The MYO7A gene provides instructions for making a protein called myosin VIIA, which is part of a group of proteins called unconventional myosins. These proteins, which have similar structures, help transport molecules within cells. Myosins interact with actin, a protein that is important for cell movement and shape. Researchers believe that myosins use long filaments of actin as tracks along which to transport other molecules.
Normal Function
Myosin VIIA is made in the inner ear and in the retina, which is the light-sensitive tissue at the back of the eye. In the inner ear, myosin VIIA plays a role in the development and maintenance of hairlike projections called stereocilia. Stereocilia, which are rich in actin, line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, which are then transmitted to the brain. Stereocilia are also elements of the vestibular system, the part of the inner ear that helps maintain the body's balance and orientation in space. Bending of these stereocilia is needed to transmit signals from the vestibular system to the brain.
In the retina, myosin VIIA is found primarily in a thin layer of cells called the retinal pigment epithelium (RPE). Myosin VIIA probably plays a role in the development and maintenance of this tissue, which supports and nourishes the retina. Research suggests that one function of myosin VIIA is to carry small sacs of pigment (called melanosomes) within the RPE. This pigment is necessary for normal vision. Myosin VIIA is also found in other parts of the retina, where it likely carries additional proteins and molecules that are important for vision.
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Health Conditions Related to Genetic ChangesNonsyndromic hearing loss
Researchers have identified several MYO7A gene mutations that can cause nonsyndromic hearing loss, which is loss of hearing that is not associated with other signs and symptoms. Mutations in this gene are thought to cause two forms of nonsyndromic hearing loss: DFNA11 and DFNB2.
DFNA11 is inherited in an autosomal dominant pattern, which means only one mutated copy of the MYO7A gene in each cell is sufficient to cause the condition. This form of hearing loss begins in childhood, after a child learns to speak (postlingual), and becomes more severe over time.
Most of the mutations that cause DFNA11 alter a single protein building block (amino acid) in myosin VIIA, resulting in an abnormal protein that does not work properly. Other genetic changes delete a small amount of DNA from critical regions of the MYO7A gene, which probably changes the structure of the protein. Researchers suspect that the altered protein causes hearing loss by disrupting the growth and organization of stereocilia in the inner ear.
DFNB2 is inherited in an autosomal recessive pattern, which means both copies of the MYO7A gene are mutated in each cell. The hearing loss can be postlingual or begin before a child learns to speak (prelingual). Some researchers have suggested that individuals with DFNB2 may actually have Usher syndrome (described below), because some individuals who were thought to have nonsyndromic hearing loss developed retinitis pigmentosa (a vision disorder characteristic of Usher syndrome) later in life. However, other individuals diagnosed with DFNB2 never develop retinitis pigmentosa, and recent studies indicate that DFNB2 and Usher syndrome probably result from different mutations in the MYO7A gene.
The mutations that cause DFNB2 alter the structure and function of myosin VIIA, but they probably do not eliminate the protein's function completely. Recent studies found that the protein likely retains enough function in the retina to allow for normal vision, but not enough function in the inner ear to permit normal hearing.
More About This Health Condition
Usher syndrome
More than 200 mutations in the MYO7A gene have been identified in people with Usher syndrome type I, which is characterized by a combination of hearing loss, vision loss, and problems with balance and coordination. Specifically, MYO7A gene mutations cause a form of the disorder known as Usher syndrome type IB (USH1B), which accounts for more than half of all cases of Usher syndrome type I.
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Many of these genetic changes alter a single protein building block (amino acid) in critical regions of the myosin VIIA protein. Other mutations introduce a premature stop signal in the instructions for making myosin VIIA. Still other mutations insert or delete small amounts of DNA in the MYO7A gene. All of these changes lead to the production of a nonfunctional version of myosin VIIA or prevent the production of any of this protein. A lack of myosin VIIA in the inner ear disrupts the normal development and function of stereocilia, which leads to hearing loss and difficulty with balance and coordination. A lack of myosin VIIA in the retina causes retinitis pigmentosa, a condition in which light-sensing cells of the retina gradually deteriorate, resulting in progressive vision loss.
More About This Health Condition
Age-related hearing loss
MedlinePlus Genetics provides information about Age-related hearing loss
More About This Health Condition
Other Names for This Gene
Additional Information & ResourcesTests Listed in the Genetic Testing Registry
Catalog of Genes and Diseases from OMIMReferences
£16,680 - £17,777 (Salary will depend on location)
CHESTER MAGISTRATES CHESTER, CH1 2XA, LIVERPOOL COMBINED LIVERPOOL, L2 1XA, WARRINGTON COMBINED WARRINGTON, WA1 1UR
Limit to 250 words per each behaviour answer
Managing a Quality Service is the lead behaviour
Background and key purpose of the role
Usher 1 1 15 Commentary
The Court Usher acts as an essential first point of contact for all the court users involved in hearings. There will be regular contact with the judiciary, assisting the administrative staff with the smooth flow of court work. You will meet members of the public and their legal representatives; prepare court /hearing rooms, and complete documentation, as well as ensuring the court runs smoothly and efficiently. You will also carry out some general clerical work as required to support the work of HMCTS.
Although many of the tasks are straightforward, regulated by well-established guidelines and/or detailed instructions, an Usher needs to be prepared to react quickly and professionally to situations, some of which may be unexpected. You will be comfortable in dealing sensitively and professionally with people from all walks of life; many of whom may be vulnerable and under stress. Advice and support is readily available and there is little discretion to depart from standard procedures, which may well require you to take a firm stance when those procedures are not understood or welcomed by a court user. Ushers work within a team with regular management support and are responsible for their own time.
Whilst initially you will be allocated to a specific court or office base, there will be a need for flexibility to work on an ad hoc basis at other courthouses and local HMCTS offices.
Key responsibilities may include:
Administration
Correspondence
Post Handling
Monitoring Stock
Data Entry and recording
Operating equipment
Handling telephone calls
Arranging meetings
Reception of parties to court
Other duties
The post holder is required to work in a flexible way and undertake any other duties reasonably requested by line management which are commensurate with the grade and level of responsibility of this post.
Skills & Qualifications
2 GCSE’s at Grade C or above, or equivalent qualifications OR have experience of working with the public in a busy public service environment. Ability to use a computer at the level required for the work.
Operational Delivery in HMCTS
This role is part of the Operational Delivery Profession. Operational delivery professionals are the outward face of government, providing essential services to the public in a variety of roles. They work in many different departments and agencies across the breadth of the UK, delivering service to customers in
Being part of the operational delivery profession means belonging to a cross-government community of people. This will offer you access to information on professional standards, skills development and qualifications to help you continue to improve your development and performance and expand your career options. Lame v3.99.3 for windows.exe audacity.
Civil Service Behaviours
Behaviours are the actions and activities that people do which result in effective performance in a job.
The Civil Service has defined a set of behaviours that, when demonstrated, are associated with job success. Civil Service Behaviours are specific to the grade level of the job role.
It is important to remember that recruiting managers will choose a selection of behaviours which are best suited to the specific job role. You will not be asked to demonstrate all Civil Service Behaviours for one role.
The examples of the behaviours are designed to give an overview of what is expected of individuals at each level. There is no expectation that all individuals will need to demonstrate every part of each example to be successful.
Seeing the Big Picture
Changing and Improving
Making Effective Decisions
Leadership
Communicating and Influencing
Working Together
Icon extractor. Developing Self and Others
Managing a Quality Service
Delivering at Pace
The Civil Service Behaviours you will be assessed on for this post will be
Usher 1 1 15 Esv
1. Managing a Quality Service (Lead competence)
2. Communicating and Influencing
3. Working Together
4. Making Effective Decisions
The jobholder must be able to fulfil all spoken aspects of the role with confidence in English or (when specified in Wales) Welsh.
Working Arrangements & Further Information
Some of MoJ’s terms and conditions of service are changing as part of Civil Service reform. The changes will apply to staff joining MoJ who are new to the Civil Service. Staff joining MoJ from other civil service employers will transfer onto the new MoJ terms if they are already on 'modernised' terms in their current post or onto 'unmodernised' MoJ terms if they are on 'unmodernised' terms at their current post. Details will be available if an offer is made.
Fuel for keynote 1 4 download free. Flexible working hours
The Ministry of Justice offers a flexible working system in many offices.
Benefits
The MoJ offers a range of benefits:
Annual Leave
Generous allowances for paid holiday starting at 25 days per year, and rising as your service increases. There is also a scheme to allow qualifying staff to buy or sell up to three days leave each year. Additional paid time off for public holidays and 1 privilege day. Leave for part-time and job share posts will be calculated on a pro-rata basis.
Pension
The Civil Service offers a choice of pension schemes, giving you the flexibility to choose the pension that suits you best.
Training
The Ministry of Justice is committed to staff development and offers an extensive range of training and development opportunities.
Support
Networks
The opportunity to join employee-run networks that have been established to provide advice and support and to enable the views of employees from minority groups to be expressed direct to senior management. There are currently networks for employees of minority ethnic origin, employees with disabilities, employees with caring responsibilities, women employees, and lesbian, gay, bisexual and transgender employees.
Working for the Civil Service
The Civil Service Code sets out the standards of behaviour expected of civil servants.
We recruit by merit on the basis of fair and open competition, as outlined in the Civil Service Commission's recruitment principles.
The Civil Service embraces diversity and promotes equality of opportunity.
There is a guaranteed interview scheme (GIS) for candidates with disabilities who meet the minimum selection criteria.
If you require any assistance please call 0845 241 5359 (Monday to Friday 8am - 6pm) or e mail [email protected] Please quote the job reference - 29434.
Please note the successful applicant will need to undertake a Disclosure and Barring Security Check for this post.
To apply for roles in MOJ you will need to confirm your employment history for at least 3 years prior to the date of application so that pre-employment checks (BPSS) can be undertaken. If you have spent significant time abroad (a total of 6 months in the past 3 years) you would be required to give a reasonable account of the reasons why.
For some roles you will be required to successfully complete National Security Vetting at Counter Terrorism (CTC), Security Clearance (SC) or Developed Vetting (DV) level as a condition of appointment. To meet CTC/SC/DV requirements you will normally need to have been resident in the UK for at least 3/5/10 years prior to the date of application (The level of checks that are required are stated in the advert).
If you do not meet the above requirements, you may still be considered if, for example:
In such cases you will need to be able to provide referee cover for the period(s) of residence overseas. The duration of overseas residence and the country of abode will also be taken into account.
Success Profiles will enable a fairer and more inclusive method of recruitment by enabling us to assess the range of experiences, abilities, strengths, behaviours and technical/professional skills required for different roles. This flexible approach to recruitment focuses more on finding the right candidate for the specific role. To find out more about Success Profiles to support your application please click here for further guidance.
if you feel that your application has not been treated in line with the Civil Service Recruitment Principles, please contact SSCL ([email protected]) in the first instance
This Vacancy is closed to applications.
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