Homozygous deletion of the human insulin receptor gene results in leprechaunism
about
Regulation of Long Bone Growth in Vertebrates; It Is Time to Catch UpSequencing analysis of insulin receptor defects and detection of two novel mutations in INSR geneSyndromes associated with insulin resistance and acanthosis nigricans.Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistanceAn insulin-like signaling pathway affects both longevity and reproduction in Caenorhabditis elegans.Molecular insights into insulin action and secretion.Genetic disorders of human growth.Insulin exerts direct, IGF-1 independent actions in growth plate chondrocytes.Targeted disruption of the insulin receptor gene in the mouse results in neonatal lethalityNovel roles for insulin receptor (IR) in adipocytes and skeletal muscle cells via new and unexpected substrates.Association between polymorphisms in genes related to common adult diseases and fetal growth.The role of insulin receptor signaling in zebrafish embryogenesisImpaired activation of phosphoinositide 3-kinase by insulin in fibroblasts from patients with severe insulin resistance and pseudoacromegaly. A disorder characterized by selective postreceptor insulin resistance.Two novel mutations identified in familial cases with Donohue syndromeMouse models and type 2 diabetes: translational opportunities.Metabolic regulation of cellular plasticity in the pancreas.Maternal obesity affects gene expression and cellular development in fetal brains.Developmental changes in the feeding-induced activation of the insulin-signaling pathway in neonatal pigs.Hormonal regulation of male reproductive tract development.Association of the INS VNTR with size at birth. ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood.Paternal allele of IGF2 gene haplotype CTG is associated with fetal and placental growth in Japanese.Different physiological roles of insulin receptors in mediating nutrient metabolism in zebrafish.One novel 2.43Kb deletion and one single nucleotide mutation of the INSR gene in a Chinese neonate with Rabson-Mendenhall syndrome.Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature.Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations
P2860
Q28083996-1D732B38-8577-497E-9563-738469BFEB04Q29393863-28BB05E1-512A-4526-8685-12FA65EB69EAQ33599464-FB7830A8-7A48-49C7-816C-265725BFB435Q33675000-D0DD3A40-C231-45CE-A3B3-65B7C370DF6DQ34602710-54101365-CC28-4AE3-817D-69F803DA93D9Q34655565-FE3A0636-5636-46AE-89B7-82D526B8B01FQ34716062-70C1CB0B-5C40-42A6-B04D-9CE4FA1CBDA9Q35755152-AB175EC6-574F-4A11-A359-D61FD02F05C6Q35846814-E83E3E6B-03A7-48AD-AF2B-0BA760E5E8C7Q36565904-6C3250C7-445C-413C-94D0-C9983E64761EQ36912226-F24DC8AC-11FC-488B-9AC6-0352260B5DE5Q37034940-2472E94A-54C9-4863-9B13-07E87AF40411Q37378857-467BADE6-465C-43B0-80EC-FFE0F8A26698Q37535785-0A78E5E0-B782-40DD-AD27-8CAE1482CD47Q37895535-F07A491B-2489-475A-A02F-AEA88485DD0CQ42139399-02DCC4DB-E782-47DD-8B84-836485C399E8Q43649380-9925704A-3DE6-4CB9-BA20-B13D2BD7AF91Q43762925-CF4C40A4-DC9B-49B8-92E4-F8F5DDA66AF8Q46935133-652178C4-C9A8-4247-A8B1-677AFB7A4296Q47289282-AFAB6299-F765-42B2-8670-73A105353E71Q47951370-35E12D68-867E-468B-A701-01BF3808C5C1Q49917603-B466DACD-AEC8-454D-A9E8-3088D2523265Q50224234-3F62CC7E-1BAE-4DC7-B845-B05ED93AE982Q52563288-84B955BC-464C-485B-A863-02145B505598Q58035793-E6CAEFED-A656-44BB-909F-B3E4C1B927E0
P2860
Homozygous deletion of the human insulin receptor gene results in leprechaunism
description
1993 nî lūn-bûn
@nan
1993 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@ast
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@en
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@en-gb
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@nl
type
label
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@ast
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@en
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@en-gb
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@nl
prefLabel
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@ast
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@en
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@en-gb
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@nl
P2093
P921
P356
P1433
P1476
Homozygous deletion of the human insulin receptor gene results in leprechaunism
@en
P2093
E Wertheimer
M L Davenport
P F Backeljauw
S I Taylor
P2888
P356
10.1038/NG0993-71
P407
P577
1993-09-01T00:00:00Z
P6179
1019870439