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  June 14, 2024
your information resource in human molecular genetics
- One Step Toward More Efficient Cloning
A one-step somatic cell nuclear transfer procedure using a differentiated cell as a nuclear donor is reported for the first time.
- Controlling The Insulin-Degrading Enzyme May Relieve Alzheimer's Disease
The structure of an enzyme that degrades insulin and amyloid-beta suggests a possible way to design drugs that combat the abnormal levels of these proteins in sufferers of diabetes or Alzheimer's disease.
- Drug Target For Obesity?
A molecule that makes mammals feel full up has been identified.
- Potential Cure for Type 1 Diabetes in Islet Transplantation
Clinical Trial Shows Islet Transplantation is a Promising Procedure For Certain Patients with Severe Type 1 Diabetes
- H9N2 Avian Flu Vaccine Paired with Adjuvant Provokes Strong Human Immune Response
Clinical trial reports that when combined with an adjuvant, low doses of an experimental vaccine against a strain of avian influenza (H9N2) provoked a strong antibody response in human volunteers.
- Another Gene Implicated in Cleft Lip and Palate
Underexpression of SUMO1 can cause the world's most common birth defect, cleft lip and palate.
- Connectivity Map
Using gene-expression signatures to connect small molecules, genes, and disease
- Jumping gene could provide non-viral alternative for gene therapy
piggyBac is a flexible and highly active transposon as compared to Sleeping Beauty, Tol2, and Mos1 in mammalian cells
- Cranking the CD36: Music to the diseased eye
By activating the CD36 receptor, scientists have shown an impressive inhibition and even regression of neovascularization in an inflammatory corneal mouse model.
- Early to Bed, Early to Rise: Genetics of the morning lark
Differential effects of PER2 phosphorylation: molecular basis for the human familial advanced sleep phase syndrome
- Innate Immune Defence At Work
Genetic study could help in the design of better therapies to treat some cases of immunodeficiency and inflammation.
- Exploring The Impact Of The HPV Vaccine
Scientist say that the most effective strategies would involve the mandatory vaccination of girls before they reach sexual maturity and global distribution of the vaccine.
- Heart Disease A 'Male-Only' Condition Is A Myth
Scientist explores what we can do to improve the identification and care of women with and at risk of heart disease.
- Focus On Childhood Developmental Disorders
A special focus issue on childhood developmental disorders, including specific language impairment and dyslexia, autism, and the mental retardation syndrome fragile X.
- Tracking HIV In Its Voyage Within The Cells
A new technique to visualize HIV particles inside infected cells as they make their way to the nucleus is reported.
- Drug And Gene Therapies Get Synchronized
Cancer can be tackled with a combination of drug and genetic therapies, such that the effectiveness of the individual treatments are enhanced.
- The Fake Tan That Protects Against Cancer
Researchers have come up with a skin treatment that not only causes sunless tanning in skin, but could also counter the effects of ultraviolet rays and protect against cancer.
- Statistics Point To A Genetic Link To Prostate Cancer in African Americans
Admixture analysis that screens for gene variants indicates a 3.8Mb segment on chromosome 8q24 is associated with susceptibility to prostate cancer.
- Delivery improvements of the AMD-drug Lucentis on the way
The anti-VEGF Fab Lucentis is the new standard of care to treat AMD because it can improve visual acuity.
- Identification Of The Gene Encoding The Enzyme Deficient In Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C)
Gene Encoding The Enzyme Deficient In Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C) identified.
- A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis
Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis.
- Mutations In CABP4, The Gene Encoding The Ca2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness
Mutations in CABP4, the gene encoding the Ca2+-Binding Protein 4, cause autosomal recessive night blindness
- AAV-Mediated Expression Of CNTF Promotes Long-Term Survival And Regeneration Of Adult Rat Retinal Ganglion Cells
Study compares the effects of intravitreal injection of bi-cistronic AAV-2 vectors encoding enhanced GFP and either CNTF, BDNF or GAP43 on RGC survival and regeneration.
- Adenoviral Expression Of XIAP Antisense RNA Induces Apoptosis In Glioma Cells And Suppresses The Growth Of Xenografts In Nude Mice
Infection of malignant glioma cells and several other tumor cell lines with adenoviruses encoding antisense RNA to X-linked IAP (XIAP) depletes endogenous XIAP levels and promotes global caspase activation and apoptosis.
- Gene Therapy Progress And Prospects: Non-Viral Gene Therapy By Systemic Delivery
Review focuses on the progress made over the last 2 years, and some future prospects for gene delivery.
- A Novel Trick Of An Old Friend
A form of the well-known protein, p53, appears to promote brain nerve fibre regeneration in a mouse model.
- A Novel Trick Of An Old Friend
A form of the well-known protein, p53, appears to promote brain nerve fibre regeneration in a mouse model.
- Attention Can Impair Visual Perception
Study reports that sustained attention actually worsens the perception of some visual stimuli.
- Understanding Why H5N1 Is So Lethal
A study of patients who became infected with H5N1 in Vietnam reveals clues as to why the avian influenza virus is so virulent.
- Regulating The Immune Response
A protein called SARM -- SAM and ARM-containing protein -- helps to regulate the immune response against invading pathogens.
- Excess Wnt Kills
Excessive stimulation of bone marrow stem cells in mice leads to severe anemia and ultimately death.
- FDA Spearheads Microarray Quality Control Project
A major, multi-center study comparing the reliability of an emerging technology for measuring human gene expression is reported.
- RNA Interference Screens Questioned
Many genes identified as targets of RNA interference (RNAi) in the fruitfly Drosophila could be false.
- APTX Helps Mend Broken DNA
Mutations in the gene aprataxin (APTX) are responsible for the rare neurological disorder ataxia oculomotor apraxia-1 (AOA1).
- Understanding Ageing
Three papers help answer why progenitor cells gradually lose their ability to divide and generate new cells as they grow old.
- Two Faces Of p53
Research paper challenges the conventional view of p53, a central protein in protecting against cancer.
- Molecules in Blood Foretell Development of Preeclampsia
Soluble endoglin and soluble fms-like tyrosine kinase 1 (sFlt1) implicated in causing preeclampsia.
- wet AMD: CEPsis of the retina?
A protein modification has been identified that directly leads to the dry-to-wet transition in age-related macular degeneration
- United States Approval of First Totally Implanted Permanent Artificial Heart
Many scientists's dreams become a reality.
- Bipolar Disorder in the Workplace
Productivity lags even after mood lifts.
- New Method of Gene Therapy To Treat Advanced Melanoma
Using gene therapy, one's own immune cells can be altered to attack melanoma cancer cells. This technique may also work in other common cancers.
- A Regulatory Role for the Estrogen Receptor Beta Isoforms
Seemingly inactive estrogen receptors beta-2, -4, and -5 form heterodimers with the active beta-1 isoform, thereby enhancing its effectiveness as a type I nuclear receptor. But in so doing, they bestow it with properties of a type II nuclear receptor.
- Cardioprotective Action Of Statins
A novel beneficial action of statins is reported in a study.
- Glia Contribute To Neurodegeneration
Glia contribute to neurodegeneration in the progressive disease spinocerebellar ataxia type 7 (SCA7) because a mutation they express interferes with the transport of a neurotransmitter.
- Fatherhood Changes Brain Anatomy
Marmoset fathers show changes in brain structure and hormone receptors in a region called the prefrontal cortex when compared with non-fathers.
- Fighting Lyme Disease
A specific type of immune cell can attack the bacteria that cause Lyme disease.
- Genetic Susceptibility To Age-Related Macular Degeneration
The genetic factors influencing susceptibility to a degenerative eye disorder are explored.
- Patient-Specific Cancer Treatment
Scientists have discovered a way to cause some cancerous cells to self-destruct.
- New Compounds Give Voice To Silenced Neural DNA
A potential therapy for Friedreich's ataxia, a neurodegenerative disease that is caused by gene activation, is described.
- Understanding Leukaemia
Important insights into the process underlying two kinds of leukaemias associated with the CALM-AF10 translocation are reported.

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