Incomplete penetrance and variable expressivity: from clinical studies to population cohorts

R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Human genetic susceptibility to infectious disease

SJ Chapman, AVS Hill - Nature Reviews Genetics, 2012 - nature.com
Recent genome-wide studies have reported novel associations between common
polymorphisms and susceptibility to many major infectious diseases in humans. In parallel …

Translation of 5′ leaders is pervasive in genes resistant to eIF2 repression

DE Andreev, PBF O'Connor, C Fahey, EM Kenny… - elife, 2015 - elifesciences.org
Eukaryotic cells rapidly reduce protein synthesis in response to various stress conditions.
This can be achieved by the phosphorylation-mediated inactivation of a key translation …

Single-cell analyses reveal megakaryocyte-biased hematopoiesis in myelofibrosis and identify mutant clone-specific targets

B Psaila, G Wang, A Rodriguez-Meira, R Li… - Molecular cell, 2020 - cell.com
Myelofibrosis is a severe myeloproliferative neoplasm characterized by increased numbers
of abnormal bone marrow megakaryocytes that induce fibrosis, destroying the hematopoietic …

[HTML][HTML] Innate immunity in cystic fibrosis lung disease

D Hartl, A Gaggar, E Bruscia, A Hector, V Marcos… - Journal of Cystic …, 2012 - Elsevier
Chronic lung disease determines the morbidity and mortality of cystic fibrosis (CF) patients.
The pulmonary immune response in CF is characterized by an early and non-resolving …

Modifier genes in Mendelian disorders: the example of cystic fibrosis

GR Cutting - Annals of the New York Academy of Sciences, 2010 - Wiley Online Library
In the past three decades, scientists have had immense success in identifying genes and
their variants that contribute to an array of diseases. While the identification of such genetic …

Mouse models of cystic fibrosis: phenotypic analysis and research applications

M Wilke, RM Buijs-Offerman, J Aarbiou… - Journal of Cystic …, 2011 - Elsevier
Genetically modified mice have been studied for more than fifteen years as models of cystic
fibrosis (CF). The large amount of experimental data generated illuminates the complex …

Traditional Chinese medicine for pulmonary fibrosis therapy: Progress and future prospects

LC Li, LD Kan - Journal of ethnopharmacology, 2017 - Elsevier
Ethnopharmacological relevance Pulmonary fibrosis (PF) is a chronic, debilitating and often
lethal lung disorder. Despite the molecular mechanisms of PF are gradually clear with …

Cohort profile: the Isle of Wight whole population birth cohort (IOWBC)

SH Arshad, JW Holloway, W Karmaus… - International journal …, 2018 - academic.oup.com
By the late 1980s, it was clear that allergic diseases, including asthma, eczema, allergic
rhinitis and food allergy, had been increasing in recent decades, but the extent of this …

[HTML][HTML] Modeling human disease in humans: the ciliopathies

G Novarino, N Akizu, JG Gleeson - Cell, 2011 - cell.com
Soon, the genetic basis of most human Mendelian diseases will be solved. The next
challenge will be to leverage this information to uncover basic mechanisms of disease and …