Monogenic models: what have the single gene disorders taught us? - Wikidata - awgldk - TriplyDB

Monogenic models: what have the single gene disorders taught us?

Monogenic models: what have the single gene disorders taught us?

http://www.wikidata.org/entity/Q36369882

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Bridging the gap between genetic associations and molecular mechanisms for type 2 diabetes.The MafA transcription factor becomes essential to islet β-cells soon after birth.Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11).Genetic insights into cardiometabolic risk factors Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.Dysfunctional mitochondrial bioenergetics and oxidative stress in Akita(+/Ins2)-derived β-cells Diabetic pdx1-mutant zebrafish show conserved responses to nutrient overload and anti-glycemic treatment.Complementary Approaches to Existing Target Based Drug Discovery for Identifying Novel Drug Targets.Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome.

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Monogenic models: what have the single gene disorders taught us?

http://www.wikidata.org/entity/Q36369882

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2012 nî lūn-bûn

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Monogenic models: what have the single gene disorders taught us?

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Monogenic models: what have the single gene disorders taught us?

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Monogenic models: what have the single gene disorders taught us?

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Current diabetes report

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Monogenic models: what have the single gene disorders taught us?

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Jan Skupien

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Maciej T Malecki

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Tomasz Klupa

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P2860

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

Five years of GWAS discovery

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel.

Genetic cause of hyperglycaemia and response to treatment in diabetes

Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases

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s11892-012-0325-0

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659-666

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10.1007/S11892-012-0325-0

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6

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12

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230894631

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22996131

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type-1 diabetes

nuclear protein

DNA-binding protein

transport protein

type-2 diabetes

transcription factor

membrane proteins

maturity-onset diabetes of the young

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3488607

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