News tagged with american journal of human genetics
Related topics: genes , mutations , genetic variation , chromosomes , genome
Gypsy study unravels a novel ataxia gene
A WA study of an isolated population of Eastern European Gypsies known as "Bowlmakers" has unlocked clues about a serious developmental disease - congenital cerebellar ataxia.
Genetics
Aug 17, 2012 |
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Marin County's high breast cancer rate may be tied to genetics
(Medical Xpress) -- Marin County, California has one of the highest rates of breast cancer in the world, a fact that scientists know has nothing to do with the land itself but with some other, unknown factor.
Genetics
Aug 08, 2012 |
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Genetic copy-number variants and cancer risk
Genetics clearly plays a role in cancer development and progression, but the reason that a certain mutation leads to one cancer and not another is less clear. Furthermore, no links have been found between any cancer and a ...
Genetics
Aug 02, 2012 |
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Researchers find genetic cause for body tremors
Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming ...
Genetics
Aug 02, 2012 |
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Researchers find new gene mutation associated with congenital myopathy
University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American Journal of Human Genetics.
Genetics
Jul 25, 2012 |
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Scientists identify gene linked to facial, skull and cognitive impairment
A gene whose mutation results in malformed faces and skulls as well as mental retardation has been found by scientists.
Genetics
Jul 05, 2012 |
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Study explains functional links between autism and genes
A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 ...
Genetics
Jun 21, 2012 |
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Finding genetic proof of coronary artery disease risk
University of Minnesota School of Public Health researchers have reported two high-signal genetic markers correlated with coronary artery disease (CAD) that should help define genetic fingerprints that can signal an increased ...
Genetics
Jun 15, 2012 |
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Mutations impair childhood growth and development by disrupting organization of chromosome pairs
Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins ...
Genetics
May 29, 2012 |
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Male fertility genes discovered
A new study has revealed previously undiscovered genetic variants that influence fertility in men. The findings, published by Cell Press on May 24th in the American Journal of Human Genetics, shed much-needed light on hum ...
Genetics
May 24, 2012 |
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Discovery of a gene that causes Joubert Syndrome
C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in ...
Genetics
May 10, 2012 |
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New form of intellectual disability discovered
Researchers at the Centre for Addiction and Mental Health (CAMH) led a study discovering a gene for a new form of intellectual disability, as well as how it likely affects cognitive development by disrupting neuron functioning.
Genetics
Apr 27, 2012 |
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First gene linked to common form of psoriasis identified
Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition.
Genetics
Apr 19, 2012 |
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Genetic adaptation of fat metabolism key to development of human brain
About 300 000 years ago humans adapted genetically to be able to produce larger amounts of Omega-3 and Omega-6 fatty acids. This adaptation may have been crucial to the development of the unique brain capacity in modern humans. ...
Genetics
Apr 12, 2012 |
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A new breast cancer susceptibility gene
Mutations in a gene called XRCC2 cause increased breast cancer risk, according to a study published today in the American Journal of Human Genetics. The study looked at families that have a history of the disease but do not ...
Genetics
Mar 29, 2012 |
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