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  June 14, 2024
your information resource in human molecular genetics
- Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism
Aminoacylase 1 (ACY1) mutations lead to functional ACY1 deficiency and excretion of N-acetylated amino acids.
- A Genomewide Search Finds Major Susceptibility Loci For Gallbladder Disease On Chromosome 1 In Mexican Americans
Research presents significant evidence of major genetic determinants of symptomatic GBD on chromosome 1p in Mexican Americans.
- Modeling Stroke With Increased Precision
Scientists have found a way to model different types of stroke with unprecedented precision by targeting individual rat blood vessels with controlled laser bursts.
- Fighting Legionnaires' Disease
New research indicates how the immune system fights bacteria causing the severe pneumonia Legionnaires' disease.
- HIV Nef Damages Antibody Responses
Report of a new mechanism by which human immunodeficiency virus (HIV) cripples immune responses in virus-infected AIDS patients.
- Genetics Of Earwax Determination
Research presents evidence of the genetic basis that determines whether human earwax (cerumen) is wet or dry.
- Stopping The Spiral
Research findings have important implications for designing new proteins with improved properties, perhaps using left-handed amino acids.
- HIV-1 Infection Explained
Scientists present an insight on the development of AIDS from HIV-1.
- Emerging diabetes drugs in early development
The complexity of glucose metabolism and the number of cellular processes affected by diabetes provides ample space for new drug targets and for first-in-class molecules.
- RNA eye: A new player in anti-neovascular therapy
The knockdown of VEGFR-1 with a modified siRNA shows remarkable efficacy in two mouse models of retinal angiogenesis associated with macular degeneration or diabetic retinopathy.
- Chimp/Human Antibodies Can Protect Against Smallpox
Hybrid laboratory antibodies derived from chimpanzees and humans may provide a potentially safe and effective way to treat the serious complications that can occur following smallpox vaccination
- New Clinical Trial for Polycystic Kidney Disease Launched
An opportunity to aid research
- Racial Differences in Teenage Nicotine Metabolism
How nicotine is metabolized can influence which smoking cessation therapies to employ.
- High interest in inhibitors of the novel target sodium-dependent glucose (co-) transporter (SGLT) for therapy of type 2 diabetes
A plethora of SGLT inhibitors in the patent literature and seven compounds in early clinical development indicate an abundance of interest in the therapeutic use of SGLT inhibitors for the treatment of type 2 diabetes.
- A Promising siRNA Microbicide for Sexually Transmitted Disease
siRNA, targeting essential genes of the herpes simplex virus 2, offer durable protection that results in reduced morbidity in a preclinical model.
- Continuous Antiretroviral Therapy Superior to Episodic Therapy in HIV Treatment
In the SMART clinical trial, it was found that patients receiving episodic therapy had twice the risk of disease progression.
- Study Links Alzheimer's Disease to Abnormal Cell Division
A new study in mice suggests that Alzheimer's disease (AD) may be triggered when adult neurons try to divide.
- Genetic Protection Against HIV May Mean Higher Risk for West Nile Virus
Lack of cell surface protein, CCR5, causes resistance against HIV, but may be needed to develop resistance against West Nile Virus.
- Soy Can Cause Reproductive Problems
Genistein, a major component of soy, causes reproductive problems in laboratory mice.
- Tight race to be the first in a new class of dipeptidyl peptidase IV (DPP-IV) inhibitors for the oral treatment of type 2 diabetes
New oral treatment modality for type 2 diabetes.
- Cracking The Genetic Code For Control Of Gene Expression
Genome-wide Prediction of Mammalian Enhancers Based on Analysis of Transcription-Factor Binding Affinity
- deCODE Discovers Major Genetic Risk Factor for Type 2 Diabetes
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
- Retinopathy: Ribozymes, Receptors and Really tight junctions
Increased blood sugar leads to vascular permeability, increased VEGF pathway expression and induction of angiogenesis. New research pinpoints the main players in this process and highlights therapeutic avenues for intervention.
- Relation Between Increased Fetal Nuchal Translucency Thickness and Chromosomal Defects.
The prevalence and distribution of all chromosomal defects in fetuses with increased nuchal translucency thickness were examined.
- Brain Cholesterol Metabolism And Alzheimer’s Disease
Regulating cholesterol levels in the brain decreases levels of the Amyloid-beta peptide which is thought to be the causative agent involved in the pathology of Alzheimer's disease.
- Grammar For Proteins
Grammatical rules can be applied to describe the functions of proteins.
- Novel Mutation Could Improve Response To Therapy
Scientists report a novel mutation in the epidermal growth factor receptor (EGFR) gene that could change the way that EGFR targeted therapies are given to patients with non-small-cell lung cancer.
- Fighting The Fat
The level of a simple substance in a small brain region may act as a crucial signal in the regulation of body weight.
- Determining Brain Gender
Scientist explain the function of a protein called alpha-fetoprotein (AFP) which binds to and regulates gender-determining estrogen during fetal development.
- Why Infections Sometimes Suppress Immunity
New light is shed on the mechanisms of infection-induced immunosuppression.
- Targeting Leukemia
Report of a new inhibitor of Bcr-abl kinase, a key therapeutic target for treating chronic myelogenous leukemia (CML).
- Sneaking Into DNA
Two anti-tumor agents are able to modify DNA, even when it is all bound up inside cells.
- Why the Brain Has "Gray Matter"
Interdisciplinary approach attempts to explain structural differences of the central nervous system.
- The Air You Breathe Might Contribute to Atherosclerosis
Air pollution and a high fat diet are found to be contributing factors in the development of Atherosclerosis.
- Tight Glucose Control Cuts Heart Disease by Half in Diabetic Patients
Glucose control is better than taking drugs in preventing cardiovascular events in Type 1 Diabetic patients.
- Combined Techniques Strengthen Alzheimer's Disease Detection
Brain imaging combined with beta-amyloid measurements advances detection.
- A New Approach to Anti-Inflammatory Drug Development
Synergy between two inflammatory pathways may open the door to a new class of drugs.
- Delivering Treatment For Parkinson's
Article describes a delivery method that uses human neural progenitor cells (hNPC) which are genetically engineered to produce GDNF - a molecule that increases the survival and functioning of dopamine-neurones and decreases symptoms of the disease.
- Promoting Spinal Cord Regeneration
Retinoic acid receptor beta 2 (RARbeta2) may promote regeneration of axons in the adult rat spinal cord and improve functional recovery after spinal cord injury.
- How A Neurodegenerative Disease Gene Kills Neurons
Motor neurons secrete a mutant protein produced from this gene, setting off a chain of events that leads to cell death.
- Susceptibility To SARS Infection
A new study reports that individuals with particular combinations of genetic variants are less susceptible to infection by the SARS virus.
- Insight Into Angiogenesis
An Insight article describes many of the physiological and pathophysiological processes of both angiogenesis and lymphogenesis - the growth of new lymph vessels.
- Pancreatic Cancer Linked to Insulin Resistance in Male Smokers
Data strengthens link between diabetes and cancer.
- Tumor Suppressor Role for TLR4 gene
TLR4 suppresses lung inflammation, which can also reduce the risk of tumor development.
- Human "Epigenome" Project
A call by international scientists for a large scale effort to map chemical modifications to DNA.
- Dog Genome Published
Dog's may help humans more than we ever realized!
- Molecule of the Year 2005 is 4E10
For being the broadest acting neutralizing antibody against HIV-1
- Wealth, Not Chemicals, Increase Breast Cancer Risk
Women who live in certain regions of the United States have a significant increase in breast cancer risk, compared with the rest of the US, but this is an effect of affluence rather than pollution.
- A Cracked Mirror In Autistic Children
Autistic children have less activation in a brain area containing neurons that are involved in understanding others' state of mind.
- Boosting Gene Expression On The X
Study finds that genes present on the X chromosome are expressed at approximately the same level as those found on non-sex chromosomes.

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