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  June 14, 2024
your information resource in human molecular genetics
- Fueling Fire In The Gut
Our intestines have specialized cells that promote immune responses to various stimuli in their environment.
- Testing Cancer Genes
Scientists use genetically engineered human tissue in a new approach to determine which mutations are sufficient to promote cancer progression.
- CD22 Binding Captured
A surface protein central to immune response homo-binds to other molecules like itself.
- Protein Determines Fate Of Reproductive Cells In Mice
A known transcriptional factor plays a critical role in the specification of germ cells in mice.
- MicroRNAs Control Development Of Heart Muscle Cells
A small RNA element regulates the balance between differentiation and proliferation of cardiac muscle cells in mice.
- MicroRNAs Give Stem Cells The Green Light
Scientists identify part of mechanism that allows stem cells to continue replicating.
- MicroRNAs Play A Major Role In Cancer
Three different teams of scientists working independently have found that microRNAs also have an important role in human cancers.
- Cancer Chemoprevention By The Antioxidant Tempol Acts Partially Via The P53 Tumor Suppressor
Chemopreventative effect of tempol may be related to p53 pathway activation.
- Variant Prion Protein Causes Infection But No Symptoms
Finding Could Have Implications for Alzheimer’s Disease
- Experimental Shingles Vaccine Proves Effective in Nationwide Study
Stronger version of chickenpox vaccine cuts incidence and severity of shingles in older adults.
- Genetic Variation Affects Response to Common Anti–Clotting Drug
Customized dosing of warfarin may be possible thanks to the gene for vitamin K epoxide reductase (VKORC1).
- Indoor Allergens from Childcare Centers
Common allergens from fungus, cats, cockroaches, dogs, dust mites, and mice found in day care centers.
- Diabetics More Sensitive to Cardiovascular Effects from Air Pollution
Fine particles found in urban air pollution may impair ability of blood vessels to control blood flow in adults with diabetes.
- Human Kidney Protein Found that Regulates Heart Contraction and Blood Pressure
Renelase is a strong candidate for easily administered treatment of advanced kidney and cardiovascular disease
- Hydrolethalus Syndrome Is Caused By A Missense Mutation In A Novel Gene HYLS1
The authors identified an HLS associated mutation in the HYLS1 gene.
- Novel Modifier Loci Of Aganglionosis In Hirschsprung Disease Identified
Studies in HSCR families have identified RET-dependent modifiers for short-segment HSCR (S-HSCR).
- A Noisy Basis For Dyslexia
Dyslexic children are much worse than non-dyslexic children at seeing visual signals through noise.
- New Strategy Makes Proteins A Better Drug Target
Findings promise to considerably simplify the study of protein kinases.
- Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice
The authors report a genetic flaw that markedly reduced the intracellular expression of the high mobility group A1 (HMGA1).
- Stat3 Is Required For ALK-Mediated Lymphomagenesis
Stat3 provides a possible therapeutic target.
- Stiff Handling Of Genes
The efficacy of materials for carrying genes into cells may be determined by their stiffness.
- Diverse Patterns Of Somatic Mutations In Human Breast Cancer Identified
A previously hidden diversity of mutational processes may exist in breast cancer.
- A New Mechanism Behind Atherosclerosis
Abnormal metabolism in arterial walls can cause atherosclerosis.
- Testicular Cancer Gene Identified
Scientists identify a gene that causes testicular cancer in mice.
- Discovery of How Insulin Allows Entry of Glucose Into Cells
Researchers from the National Institutes of Health have discovered the critical sequence of events by which insulin stimulates the entry of glucose into fat cells.
- Now Showing - Prion Proteins Invasion and Motility
Scientists Observe for the first time how infectious prion proteins invade and move within brain cells.
- Human Cells Can "Silence" HIV Genes
HIV protein, Tat, silenced by sequence-specific siRNA in human cells.
- Better Kidney Function Test to Predict Death and Cardiovascular Outcomes
Cystatin-C is a better predictor of death and cardiovascular risk among the elderly than the creatinine.
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- Disentangling Fetal And Maternal Susceptibility For Pre-Eclampsia
The Genetics of Pre-Eclampsia (GOPEC) collaboration aims to identify genetic factors in U.K. families affected by pre-eclampsia.
- Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene
Disturbances in blood levels of thyroid hormones suggest the possibility of systematic detection through screening of high-risk populations.
- Mapping Of A Single Locus Capable Of Complementing The Defective Heterochromatin Phenotype Of RS Cells
Complementation of this abnormal cytogenetic phenotype was used as a means to identify a specific region of the normal human genome capable of rendering phenotypic correction.
- Brain Changes Over The Menstrual Cycle
Report may provide a molecular basis for some of the hormonal fluctuations over the course of the menstrual (or estrus) cycle.
- Race-Related Brain Activity
Report shows that the brain area called the amygdale, that is involved in emotional processing, is activated in response to pictures of same-race faces.
- Wiring The Brain For Depression
Healthy carriers of a gene that increases the risk of depression have altered activity in brain circuits involved in emotion.
- Human Trial Shows Potential And Limitations Of Anti-HIV Antibodies
A clinical trial in a small group of HIV-1 infected patients has provided the first direct proof in humans that antibodies can control the virus -- but only for a very short time.
- Stiff Handling Of Genes
The efficacy of materials for carrying genes into cells may be determined more by their stiffness than by their chemical properties.
- Bacterial Trojan Horses
New work identifies an important molecule to target against Brucella infections in both humans and animals.
- RNA Enzymes Use Acid
Researchers show how a RNA molecule from the hepatitis delta virus (HDV) uses an acidic group to accelerate a chemical reaction central to its life cycle.
- Fat: The Big Picture
Research identifies the network of genes required for early steps in the development of brown fat cells.
- Molecule That Induces Tumour Regression
A promising approach to eliminate cancer cells is to trigger cell death (apoptosis) with inhibitors that bind to and block anti-apoptotic proteins that help keep cancer cells alive.
- Interactions Between Separate Chromosomes Might Control Gene Expression
Physical interaction between chromosomes might play an important role in coordinating gene expression in the nucleus of higher organisms.
- Insulin Triggers Autoimmune Response In Diabetes
Two groups of researchers provide convincing proof that insulin itself initiates the devastating autoimmune response associated with Type I Diabetes.
- New Disease/Phenotype Technical Standards And Guidelines Now Available On-Line
Prenatal Screening for Down Syndrome, Open Neural Tube Defects, Venous Thromboembolism
- ACMG's Revised Guidelines For Cystic Fibrosis Population Carrier Testing
Link to free copy of the guidelines is provided in this posted summary.
- International Team Determines Geographic Origin of Leprosy
Leprosy likely originated in East Africa and spread to Asia and Europe before being imported into West Africa by explorers.
- Mouse Gene Accounts For Blood Abnormalities and Parkinson's Symptoms
Iron Regulatory Protein 2(IRP2) knockout mice which develop develop Parkinson's -like symptoms also develop anemia and signs of a rare skin condition.
- MLC1 Gene may have a role in the aetiology of both schizophrenia and bipolar disorder
Indian study finds associations with MLC1 polymorphisms and haplotypes
- Depression Gene May Weaken Mood-Regulating Circuit
A brain scan study suggests that a suspect gene may increase susceptibility to anxiety and depression by weakening a circuit for processing negative emotion.
- Survival of Pathogenic Bacterium Inside Neutrophils
A delay in apoptosis of human neutrophils allows bacteria enough time to multiply and cause infection.

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