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-A Means to the Ends: Telomerase RNA Restores Telomere Length in Dyskeratosis Congenita
Telomerase RNA levels are involved in telomere shortening in X-linked dyskeratosis congenita
-Antipsychotic Medications Same As Placebo For Alzheimer’s Patients
First phase of a large-scale clinical trial demonstrates that while some Alzheimer's Patients can benefit from antipsychotic medications, most do not.
-Misfolded Protein Clumps Common in Lou Gehrig’s Disease
Researchers discover misfolded protein TDP-43 as a constituent part of the clumps that form in dementia providing new insights into the pathogenesis of neurological disorders.
-A Gene Mutation May Control Sensitivity to Alcohol
Fruit fly study identifies mutation in white rabbit gene that regulates sensitivity to alcohol.
-Ragweed Allergy Sufferers Can Benefit From Experimental Therapy
An experimental ragweed allergen immunotherapy shortens the time required to treat symptoms.
-A Link Between Cyclic Nucleotide Metabolism And Depression
Genetic variants of phosphodiesterase 11 are associated with the diagnosis of depression and with patient responsiveness to antidepressant therapy.
2006-10-13
-Detecting Disease-Causing Mutations in the Human Genome by Haplotype Matching
The authors describe a new strategy for detecting mutations that is based on comparing affected haplotypes with closely matched control sequences from healthy individuals, rather than with the human reference genome.
-PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy
The study findings highlight a role of phospholipase in neurodegenerative disorders.
-A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome
Abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.
-Systems Biology Tackles The Mechanisms Of Cancer
Potential novel targets for anti-cancer therapy are revealed.
-Itching And Scratching
Dust mites produce an allergen that disrupts the skin's ability to act as a barrier to other allergens and environmental irritants.
-Recommendations Help Identify Patients Suitable For NSAID Treatment
Recommendations should help physicians to identify quickly whether or not a patient is suitable for treatment with nonsteroidal anti-inflammatory drugs (NSAIDs).
-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, is presented.
-New Strategy For Controlling Inflammation
A previously unknown method of terminating immune responses is reported.
-New Breast Cancer Susceptibility Gene Identified
Women with mutations in a gene called BRIP1 have twice the normal risk of breast cancer.
-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.
2006-10-02
-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

2006-10-13
-Detecting Disease-Causing Mutations in the Human Genome by Haplotype Matching
The authors describe a new strategy for detecting mutations that is based on comparing affected haplotypes with closely matched control sequences from healthy individuals, rather than with the human reference genome.
-PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy
The study findings highlight a role of phospholipase in neurodegenerative disorders.
-A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome
Abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.
-Systems Biology Tackles The Mechanisms Of Cancer
Potential novel targets for anti-cancer therapy are revealed.
-Itching And Scratching
Dust mites produce an allergen that disrupts the skin's ability to act as a barrier to other allergens and environmental irritants.
-Recommendations Help Identify Patients Suitable For NSAID Treatment
Recommendations should help physicians to identify quickly whether or not a patient is suitable for treatment with nonsteroidal anti-inflammatory drugs (NSAIDs).
-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, is presented.
-New Strategy For Controlling Inflammation
A previously unknown method of terminating immune responses is reported.
-New Breast Cancer Susceptibility Gene Identified
Women with mutations in a gene called BRIP1 have twice the normal risk of breast cancer.
-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.
2006-10-02
-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
 
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© 2007 Electronic Journal of  Medical Genetics (EJMG)
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