Loss of function mutations Sample Clauses

Loss of function mutations of DJ-1 linked to PD The association of DJ-1 with PD became apparent when it was discovered as the PARK7 gene and mutations in DJ-1 caused autosomal recessive early onset PD (32). The first mutation reported was a large deletion including promoter regions and coding sequences, essentially resulted in no DJ-1 protein. Afterwards, several point mutations have been described, including homozygous mutations of L166P (32), M26I (2) , E64D (139), and E163K (15), as well as some heterozygous mutations (Table I-2). Only L10, A104, P158, and L166 are conserved among all species from C.elegans to Homo sapiens, other residues mutated in PD patients are not well conserved (Fig.I-1A). All the point mutations found in familial form of PD are also illustrated in 3-dimensional DJ-1 structure (Fig.I-1B). Although PD caused by DJ-1 mutations is rare [15], the study of the pathological consequences of DJ-1 deficiency has provided insights into the molecular mechanisms of oxidative stress-related neurodegeneration.
Sample 1
AutoNDA by SimpleDocs

Related to Loss of function mutations

  • DELEGATION OF FUNCTIONS 5.1 The functions that must be delegated by the Health Board to the Integration Joint Board are set out in Part 1 of Annex 1. The services to which these functions relate, which are currently provided by the Health Board and which are to be integrated, are set out in Part 2 of Annex 1.

  • ESSENTIAL FUNCTIONS  Performs all nursing duties in accordance with the state Nursing Act specific to the state you are working in, while adhering to all facility policies and procedures.  Assists the physician with procedures and treatments. Administers treatments including sterile procedures.  Is able to recognize significant changes in the condition of residents and take necessary action. Having working knowledge of all residents under his/her care.  Collaborates with other health care providers and provides education to patients and/or significant others (while in compliance with HIPAA).  Is responsible during the shift for the total nursing care of residents in his/her assigned unit, which includes lifting, transferring and supporting residents who weigh 50 pounds or more.  Proficient in oral and written communication skills  Abides by policies of facility and ascertain that employees under her supervision do the same.  Ensures that all personnel who work under his/her direction observe the rules of Universal Precautions and the Blood Borne Pathogen rules.

  • Primary Function (a) The primary function of the troubleshooter shall be to address concerns of bargaining unit employees who seek a determination of their employment status (an employee of regular status or an employee of auxiliary status) pursuant to the terms of this Collective Agreement.

  • Mixed Functions An employee engaged for more than two hours during one day or shift on duties carrying a higher rate than his or her ordinary classification shall be paid the higher rate for such day or shift. If for two hours or less during one day or shift he or she shall be paid the higher rate for the time so worked.

  • Contractor Certification regarding Business with Certain Countries and Organizations Pursuant to Subchapter F, Chapter 2252, Texas Government Code], Contractor certifies Contractor is not engaged in business with Iran, Sudan, or a foreign terrorist organization. Contractor acknowledges this Agreement may be terminated and payment withheld if this certification is inaccurate.

  • Administrative Functions Include any or a combination of: liaising with other departments on work flows and other matters; participating in interdepartmental meetings; coordinating transactions with external agencies on behalf of department; formulating and updating departmental procedures; recommending changes to Administration; compiling statistical reports on departmental activity. Administrative Levels Duties First level: As listed above. Second level: Participates in development and monitoring of departmental budget.

  • MANAGEMENT FUNCTIONS B-1 The Association recognizes that the management of the Hospital and the direction of the working forces are fixed exclusively in the Hospital and shall remain solely with the Hospital except as specifically limited by the provisions of this Agreement, and without restricting the generality of the foregoing, the Association acknowledges that it is the exclusive function of the Hospital to:

  • Operations Support Systems Functions CBT shall provide CLEC, upon CLEC's request, nondiscriminatory access to CBT's Operations Support Systems functions for pre-ordering, ordering, provisioning, maintenance and repair and billing, in accordance with the terms and schedules established in the Commission’s Arbitration Award in Case No. 97-152-TP-ARB, August 14, 1997 (“Arbitration Award”). CBT shall provide CLEC advance written notice of any material changes to CBT operating support systems functions.

  • Transfer of Function Where the Employer has agreed to a transfer of function, it will be the responsibility of the Employer to provide in-service programs/training to all nurses required to perform the function. Employees required to attend such programs will be paid at the applicable rate of pay.

  • GOVERNMENTAL FUNCTIONS 1. Remuneration, including pensions, paid by, or out of funds created by, one of the States or a political subdivision or a local authority thereof to any individual in respect of services rendered to that State or subdivision or local authority thereof in the discharge of functions of a governmental nature may be taxed in that State.

Time is Money Join Law Insider Premium to draft better contracts faster.