Hibaaq jama biography of christopher
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Abstract
Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol transport 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 is 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
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Rare Genetic Disorders of kolesterol 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, miles per hour, Protocol Coordinator
- Desiree Labor, MSN, Research sjukskรถterska 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 vit, BA, Postbaccalaureate Intramural Research Training Award Fellow
- Emelin Hernandez, Animal Technician
- Simon
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Somali people
Cushitic ethnic group native to the Horn of Africa
This article is about the Somali ethnic group. For the general population of the Federal Republic of Somalia, see Demographics of Somalia. For other uses, see Somali (disambiguation).
Ethnic group
Soomaalida
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ุตูู ุงููุฏูTraditional area inhabited by the Somali ethnic group
million[1] Horn of Africa &#;Somalia[a] 18,, ()[2][3] &#;Ethiopia 4,, ()[4] &#;Kenya 2,, ()[5] &#;Djibouti , ()[6] &#;Yemen , ()[7] &#;United Kingdom , ()[8] &#;United States , ()[9] &#;Libya , ()[10] &#;United Arab Emirates ,[11] &#;Sweden 68,[12] &#;Tanzania 66,[citation needed] &#;Canada 65,[13] &#;Germany 60,[14] &#;Uganda 51,[15] &#;Saudi Arabia 45,[16] &#;Norway