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Genomic scan for genes affecting body composition before and after training in Caucasians from HERITAGE
JOURNAL OF APPLIED PHYSIOLOGY
A mutation in the GTPase domain of the large subunit rRNA is involved in the suppression of a-1T frameshift mutation affecting a mitochondrial gene in Chlamydomonas reinhardtii
MOLECULAR GENETICS AND GENOMICS
Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
Evolving responsively: Adaptive mutation
NATURE REVIEWS GENETICS
Different characteristics distinguish early versus late arising adaptive mutations in Escherichia coli FC40
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Effect of endogenous carotenoids on "adaptive" mutation in Escherichia coli FC40
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Mutagenicity of the malondialdehyde oligomerization products 2-(3 '-oxo-1 '-propenyl)-malondialdehyde and 2,4-dihydroxymethylene-3-(2,2-dimethoxyethyl)-glutaraldehyde in Salmonella
MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS
Adaptive mutations, mutator DNA polymerases and genetic change strategies of pathogens
CURRENT OPINION IN MICROBIOLOGY
Association between an agouti-related protein gene polymorphism and anorexia nervosa
MOLECULAR PSYCHIATRY
Frequency and significance of Pro12Ala and Pro115Gln polymorphism in gene for peroxisome proliferation-activated receptor-gamma(2) regarding metabolic parameters in a Caucasian cohort
ENDOCRINE
Comparative whole-genome analyses reveal over 100 putative phase-variable genes in the pathogenic Neisseria spp.
MICROBIOLOGY-SGM
SOS mutator DNA polymerase IV functions in adaptive mutation and not adaptive amplification
MOLECULAR CELL
Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta
HUMAN MUTATION
Hepatocyte nuclear factor-1 beta: A new kindred with renal cysts and diabetes and gene expression in normal human development
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
A nonsense mutation in the alpha 1 subunit of the inhibitory glycine receptor associated with bovine myoclonus
MOLECULAR AND CELLULAR NEUROSCIENCE
Genetic variation in two conserved local Romanian pig breeds using type 1 DNA markers
GENETICS SELECTION EVOLUTION
Hypermutation in bacteria and other cellular systems
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES
Gly15Gly polymorphism within the human adipocyte-specific apM-1gene but not Tyr111His polymorphism is associated with higher levels of cholesterol and LDL-cholesterol in caucasian patients with type 2 diabetes
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
Compound heterozygosity for alpha-1-antitrypsin (S-iiyama and QO(clayton))in an oriental patient
INTERNAL MEDICINE
Frameshift mutations at mononucleotide repeats in RAD50 recombinational DNA repair gene in colorectal cancers with microsatellite instability
JAPANESE JOURNAL OF CANCER RESEARCH
AgRP(83-132) acts as an inverse agonist on the human-melanocortin-4 receptor
MOLECULAR ENDOCRINOLOGY
Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha 2(I) and severe osteogenesis imperfecta
JOURNAL OF BONE AND MINERAL RESEARCH
Melanocortin receptors and human obesity
M S-MEDECINE SCIENCES
Lack of association between hepatocyte nuclear factor-1 beta gene and common forms of Type 2 diabetes in the Japanese population
DIABETES NUTRITION & METABOLISM
Clinical and hematologic features of beta(o)-thalassemia (frameshift 41/42mutation) in Thai patients
HAEMATOLOGICA
The gene structure and minimal promoter of the human agouti related protein
GENE
A TGF beta RII frameshift-mutation-derived CTL epitope recognised by HLA-A2-restricted CD8(+) T cells
CANCER IMMUNOLOGY IMMUNOTHERAPY
A new gene related to human obesity identified by suppression subtractive hybridization
INTERNATIONAL JOURNAL OF OBESITY
The genetics of obesity: practical implications
INTERNATIONAL JOURNAL OF OBESITY
Agouti-related protein functions as an inverse agonist at a constitutivelyactive brain melanocortin-4 receptor
REGULATORY PEPTIDES
Hypothalamic neuropeptide mechanisms for regulating energy balance: from rodent models to human obesity
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa
AMERICAN JOURNAL OF MEDICAL GENETICS
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
BRCA1, BRCA2 and breast cancer: a concise clinical review
CLINICAL AND INVESTIGATIVE MEDICINE-MEDECINE CLINIQUE ET EXPERIMENTALE
Conversion of a peroxiredoxin into a disulfide reductase by a triplet repeat expansion
SCIENCE
Genetic alterations in the human Tcf-4 gene in Japanese patients with sporadic gastrointestinal cancers with microsatellite instability
ONCOLOGY
Integrated control of appetite and fat metabolism by the leptin-proopiomelanocortin pathway
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Stationary-phase mutation in the bacterial chromosome: Recombination protein and DNA polymerase IV dependence
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Yellow mice, red hair, and childhood obesity: The melanocortinergic pathway in energy homeostasis
JOURNAL OF PEDIATRICS
Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children
JOURNAL OF PEDIATRICS
Directionality of DNA replication fork movement strongly affects the generation of spontaneous mutations in Escherichia coli
JOURNAL OF MOLECULAR BIOLOGY
Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta
JOURNAL OF MEDICAL GENETICS
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
JOURNAL OF MEDICAL GENETICS
Axonal secretion of Reelin by Cajal-Retzius cells: Evidence from comparison of normal and Reln(Orl) mutant mice
JOURNAL OF COMPARATIVE NEUROLOGY
A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
Naturally occurring mutations in the melanocortin receptor 3 gene are not associated with type 2 diabetes mellitus in French Caucasians
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
Cerebrospinal fluid and plasma concentrations of leptin, NPY, and alpha-MSH in obese women and their relationship to negative energy balance
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
A cryptic melibiose transporter gene possessing a frameshift from Citrobacter freundii
JOURNAL OF BIOCHEMISTRY
Comparison of Delta relA strains of Escherichia coli and Salmonella enterica serovar typhimurium suggests a role for ppGpp in attenuation regulation of branched-chain amino acid biosynthesis
JOURNAL OF BACTERIOLOGY
Mutations of p53 gene in human colorectal cancer: Distinct frameshifts among populations
INTERNATIONAL JOURNAL OF CANCER
Coupled phase-variable expression and epitope masking of selective surfacelipoproteins increase surface phenotypic diversity in Mycoplasma hominis
INFECTION AND IMMUNITY
Inconsistent effects of the proline(12) -> alanine variant of the peroxisome proliferator-activated receptor-gamma 2 gene on body mass index in children and adolescent girls
FERTILITY AND STERILITY
Splice site mutation in the hepatocyte nuclear factor-1 beta Gene, IVS2nt+1G > A, associated with maturity onset diabetes of the young, renal dysplasia and bicornuate uterus
DIABETOLOGIA
Effects of chronic central nervous system administration of agouti-relatedprotein in pair-fed animals
DIABETES
beta-Spectrin S-ta Barbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism
BRITISH JOURNAL OF HAEMATOLOGY
Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A
BRAIN
Structure activity studies of the melanocortin-4 receptor by in vitro mutagenesis: Identification of agouti-related protein (AGRP), melanocortin agonist and synthetic peptide antagonist interaction determinants
BIOCHEMISTRY
A role for the Agouti-Related Protein promoter in obesity and type 2 diabetes
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6
ANNALES DE GENETIQUE
Multiple endocrine neoplasias
SEMINARS IN SURGICAL ONCOLOGY
Genetic changes in solid tumors
SEMINARS IN SURGICAL ONCOLOGY
The future of leptin and leptin analogues in the treatment of obesity
DIABETES OBESITY & METABOLISM
The role of melanocortin signalling in the control of body weight: evidence from human and murine genetic models
QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
Host-pathogen interactions in mycoplasma pathogenesis: Virulence and survival strategies of minimalist prokaryotes
INTERNATIONAL JOURNAL OF MEDICAL MICROBIOLOGY
How obesity develops - Insights from the new biology
ENDOCRINE
Novel anti-obesity drugs
EXPERT OPINION ON INVESTIGATIONAL DRUGS
Inactivation of the mouse melanocortin-3 receptor results in increased fatmass and reduced lean body mass
NATURE GENETICS
Mahogany/Attraction: Enroute from phenotype to function
TRENDS IN CARDIOVASCULAR MEDICINE
Implications of proopiomelanocortin (POMC) mutations in humans: The POMC deficiency syndrome
TRENDS IN ENDOCRINOLOGY AND METABOLISM
Genetics of Hirschsprung disease
CURRENT OPINION IN PEDIATRICS
A beta-thalassaemia allele with 3 base substitution in codons 4/5 & 6 (ACTCCT GAG ACA TCT TAG) detected by denaturing gradient gel electrophoresis & sequencing
INDIAN JOURNAL OF MEDICAL RESEARCH
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene
HUMAN MOLECULAR GENETICS
Role of the melanocortin-4 receptor in metabolic rate and food intake in mice
TRANSGENIC RESEARCH
Molecular mechanisms of alpha(1)-antitrypsin null alleles
RESPIRATORY MEDICINE
Processing of frameshifted vasopressin precursors
JOURNAL OF NEUROENDOCRINOLOGY
A polymorphic marker in the leptin gene associated with Japanese morbid obesity
JOURNAL OF MOLECULAR MEDICINE-JMM
A missense variant of the porcine melanocortin-4 receptor (MC4R) gene is associated with fatness, growth, and feed intake traits
MAMMALIAN GENOME
Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population
INTERNATIONAL JOURNAL OF HEMATOLOGY
Hot papers - Leptin or 'pubertin'? - Comment
SCIENTIST
Genetics of obesity: towards an understanding of a complex syndrome
PRESSE MEDICALE
Melanocortins and feeding behavior
BIOMEDICINE & PHARMACOTHERAPY
Differential role of melanocortins in mediating leptin's central effects on feeding and reproduction
AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy
CROATIAN MEDICAL JOURNAL
PMP22 Thr118Met is not a clinically relevant CMT1 marker
JOURNAL OF NEUROLOGY
Epidemic obesity: are genetic factors involved via increased rates of assortative mating?
INTERNATIONAL JOURNAL OF OBESITY
Melanocortin 3 receptor (MC3R) gene variants in extremely obese women
INTERNATIONAL JOURNAL OF OBESITY
Pseudohypoparathyroidism - another monogenic obesity syndrome
CLINICAL ENDOCRINOLOGY
Adaptive amplification: An inducible chromosomal instability mechanism
CELL
Adaptive mutation in Escherichia coli
COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY
The acquisition of obesity: insights from cellular and genetic research
PROCEEDINGS OF THE NUTRITION SOCIETY
Pro-opiomelanocortin (POMC) deficiency and peripheral melanocortins in obesity
NUTRITION REVIEWS
Disproportionate inhibition of feeding in A(y) mice by certain stressors: A cautionary note
NEUROENDOCRINOLOGY
Obesity in the new millennium
NATURE
A metabolic defect promotes obesity in mice lacking melanocortin-4 receptors
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Transposon stability and a role for conjugational transfer in adaptive mutability
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
The SOS response regulates adaptive mutation
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Genome-wide search for genes related to the fat-free body mass in the Quebec family study
METABOLISM-CLINICAL AND EXPERIMENTAL
A novel deletion mutation within the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease
JOURNAL OF THE NEUROLOGICAL SCIENCES
A novel mutation of the McLeod syndrome gene in a Japanese family
JOURNAL OF THE NEUROLOGICAL SCIENCES