Search
Search Results
-
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais
BackgroundPeople with autosomal recessive disorders often were born without awareness of the carrier status of their parents. The American College of...
-
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population
Carrier screening is important to people have a higher prevalence of severe recessive or X-linked genetic conditions. This study is aimed that the...
-
Carrier-Mediated Transport
The sensitivity of modern voltage-clamp techniques allows detection of carrier-mediated transport provided that a large membrane surface is...
-
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders
BackgroundFounder populations that have recently undergone important genetic bottlenecks such as French-Canadians and Ashkenazi Jews can harbor some...
-
Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China
Fragile X syndrome is the most common inherited cause of intellectual disability. Considering China’s low prevalence, distinct healthcare system,...
-
Enhancing Solubility and Dissolution Behavior of Finasteride Using Solid Dispersion Technique by Carrier Screening and the New Preparation Instrument
PurposeThe purpose of this study was to improve the solubility and dissolution rate of finasteride (FIN) by searching for an optimal carrier to...
-
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
Reproductive genetic carrier screening (RGCS) aims to provide couples with information to make informed decisions. Since 2013, the Israeli Carrier...
-
Bioavailability Enhancement of Poorly Aqueous Soluble Atorvastatin Calcium by Solid Dispersion Technique Using a Modified Natural Polymer as a Hydrophilic Carrier
PurposeThe goal of this study was to improve the solubility and bioavailability of poorly water-soluble atorvastatin calcium (ATC) by solid...
-
Optimizing Solid Tumor Treatment with Antibody–drug Conjugates Using Agent-Based Modeling: Considering the Role of a Carrier Dose and Payload Class
IntroductionAntibody–drug conjugates (ADCs) show significant clinical efficacy in the treatment of solid tumors, but a major limitation to their...
-
Scaling-up and future sustainability of a national reproductive genetic carrier screening program
An understanding of factors influencing implementation is essential to realise the benefits of population-based reproductive genetic carrier...
-
Societal implications of expanded universal carrier screening: a sco** review
Carrier screening aims to identify couples at risk of conceiving children with a recessive condition. Until recently, carrier screening was primarily...
-
A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders
Single gene disorders are individually rare but collectively common leading causes of neonatal and pediatric morbidity and mortality. Both parents or...
-
Preparation and Evaluation of Siderol Amorphous Solid Dispersions: Selection of Suitable Matrix/Carrier
The present study investigates the preparation of amorphous solid dispersions (ASD) for the ent-kaurane diterpenoid siderol (SDR). Initially,...
-
Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review
Reproductive genetic carrier screening (RGCS) for hundreds of different genetic conditions is technically available for prospective parents, but...
-
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese
Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier...
-
Benefits and concerns of expanded carrier screening: what do pregnant Latina women in Texas think?
The American College of Medical Genetics and Genomics (ACMG) recommends carrier screening for all pregnant women regardless of race or ethnicity. In...
-
Cell-based carrier for targeted hitchhiking delivery
Drug delivery systems aim at improving drug transport efficiency and therapeutic efficacy by rational design, and current research on conventional...
-
The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases
Expanded carrier screening (ECS) based on next-generation sequencing has been the subject of few studies to estimate the effectiveness of ECS in the...
-
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders
The magnitude of clinical utility of preconception expanded carrier screening (ECS) concerning its potential to reduce the risk of affected offspring...
-
Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium
Reproductive genetic carrier screening (RGCS) allows for the identification of couples who have an increased likelihood of conceiving a child with a...