F03-421546C52A5C Q37557480-84786BD7-134D-45CF-A183-F64FE2A5DDBB Q37614809-C0C35343-0997-4F08-99B9-9463F376A462 Q37680208-3A480744-680D-4E89-A889-E9A9092E0608 Q37994282-56F43C04-9C8A-4BF0-B4CF-8A2AE2DB595A Q38153423-C329B8D6-B3AE-4F40-92D2-4157FAEF0677 Q38213044-F71822AA-C046-4A15-868B-30DE5AECB076 Q38844084-9616E9BB-C98F-49C9-B5CD-8265A11DA413 Q39084940-D402A476-2F26-45E1-BF0D-BBBC89094A0E Q39131463-706FB3C4-DAB7-4B74-8EC8-03B0A5D13322 Q39307078-69104852-7854-4032-B8E3-5A1860EDC24B Q41689677-4A17254C-EE5E-4447-BE7A-BBB3F1766C51 Q42838805-1AA1A4A0-9D5C-4A5D-B070-824AF44C1DB8 Q45999247-10725992-DC5F-4746-A43A-BCBA50363E8F Q46936149-1F317043-D941-4918-907F-2E526E5FD7D8 Q48106932-AD560960-CCE4-4A31-84C8-80762520C5D3 Q50186120-88889DF2-76EE-47D7-9C1F-23542863212E Q50913262-698A6B21-5EDA-4FA8-9062-F358FE64BCFE Q51035328-9FA9D610-CF81-4333-BD62-52DCC3D6722F Q51712601-6456FC2B-1B51-4947-BA04-53303D847378 Q57197955-19654DED-D4A5-4C03-A955-B0C631C6DD8C

P2860

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

http://www.wikidata.org/entity/Q34284056

description

2010 nî lūn-bûn

@nan

2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Clinical and molecular genetic ...... mutations in the insulin gene.

@ast

Clinical and molecular genetic ...... mutations in the insulin gene.

@en

Clinical and molecular genetic ...... mutations in the insulin gene.

@nl

type

label

Clinical and molecular genetic ...... mutations in the insulin gene.

@ast

Clinical and molecular genetic ...... mutations in the insulin gene.

@en

Clinical and molecular genetic ...... mutations in the insulin gene.

@nl

prefLabel

Clinical and molecular genetic ...... mutations in the insulin gene.

@ast

Clinical and molecular genetic ...... mutations in the insulin gene.

@en

Clinical and molecular genetic ...... mutations in the insulin gene.

@nl

P1433

Q34284056-0E3AD071-A426-474A-AEEC-8CA90C889A77

P1476

Q34284056-E93176A2-E1CF-498B-89AB-F359F5215F4E

P2093

Q34284056-138F71B2-7BAB-4470-8D15-7D7576400939

Q34284056-1B2DD355-4D91-42C8-A8B2-617402E91481

Q34284056-5C3ACE44-F7F9-4FD4-843B-EFD552B9957F

Q34284056-63EBBD3E-E3ED-4ACB-8A4A-4BC803A07F6A

Q34284056-692B3858-60EC-4789-A64B-5BEC9C07C68A

Q34284056-C360E01C-89D3-4693-98B2-D010D4ACFEE8

P2860

Q34284056-0627FC00-CC26-4BC7-A47B-766EBC701BD6

Q34284056-0DB76808-8EF9-4AFA-AD12-56D37FAA5761

Q34284056-0FAA9CB2-FC53-4587-9329-0471E10E6EA0

Q34284056-124CFA4A-2D7D-49CB-BB48-147AB92CF986

Q34284056-21A1347C-B8CA-47B6-8E0D-FBA4B167F9CF

Q34284056-30B39969-E79C-48D9-A9C4-6B33E3E07C0F

Q34284056-36ECBF95-32B1-471A-A4E6-17347D45C7FB

Q34284056-45F50DC8-FBB3-496D-9665-BD081D7D1805

Q34284056-487C27EC-1A0E-4CE8-AF57-D7383EE61904

Q34284056-5380B81F-33E2-49EC-BF97-F4D7C263CD59

P2888

Q34284056-22D0E3EE-AB7D-457A-8385-7FBABA3BD5F2

P304

Q34284056-3BF63091-53F3-45D3-9D58-0D8291A664E1

P31

Q34284056-BEF7E2C7-22BB-4B73-B383-08D53D38799F

Q34284056-E3C77C76-9B14-4F3A-A2CE-C2F9EE4BEAE3

P356

Q34284056-FA853ADF-B5B3-4C0E-9488-18A5C6547259

P433

Q34284056-8C58CACC-C269-4DCF-9D01-A639042D5FC1

P478

Q34284056-256B5D8C-7882-4251-96BA-89833E72ACF5

P577

Q34284056-52BA1D81-C5AE-404F-8E09-A4119500A7E8

P5875

Q34284056-A90E0FE0-8FA9-4E23-8F1E-F52BF99289AE

P6179

Q34284056-1E18D9A3-A7D6-427A-A4AC-24DBEEFF3774

P698

Q34284056-7A43D7AD-76EA-40A4-8EEA-6593689276AB

P921

Q34284056-0D114D1D-30B3-4CE4-B3AF-43AC44EC15C9

Q34284056-8A2F7C09-2016-4C71-BBDC-29A72A75F579

Q34284056-D24D6801-46FA-47FA-BBCD-E724189D1AF8

Q34284056-E75EBBFE-30D3-4C20-9D3E-689F17BCE927

Q34284056-EE4870AA-9CFB-4885-9837-30C99E90D94B

Q34284056-EFBA2F6C-E763-434D-B6C5-9802AA10772F

P932

Q34284056-8B7C1835-A502-45E2-8156-441996682C3B

P356

S11154-010-9151-3

P1433

Reviews in Endocrine and Metabolic Disorders

P1476

Clinical and molecular genetic ...... mutations in the insulin gene.

@en

P2093

Donald F Steiner

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

Graeme I Bell

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

Honggang Ye

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

Julie Støy

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

Louis H Philipson

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

Soo-Young Park

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

P2860

A structurally abnormal insulin causing human diabetes

Familial hyperproinsulinaemia due to a mutation substituting histidine for arginine at position 65 in proinsulin: identification of the mutation by restriction enzyme mapping

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

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Insulin biosynthesis: evidence for a precursor

Targeted disruption of the Chop gene delays endoplasmic reticulum stress-mediated diabetes

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

Misfolded proinsulin affects bystander proinsulin in neonatal diabetes

A mutant human proinsulin is secreted from islets of Langerhans in increased amounts via an unregulated pathway

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.

P2888

s11154-010-9151-3

P304

205-215

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

P31

scholarly article

P356

10.1007/S11154-010-9151-3

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

P433

3

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

P478

11

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

P577

2010-09-01T00:00:00Z

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

P5875

47396496

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

P6179

1009624389

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

P698

20938745

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

P921

type-1 diabetes

perinatal disease

genetic variation

P932

2974937

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