[HTML][HTML] Biological functions of autophagy genes: a disease perspective

B Levine, G Kroemer - Cell, 2019 - cell.com
The lysosomal degradation pathway of autophagy plays a fundamental role in cellular,
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 …

[HTML][HTML] A single-cell atlas of chromatin accessibility in the human genome

K Zhang, JD Hocker, M Miller, X Hou, J Chiou… - Cell, 2021 - cell.com
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 …

Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma

Y Han, Q Jia, PS Jahani, BP Hurrell, C Pan… - Nature …, 2020 - nature.com
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 …

Shared genetic risk factors and causal association between psoriasis and coronary artery disease

MT Patrick, Q Li, R Wasikowski, N Mehta… - Nature …, 2022 - nature.com
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 …

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 …

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 …

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 …

[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 …

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 …