Publications by authors named "Emily Coelho"

Mutations in the phosphatidylinositol glycan biosynthesis class A (PIGA) gene cause a rare, X-linked recessive congenital disorder of glycosylation. Phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) is characterized by seizures, intellectual and developmental delay, and congenital malformations. The PIGA gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI) anchor biosynthesis.

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Mutations in the phosphatidylinositol glycan biosynthesis class A (PIGA) gene cause a rare, X-linked recessive congenital disorder of glycosylation (CDG). PIGA-CDG is characterized by seizures, intellectual and developmental delay, and congenital malformations. The gene encodes an enzyme involved in the first step of GPI anchor biosynthesis.

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Context: A genetic etiology accounts for the majority of unexplained primary ovarian insufficiency (POI).

Objective: We hypothesized a genetic cause of POI for a sister pair with primary amenorrhea.

Design: The study was an observational study.

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Following recognition that blood, blood components, tissues and organs donated by infected donors could transmit infectious prions causing variant Creutzfeldt-Jakob Disease (vCJD), several risk reduction measures were introduced in the UK. The Advisory Committee on the Safety of Blood, Tissues and Organs (SaBTO) established a working group to review the measures in place. Factors considered included: ethical issues around the current provisions and potential changes; operational issues for blood establishments and hospitals; a review from the Advisory Committee on Dangerous Pathogens (ACDP) showing the downward trend in the estimated number of future cases of vCJD; and cost-effectiveness.

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Context: A genetic etiology likely accounts for the majority of unexplained primary ovarian insufficiency (POI).

Objective: We hypothesized that heterozygous rare variants and variants in enhanced categories are associated with POI.

Design: The study was an observational study.

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N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variability observed among patients, we crossed a model of NGLY1 deficiency onto a panel of genetically diverse strains.

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