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Submitted by rseal on Fri, 2012-09-14 08:59

 Genes influence face shape

  A study has recently associated five genes with different face shapes: PRDM16, PAX3, TP63, C5orf50, and COL17A1, see www.bbc.co.uk/news/science-environment-19566022.

 


 

Submitted by rseal on Mon, 2012-08-06 08:50

DCN is linked to prostate cancer

A recent study found that prostate tumour cells have lower levels of DCN (decorin) than normal prostate cells. Scientists hope that measuring levels of decorin may provide a diagnostic test for prostate cancer in the future. For more on this story, see www.bbc.co.uk/news/uk-scotland-edinburgh-east-fife-19121402.

 


 

 

TNFRSF1A variant explains failed multiple sclerosis drug

 A study has recently shown why anti-TNF drugs, which help treat autoimmune conditions such as rheumatoid arthritis, exacerbate multiple sclerosis.  Researchers found that a variant of the TNFRSF1A gene previously associated with increased risk of developing multiple sclerosis encodes a shorter form of the TNFRSF1A protein. This shortened protein blocks TNF signalling, thereby having the same effect as the anti-TNF drugs.  For more on this story, see www.bbc.co.uk/news/health-18738785.

 


 

Submitted by rseal on Fri, 2012-07-06 12:27

GNL3 is associated with osteoarthritis

A recent study has found that a polymorphism in the GNL3 gene is associated with osteoarthritis.  This work is an important step in understanding the risk factors involved in this common disease.  Further research is needed to characterise the function of the gene and the role of the variant in the pathogenesis of osteoarthritis.  For more on this story, see www.bbc.co.uk/news/health-18676893.

 


 

Submitted by rseal on Fri, 2012-05-25 10:03

KATNAL1 has a role in spermiogenesis

A study in mice has shown that the KATNAL1 ortholog is needed for the final stages of sperm development.  The finding has lead to hopes that the gene could be a target for future reversible male contraceptives.  For more on this story, see www.bbc.co.uk/news/health-18190352.

 


 

A SRGAP2 paralog has been linked to human brain development

A human-specific paralog of SRGAP2 may have influenced human brain development.  SRGAP2C is a duplication of SRGAP2 that encodes a shorter protein compared to SRGAP2; the SRGAP2C protein can bind to SRGAP and inhibit its function.  This results in an increase of neuron migration and the production of more dendritic spines.   For more on this story, see the-scientist.com/2012/05/07/doubled-gene-boosted-brain-power/.

 


 

ATM methylation status may help predict breast cancer cases

A recent study has found that women with high methylation levels of the ATM gene in white blood cells are far more likely to develop breast cancer than women with low methylation levels at the locus.  Researchers hope that the finding could lead to screening tests in the future to help identify those at risk of the disease.  For more on this story, see www.bbc.co.uk/news/health-17905601.

 


 

Submitted by rseal on Mon, 2012-03-26 14:41

IFITM3 is linked to influenza virus susceptibility

The IFITM3 gene has been shown to be important for host defences against viruses.  Researchers found that Ifitm3 knockout mice show an increase in serious symptoms when challenged with flu virus.  Sequencing of the IFITM3 gene from patients in hospital due to flu infection showed that a statistically significant number carried a flawed IFITM3 variant.  For more on this story, see www.bbc.co.uk/news/health-17474197.

 


 

Submitted by rseal on Mon, 2012-02-20 15:48

Circadian control of TLR9 activity affects immune response

Researchers have found that the activity of TLR9, which has a role in pathogen recognition, varies throughout the day, following a set pattern controlled by the body clock.  Mice immunised at the time of day where TLR9 activity is at its peak showed a greater immune response to the vaccine.  Additionally, mouse survival rates from induced sepsis differed depending on the time of day that sepsis was induced.  Researchers state that this has important implications for drug and vaccine administration to humans.  For more on this story, please read www.bbc.co.uk/news/health-17059498.

 


 

Further success with RPE65 gene therapy

Three patients with Leber's Congenital Amaurosis (LCA) that received gene therapy to introduce functional copies of the RPE65 gene in a second eye have reported inprovements in their vision.  The patients had received gene therapy in one eye back in 2008 and follow-up treatment to the second eye has proved safe and successful.  For more on this story, see www.bbc.co.uk/news/health-16942795.

 


Submitted by rseal on Tue, 2012-02-28 10:14

Rare Disease Day

This year 29th February is the fifth international Rare Disease Day.  The theme of the event this year is "solidarity" with a focus on research and clinical collaboration, and support for patients and families.  For more information about the day, please visit http://www.rarediseaseday.org

 


 

A variant of the CYP27B1 gene is linked to multiple sclerosis

A recent study found that individuals carrying rare variant copies of the CYP27B1 gene have a much greater risk of developing multiple sclerosis. This provides support for theories that vitamin D levels may be linked to incidence of multiple sclerosis; the CYP27B1 product is involved in processing vitamin D into its active form.  For more details, see http://www.bbc.co.uk/news/health-16086004

 


 

Blocking the HCN2 gene product may relieve chronic pain

Researchers have uncovered a new source of hope for people suffering from chronic neuropathic pain.  Deleting the ortholog of the human HCN2 gene in mice stopped neuropathic pain but did not affect acute pain.  Researchers are now hoping that drugs can be developed that will block the HCN2 protein and suppress chronic pain, without affecting other pain mechanisms. For more details, see http://www.bbc.co.uk/news/health-14837879.


Submitted by rseal on Wed, 2011-08-10 09:05

The SMARCAD1 gene has been implicated in the development of fingerprints

A study on a Swiss family with a rare condition called adermatoglyphia, which results in a lack of epidermal ridges including fingerprints, has shown that these patients carry a mutation in the SMARCAD1 gene.  The mutation affects the short isoform of the protein that is expressed in skin.  The role of the gene in skin ridge development is not yet known.  For more on this story, see http://www.bbc.co.uk/news/health-14401126.


Submitted by rseal on Mon, 2011-10-10 10:19

HGNC at ASHG/ICHG 2011

HGNC are attending ASHG/ICHG 2011 in Montreal this week.  If you are at the conference, please visit us at poster 816T on Thursday between 3-4pm, or at booth 217 between 1.30-2pm on Wednesday, Thursday or Friday.  We look forward to meeting you!


Submitted by rseal on Fri, 2011-07-29 08:55

Men carrying a DEFB126 variant have reduced levels of fertility

A recent study has shown that men carrying a particular variant of the DEFB126 gene have low rates of fertility. The DEFB126 gene product is expressed on the sperm surface has previously been associated with movement of sperm through the female reproductive tract. It is thought that the sperm of men carrying the variant are less effective at moving through mucus, although carriers are not completely infertile.  For more on this story see http://www.bbc.co.uk/news/health-14219907


 

Targeted therapy of BRAF is an effective melanoma treatment

A new drug has been developed that extends the life of melanoma patients.  Previous studies have shown that the BRAF gene is frequently mutated in melanoma.  The drug, Vemurafenib, inhibits BRAF activity. For more details, see http://www.bbc.co.uk/news/uk-13664452.


Submitted by rseal on Wed, 2011-06-22 11:10

CRY2 can function as a magnetosensor

Although there is no conclusive evidence that humans are able to sense magnetic fields, a recent study has shown that the CRY2 protein can act as a magnetosensor.  cry–deficient fruit flies are unable to align themselves to magnetic fields, but transgenic cry–deficient flies that express human CRY2 regain their magnetosensitivity.  For more on this story, see http://www.bbc.co.uk/news/science-environment-13809144.


Submitted by rseal on Fri, 2010-11-05 14:51

ROBO1 is linked to language development

The ROBO1 gene has recently been linked to the development of speech in infants. A recent study found that ROBO1 has a role in enabling infants to store speech sounds and translate these sounds into language.  For more on this story, see http://www.bbc.co.uk/news/uk-scotland-edinburgh-east-fife-12403925.


Submitted by rseal on Thu, 2011-03-10 15:52

DICER1 is linked to a common visual disorder

A new study has shown that loss of DICER1 activity is a cause of macular degeneration.  The reduced enzyme activity leads to a build up of toxic Alu RNA molecules which results in the destruction of the retina.  For more details, see http://www.bbc.co.uk/news/health-12365070


New genenames.org website

Welcome to the new look and feel genenames.org website!  We have made navigation of our site more intuitive by using the same banner and dropdown menus on every page, meaning that you can access gene family pages, search tools or documentation from any page.  The banner also features our Quick Gene Search and an orange "Request Symbol" button.  We have limited the use of colour on the site to create a more consistent feel across gene Symbol Reports, search tools and search results pages.

The new homepage includes the Quick Gene Search, an updated FAQ section and a ‘News’ section.  Here we will report on important updates to the HGNC project and include a few links to gene symbols that have featured in the international media.  We also have a new feature: ‘Browse approved symbol by chromosome’.  Clicking on a particular chromosome graphic will take you to a statistics page where you can download the total number of approved symbols for that chromosome or browse symbols according to locus type e.g. you can quickly see the number of approved symbols for protein-coding genes vs. pseudogenes on chromosome 1.

The Symbol Report has also been redesigned to group related information together.  We have placed our core HGNC-curated data at the top of the page in an orange box and have arranged links to related data by broad category e.g. nucleotide resources, gene resources, clinical resources and protein resources. 

We hope that you will find these improvements useful and look forward to receiving your feedback.

 

ATM methylation status may help predict breast cancer cases