[HTML][HTML] Biological functions of autophagy genes: a disease perspective
The lysosomal degradation pathway of autophagy plays a fundamental role in cellular,
tissue, and organismal homeostasis and is mediated by evolutionarily conserved autophagy …
tissue, and organismal homeostasis and is mediated by evolutionarily conserved autophagy …
C-type lectins in immunity and homeostasis
GD Brown, JA Willment, L Whitehead - Nature Reviews Immunology, 2018 - nature.com
The C-type lectins are a superfamily of proteins that recognize a broad repertoire of ligands
and that regulate a diverse range of physiological functions. Most research attention has …
and that regulate a diverse range of physiological functions. Most research attention has …
[HTML][HTML] A single-cell atlas of chromatin accessibility in the human genome
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …
Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma
Asthma is a chronic and genetically complex respiratory disease that affects over 300 million
people worldwide. Here, we report a genome-wide analysis for asthma using data from the …
people worldwide. Here, we report a genome-wide analysis for asthma using data from the …
Shared genetic risk factors and causal association between psoriasis and coronary artery disease
Psoriasis and coronary artery disease (CAD) are related comorbidities that are well
established, but whether a genetic basis underlies this is not well studied. We apply trans …
established, but whether a genetic basis underlies this is not well studied. We apply trans …
Genetic mapping across autoimmune diseases reveals shared associations and mechanisms
MR Lincoln, N Connally, PP Axisa, C Gasperi… - Nature Genetics, 2024 - nature.com
Autoimmune and inflammatory diseases are polygenic disorders of the immune system.
Many genomic loci harbor risk alleles for several diseases, but the limited resolution of …
Many genomic loci harbor risk alleles for several diseases, but the limited resolution of …
The epidemiology and clinical manifestations of autoimmunity in selective IgA deficiency
DD Odineal, ME Gershwin - Clinical reviews in allergy & immunology, 2020 - Springer
Selective immunoglobulin A deficiency (SIgAD) is the most common primary
immunodeficiency, defined as an isolated deficiency of IgA (less than 0.07 g/L). Although the …
immunodeficiency, defined as an isolated deficiency of IgA (less than 0.07 g/L). Although the …
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
T Aung, M Ozaki, MC Lee, U Schlötzer-Schrehardt… - Nature …, 2017 - nature.com
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma
and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A …
and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A …
[HTML][HTML] Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency
H Abolhassani, A Aghamohammadi, M Fang… - Genetics in …, 2019 - Elsevier
Purpose The etiology of 80% of patients with primary antibody deficiency (PAD), the second
most common type of human immune system disorder after human immunodeficiency virus …
most common type of human immune system disorder after human immunodeficiency virus …
Minimized combinatorial CRISPR screens identify genetic interactions in autophagy
V Diehl, M Wegner, P Grumati, K Husnjak… - Nucleic acids …, 2021 - academic.oup.com
Combinatorial CRISPR-Cas screens have advanced the mapping of genetic interactions,
but their experimental scale limits the number of targetable gene combinations. Here, we …
but their experimental scale limits the number of targetable gene combinations. Here, we …