• Disease
  • Insulin
  • Insulin Receptor
  • Louis J Elsas

    Prominent publications by LOUIS J ELSAS

    KOL Index score: 12449

    1. Puromycin dihydrochloride inhibited uptake of α-aminoisobutyric acid (AIB), 1-aminocyclopentane-1-carboxylic acid, and α,γ-diaminobutyric acid by intact diaphragm muscle from male rats weighing 60 to 90 g when the antibiotic was added to the system in vitro 120 and 180 min before the addition of the substrate. 2. In the absence of insulin, this inhibitory response was also produced by cycloheximide, but not by the aminonucleoside of puromycin or actinomycin D. In the presence of ...

    Also Ranks for: Insulin Stimulation |  amino acid |  protein synthesis |  vitro techniques |  puromycin dihydrochloride
    KOL Index score: 12313

    PURPOSE: Cerebrovascular complications of sickle cell disease (SCD) are common, but the risk factors remain unclear. The multicenter Stroke Prevention Trial in Sickle Cell Anemia (STOP) provided an opportunity to examine alpha thalassemia-2 as a modifying risk factor, using abnormal transcranial Doppler ultrasonography (TCD) as a surrogate marker for cerebrovascular disease. The authors hypothesized that children with abnormal TCD are less likely to have alpha thalassemia-2, and an ...

    Also Ranks for: Sickle Cell Anemia |  alpha thalassemia |  normal tcd |  doppler ultrasonography |  children scd
    KOL Index score: 11733

    While folate supplementation reduces the risk of recurrent neural-tube defects (NTD), both folate and cobalamin deficiencies may be independent risk-factors for neural-tube defects. Folate-dependence and impaired remethylation of homocysteine are implicated as mechanisms for NTD. There are few references reported for folate, cobalamin, homocysteine and methionine in the fetal compartment. This case-controlled pilot study of amniotic fluid (AF) samples derived from 16 NTD pregnancies and ...

    Also Ranks for: Amniotic Fluid |  tube defects |  vitamin b12 |  homocysteine methionine |  folate ntd
    KOL Index score: 10610

    OBJECTIVE: To evaluate the effectiveness of an education intervention in a summer camp setting on knowledge, attitudes, and health beliefs regarding metabolic control of phenylketonuria and dietary compliance.

    DESIGN: An observational study of a weeklong metabolic camp for adolescent girls with phenylketonuria (PKU) who were followed up over the course of 1 year. Observations also were made in 3 subsequent years of camp.

    INTERVENTION: The camp experience consisted of diet and disease ...

    Also Ranks for: Phenylalanine Levels |  camp intervention |  dietary compliance |  phenylketonuria pku |  health knowledge
    KOL Index score: 10353

    The insulin receptor is a ligand-activated tyrosine kinase composed of two alpha and two beta subunits. A single transmembrane domain composed of 23 hydrophobic residues is contained in each beta subunit. We examined the role of the transmembrane domain in regulating insulin receptor signaling by inserting a negatively charged amino acid (Asp) for Val938 (V938D). Chinese hamster ovary (CHO) cells were stably transfected with a plasmid containing both the neomycin-resistance gene and ...

    Also Ranks for: Insulin Receptor |  transmembrane domain |  beta subunit |  amino acid |  glucose transport
    KOL Index score: 9772

    To better understand the pathophysiology of galactose-1-phosphate uridyltransferase (GALT) deficiency in humans, we studied the mechanisms by which a GALT-deficient yeast survived on galactose medium. Under normal conditions, GALT-deficient yeast cannot grow in medium that contains 0.2% galactose as the sole carbohydrate, a phenotype of Gal(-). We isolated revertants from a GALT-deficient yeast by direct selection for growth in galactose, a phenotype of Gal(+). Comparison of gene ...

    Also Ranks for: Glucose Pyrophosphorylase |  galactose medium |  phosphate uridyltransferase |  human udp |  galt deficiency
    KOL Index score: 9766

    Naturally occurring mutations in the insulin receptor gene cause heritable severe insulin resistance. These mutations usually impair insulin receptor signaling in cells cultured from affected individuals. However, fibroblasts cultured from a patient with intrauterine growth restriction and severe insulin resistance (leprechaun Atl-1) had normal amounts of insulin receptor protein and defective insulin binding but constitutive activation of insulin-receptor autophosphorylation and kinase ...

    Also Ranks for: Glucose Transport |  insulin receptor |  natural mutation |  kinase activity |  fibroblasts patient
    KOL Index score: 9505

    1. The transport of α-amino[1-C14]isobutyric acid by intact rat diaphragm was studied in vitro over a 60-min course of incubation, after a 180-min prior incubation period. Insulin stimulated α-aminoisobutyric acid accumulation by muscle from 10-, 25-, 37-, 50-, and 100-day-old animals by 41, 147, 109, 54, and 23%, respectively. 2. Insulin stimulated uptake by increasing the maximum velocity of active transport (V max) in muscle from 10-day-old animals. In contrast, insulin increased the ...

    Also Ranks for: Insulin Stimulation |  acid uptake |  transport muscle |  day animals |  α aminoisobutyric
    KOL Index score: 9485

    Renal glucose titration studies were carried out in 10 members of two pedigrees with familial renal glycosuria to test the accepted hypothesis of autosomal dominant inheritance and to investigate the genetic significance of "type A" and "type B" renal glycosuria. In one family, a brother and sister each had a moderately reduced threshold and tubular maximum for glucose (type A), but both of their parents reabsorbed glucose normally. In the second family, two brothers had severe type A ...

    Also Ranks for: Renal Glycosuria |  hexose transport |  glucose kidney |  intestinal mucosa |  severe type
    KOL Index score: 9319

    The human cDNA and gene for galactose-1-phosphate uridyl transferase (GALT) have been cloned and sequenced. A prevalent mutation (Q188R) is known to cause classic galactosemia (G/G). G/G galactosemia has an incidence of 1/38,886 in 1,396,766 Georgia live-born infants, but a more common variant of galactosemia, Duarte, has an unknown incidence. The proposed Duarte biochemical phenotypes of GALT are as follows: D/N, D/D, and D/G, which have approximately 75%, 50%, and 25% of normal GALT ...

    Also Ranks for: Duarte Galactosemia |  common mutation |  galt gene |  n314d alleles |  biochemical phenotype
    KOL Index score: 9156

    Leprechaunism is an autosomal recessive syndrome of severe insulin resistance and is characterized by intrauterine growth restriction, acanthosis nigricans, hirsutism, and loss of glucose homeostasis. Here we report a new female patient of Hispanic and Afro-American descent whose fibroblasts and lymphoblasts had markedly impaired insulin binding (less than 10% of that in controls). Insulin binding to lymphoblasts established from both unrelated parents was partially impaired. ...

    Also Ranks for: Nonsense Mutation |  insulin resistance |  receptor gene |  patients fibroblasts |  reduced mrna


    LOUIS J ELSAS: Influence Statistics

    Sample of concepts for which LOUIS J ELSAS is among the top experts in the world.
    Concept World rank
    partial differing degrees #1
    phy deficiency smaller #1
    duarte hgalt #1
    involvement humeral muscles #1
    galt released #1
    udpglucose content #1
    cycloheximide 55 μm #1
    udpgalactose 100 protein #1
    350 kilodaltons #1
    lh cell lines #1
    acute iva #1
    parameters 7 µm #1
    s135l #1
    transport proteins lproline #1
    q188r homozygous cells #1
    topic lipoamide administration #1
    delgtca #1
    complex decarboxylation #1
    reaction galactose1 #1
    phy deficiency #1
    patient n370s #1
    amino acid hgalt #1
    gene udpglucose pyrophosphorylase #1
    eegmpf #1
    gale galactitol galactokinase #1
    1 38886 #1
    protein galt #1
    butyloxycarbonyln epsilon #1
    transition 1721ct #1
    expired air genotype #1
    biological stability galt #1
    promoter region chore #1
    tpp mg2 #1
    unusual contractures #1
    kiv kmv decarboxylase #1
    mild hyperinsulinism #1
    diet thiamine #1
    275000dalton unit #1
    biochemical sscp #1
    galactosemia human #1
    increased hgalt #1
    2744g nucleotide #1
    acid galt #1
    leprechaunism cells #1
    mutation s135l #1
    biostability human lymphoblasts #1
    dyspraxia patients #1
    muscular dystorphy #1
    hgalt duarte #1

    Key People For Insulin Receptor

    Top KOLs in the world
    Carl Ronald RONALD KAHN
    insulin receptor adipose tissue skeletal muscle
    Morris F White
    insulin receptor tyrosine phosphorylation skeletal muscle
    Axel A Ullrich
    insulin receptor growth factor protein kinase
    Jerrold M Olefsky
    insulin resistance glucose transport adipose tissue
    Richard A Roth
    insulin receptor protein kinase monoclonal antibody
    Masato Kasuga
    insulin receptor diabetes mellitus tyrosine phosphorylation

    LOUIS J ELSAS:Expert Impact

    Concepts for whichLOUIS J ELSAShas direct influence:Insulin receptor,  Insulin receptor gene,  Insulin binding,  Thiamine pyrophosphate,  Renal glycosuria,  Isovaleric acidemia,  Human fibroblasts,  Gaucher disease.

    LOUIS J ELSAS:KOL impact

    Concepts related to the work of other authors for whichfor which LOUIS J ELSAS has influence:Mitochondrial dna,  Hereditary optic,  Classic galactosemia,  Newborn screening,  Insulin receptor,  Sickle cell disease,  Amino acids.



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    University of Miami, Coral Gables, FL, USA | Department of Biochemistry and Molecular Biology, Pediatrics, University of Miami Miller School of Medicine, Miami, FL 33136, USA | Departments of Pediatrics and Biochemistry, University of Miami Miller Sc