African genetic diversity and adaptation inform a precision medicine agenda
The deep evolutionary history of African populations, since the emergence of modern
humans more than 300,000 years ago, has resulted in high genetic diversity and …
humans more than 300,000 years ago, has resulted in high genetic diversity and …
The nephropathy of sickle cell trait and sickle cell disease
KI Ataga, SL Saraf, VK Derebail - Nature Reviews Nephrology, 2022 - nature.com
Sickle cell syndromes, including sickle cell disease (SCD) and sickle cell trait, are
associated with multiple kidney abnormalities. Young patients with SCD have elevated …
associated with multiple kidney abnormalities. Young patients with SCD have elevated …
Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants
O Egbuna, B Zimmerman, G Manos… - … England Journal of …, 2023 - Mass Medical Soc
Background Persons with toxic gain-of-function variants in the gene encoding
apolipoprotein L1 (APOL1) are at greater risk for the development of rapidly progressive …
apolipoprotein L1 (APOL1) are at greater risk for the development of rapidly progressive …
American Society of Hematology 2019 guidelines for sickle cell disease: cardiopulmonary and kidney disease
Background: Prevention and management of end-organ disease represent major
challenges facing providers of children and adults with sickle cell disease (SCD) …
challenges facing providers of children and adults with sickle cell disease (SCD) …
Genetic variation and sickle cell disease severity: a systematic review and meta-analysis
Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …
Kidney disease and APOL1
AA Yusuf, MA Govender… - Human Molecular …, 2021 - academic.oup.com
Globally, chronic kidney disease (CKD) represents an important non-communicable disease
with significant morbidity and mortality. An estimated 10% of the world's population had CKD …
with significant morbidity and mortality. An estimated 10% of the world's population had CKD …
Progression of albuminuria in patients with sickle cell anemia: a multicenter, longitudinal study
Sickle cell nephropathy results in chronic kidney disease (CKD), which is associated with
significant morbidity and mortality in sickle cell anemia (SCA). Albuminuria is an early …
significant morbidity and mortality in sickle cell anemia (SCA). Albuminuria is an early …
[PDF][PDF] Genetic modifiers of sickle cell disease
T Pincez, AE Ashley-Koch, G Lettre, MJ Telen - … /Oncology Clinics of North …, 2022 - Elsevier
Studies of genetic variants and their associations with disease outcomes using recent
molecular technology advances and the broad variety of statistical methodologies available …
molecular technology advances and the broad variety of statistical methodologies available …
[HTML][HTML] Chronic organ injuries in children with sickle cell disease
Median life expectancy of patients with sickle cell disease has increased to up to 55 years
but there are still frequent cases of premature death, mostly in patients with pre-existing …
but there are still frequent cases of premature death, mostly in patients with pre-existing …
Management of the sickle cell trait: an opinion by expert panel members
VM Pinto, L De Franceschi, B Gianesin… - Journal of Clinical …, 2023 - mdpi.com
The number of individuals with the sickle cell trait exceeds 300 million worldwide, making
sickle cell disease one of the most common monogenetic diseases globally. Because of the …
sickle cell disease one of the most common monogenetic diseases globally. Because of the …