Hibaaq jama biography of christopher

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  • Global study 1325
  • Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol transport out of the endolysosomal.
  • Hope open new facility in Southampton

    Local MP welcomes £ million investment in the city for improved supply to region’s building projects

    ALAN Whitehead MP has welcomed investment of more than £ million in Southampton with the opening of a new rail-fed aggregates and concrete depot by Hope Construction Materials.

    Accompanied by Hope Construction Materials’ chief executive officer, Chris Plant, the MP for Southampton Test carried out the official opening of the Imperial Road site, which sees the company step up its supply of ready-mixed concrete and limestone to construction projects across city.

    The opening ceremony on Friday 6 May also offered local school children a chance to get closer to the world of construction. Linking with nearby Mount Pleasant Junior School, Hope ran a competition to name the tonne loading shovel used at the site. A group of children from the school attended the opening to learn about what happens at the new plant and to hear who had won the naming c

    Abstract

    Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol frakt out of the endolysosomal compartment.. Marked heterogeneity has been observed in individuals with the same NPC1 genotype, thus suggesting a significant effect of modifier genes. Prior work demonstrated that decreased SOAT1 activity decreased disease severity in an NPC1 mouse model. Thus, we hypothesized that a polymorphism associated with decreased SOAT1 expression might influence the NPC1 phenotype. Phenotyping and genomic sequencing of individuals with NPC1 was performed as part of a Natural History trial. Phenotyping included determination of disease severity and disease burden. Significant clinical heterogeneity fryst vatten present in individuals homozygous for the NPC1IT variant and in siblings. Analysis of the SOAT1 polymorphism, rs (A>C), showed a significant association of the C-allele with earlier age of neurological onset. The C-allele may be associat

    Rare Genetic Disorders of Cholesterol Homeostasis and Lysosomal Diseases

    • Forbes D. Porter, MD, PhD,Head, Section on Molecular Dysmorphology
    • Niamh Cawley, PhD, Staff Scientist
    • Cristin Davidson, PhD, Staff Scientist
    • Derek Alexander, MPH, Protocol Coordinator
    • Desiree Labor, MSN, Research Nurse Practitioner
    • Sarita Kumari, PhD, Visiting Fellow
    • Shikha Salhotra, PhD, Visiting Fellow
    • Khushboo Singhal, PhD, Visiting Fellow
    • Carolina Alvarez, BA, Postbaccalaureate Intramural Research Training Award Fellow
    • Katerina Melnyk, BA, Postbaccalaureate Intramural Research Training Award Fellow
    • Hibaaq Mohamed, BA, Postbaccalaureate Intramural Research Training Award Fellow
    • Avani Mylvara, BA, Postbaccalaureate Intramural Research Training Award Fellow
    • Aishwarya Selvaraman, BA, Postbaccalaureate Intramural Research Training Award Fellow
    • Christian White, BA, Postbaccalaureate Intramural Research Training Award Fellow
    • Emelin Hernandez, Animal Technician
    • Simon
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