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  June 14, 2024
your information resource in human molecular genetics
- Potholes Common In The Human Genome
Three new studies highlight the dramatic and very common ways in which the genomes of individual people can differ from one another.
- Tumours Prepare Sites Of Metastasis Formation
Study finds that tumours help prepare remote sites in the body for the formation of metastases.
- Viruses Need To Make Mistakes To Better Infect Hosts
Certain (RNA) viruses that copy their genome too accurately are less infectious than normal viruses.
- Epistasis Unravelled In Bardet-Biedl Syndrome
Scientists have succeeded in demonstrating and dissecting epistasis in Bardet-Biedl syndrome (BBS), an illness often characterized by obesity and learning deficits.
- How HIV Keeps Hiding
Researchers have found a way to explain how the human immunodeficiency virus (HIV) can be kept dormant and hidden in immune cells.
- Showing Strong Association with Late-Onset Alzheimer Disease
Variants in the RPS3A homologue are associated with late-onset Alzheimer disease (LOAD) and implicate this gene, adjacent genes, or other functional variants (e.g., noncoding RNAs) in the pathogenesis of this disorder.
- Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia
Study showed that DCDC2, which contains a doublecortin homology domain that is possibly involved in cortical neuron migration, is expressed in the fetal and adult CNS.
- A Testing Framework for Identifying Susceptibility Genes in the Presence of Epistasis
An efficient testing strategy called the "focused interaction testing framework" (FITF) was developed to identify susceptibility genes involved in epistatic interactions for case-control studies of candidate genes.
- Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2
The authors report the extensive testing of the enhancer-loss and silencer-gain models by mutagenesis, RNA interference, overexpression, RNA splicing, and RNA-protein interaction experiments.
- A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)
These findings define a novel form of human HPS (HPS8) and extend genotype-phenotype correlations in HPS.
- Two telltales: a tale of a tail
Continuing his work on Histone H3 epigenetic modifications, Allis and coworkers show the regulation of pericentromeric HP1 binding by two simultaneous modifications of adjacent residues in Histone H3
- Understanding how we sense taste
Two key receptors involved in taste show how taste is communicated to the brain.
- Virtual Colonoscopy: The Future of Cancer Detection
Computer-Aided Polyp Detection Software in Combination with Virtual Colonoscopy is as Effective as Traditional Optical Colonoscopy
- Progressive Aphasia Syndrome linked to Prion Gene
First evidence that there may be a specific gene involved in progressive aphasia syndrome.
- Gene for Fear Discovered: Implications for Anxiety Disorders
When the gene for stathmin is knocked out, mice showed less anxiety and are prone to more exploration.
- Defective gene associated with altered brain development and reading disability
A study into the genetic basis of reading disability has identified a deletion in the DCDC2 gene, located on chromosome 6p22, that predisposes individuals to the disorder.
- Choroidal Neovascularisation – Do you give an Eph?
Apparently so; in a recent publication, scientists show that that introduction of soluble EphB4 efficiently inhibits VEGF-induced migration, tube formation and neovascularisation.
- Cardiovascular safety determines the direction of PPAR agonist R&D
The two peroxisome proliferator-activated receptor (PPAR) gamma agonists pioglitazone and rosiglitazone approved for treatment of type 2 diabetes achieved combined 2004 global sales of US$ 3.96 bln
- World Community Grid Targets AIDS in Giant Research Effort
Second project will help determine effective AIDS therapies
- 9/11 Panel Makes Recommendations for DNA-Based Identification After Mass Disasters
Team Effort Identified 850 World Trade Center Victims
- Earliest Animals Had Human-like Genes
Species evolve at very different rates, and the evolutionary line that produced humans seems to be among the slowest.
- Alzheimer's Vaccine Reviewed
A controversial vaccine that was the subject of a halted trial to prevent cognitive decline in Alzheimer's patients could have the potential to be reformulated to eliminate its toxicity while retaining the benefits.
- A Silent Killer
Scientists suggest a mechanism that may selectively silence the electrical activity of dopamine producing neurons.
- Remote-Controlled Gene Delivery
Synthetic gene-delivery system has great implications for the development of targeted gene therapy based on non-viral systems.
- Visualizing Suppression Of Autoimmune Disease
Scientists have devised a way to view how autoimmunity is averted.
- Perfect Fit For Immune Recognition
Mice lacking a particular enzyme exhibit abnormal immune responses, resulting from a less than perfect fit of protein bits displayed to immune cells.
- Activating Smoothened
Scientists report on the protein target of a small molecule known to induce stem cell differentiation.
- Polycystic Kidney Disease Unravelled
New results unravel how two mutated genes operate in causing abnormal cell proliferation in autosomal dominant polycystic kidney disease (ADPKD).
- DISC1, Neuronal Development And Schizophrenia
A change in the function of a protein in the cerebral cortex may contribute to the subtle neuronal defects observed in the brains of patients with schizophrenia.
- siRNA-Based Microbicide Stops Herpes
Scientists have developed a microbicide that protects mice against the lethal genital herpesvirus (HSV-2).
- Molecular Diagnosis Of Human Cancer Type By Gene Expression Profiles And Independent Component Analysis
Scientists have devised a novel pattern recognition procedure based on independent component analysis (ICA).
- Analysis Of Four Neuroligin Genes As Candidates For Autism
Researchers conclude that neuroligin mutations most probably represent rare causes of autism.
- Mutation Analysis Of The WFS1 Gene In Seven Danish Wolfram Syndrome Families; Four New Mutations Identified
Four new mutations have been identified in the WFS1 gene associated with autosomal recessive (AR) wolfram syndrome (WS).
- The Phenotype Of Second And Third Toe Syndactyly Maps To Chromosome 3p21.31
The authors propose to group the type I syndactyly condition into four subtypes, which are all autosomal dominantly inherited.
- Novel And De Novo Mutations Of The IRF6 Gene Detected In Patients With Van Der Woude Or Popliteal Pterygium Syndrome
Scientists report 10 mutations in Van der Woude (VWS) and popliteal pterygium syndrome (PPS) genes.
- Mutation Spectrum Leading To An Attenuated Phenotype In Dystrophinopathies
Study characterizes mRNA changes associated with five novel point mutations giving rise to a Becker muscular dystrophy (BMD) phenotype.
- Engineered Zinc Finger Proteins make the Heart Beat Stronger
The use of an engineered zinc finger transcriptional repressor offers a new avenue of attack for congestive heart failure patients
- Promising pancreatic cancer data from a genetically engineered vaccine
Non-patient specific GVAX data for pancreatic cancer points to impressive efficacy using GM-CSF mediated T cell activation
- Getting Lymphocytes Going
Scientists report that 'microclusters' of molecules are the discrete physical structures required for triggering and, importantly, sustaining immune signals.
- Allergy Safety Pins
Researchers identify the enzyme Pin1 that increases the stability of mRNAs encoding GM-CSF.
- Heart Risk From Inflammmatory Gene Variant
A common variant of a gene involved in inflammation is 3.57 times more common in African American individuals who have had a heart attack than in African Americans who have not.
- Small-Molecule Suppressor
Research paper reports a small molecule that suppresses the phenotype of a zebrafish mutation.
- Skeletons In Cancer's Closet
Scientists have found the mechanism of action of a natural product known to be toxic to cancer cells.
- Agonizing Over CD40
A new approach to targeting cellular receptors in the immune system using small molecules.
- A Path To Beating Cancer
Two studies report promising developments in promoting more targeted and effective cancer treatment regimes in the future.
- Mitochondrial Import And Enzymatic Activity Of PINK1 Mutants Associated To Recessive Parkinsonism
Study describes effects of mutations to a putative mitochondrial kinase, PINK1, as well as mitochondrial localization of the wild-type and mutant PINK1 proteins.
- Multiple Mutations In Mouse Chd7 Provide Models For CHARGE Syndrome
Study finds widespread expression of Chd7 in early development of the mouse in organs affected in CHARGE syndrome.
- Cannabinoid Receptor Type 2 Gene Is Associated With Human Osteoporosis
The results provide an interesting novel therapeutical target for this severe and common disease.
- Novel Discovery Of 'DCDC2' Gene Associated With Dyslexia
DCDC2 is associated with reading disability and modulates neuronal development in the brain.
- Forgotten by evolution?
Adult Stem Cells May Be Just Remnants Of Evolution

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