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Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant
Acromesomelic dysplasia, PRKG2 type (AMDP, MIM 619636), is an extremely rare autosomal recessive skeletal dysplasia characterized by severe...
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A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia
Hereditary hyperekplexia is a rare neuronal disorder characterized by an exaggerated startle response to sudden tactile or acoustic stimuli. In this...
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Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification
CRISPR base editing screens enable analysis of disease-associated variants at scale; however, variable efficiency and precision confounds the...
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Potential Impact of SOD2 (rs4880; p.Val16Ala) Variant with the Susceptibility for Childhood Bronchial Asthma
Oxidative stress is a sophisticated situation that orignates from the accumulation of reactive free radicals within cellular compartments. The...
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Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis
Biallelic pathogenic variants in the surfactant protein (SP)-B gene ( SFTPB ) have been associated with fatal forms of interstitial lung diseases (ILD)...
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Omicron variant evolution on vaccines and monoclonal antibodies
The severe acute respiratory syndrome coronavirus (SARS-CoV)-2 responsible for the global COVID-19 pandemic has caused almost 760 million confirmed...
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A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures
Glycosylphosphatidylinositol (GPI)-anchored proteins are located at the cell surface by a covalent attachment between protein and GPI embedded in the...
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Novel frameshift variant of WNT10A in a Japanese patient with hypodontia
Congenital tooth agenesis is caused by the impairment of crucial genes related to tooth development, such as Wnt signaling pathway genes. Here, we...
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Interplay between lncRNA RP11-367G18.1 variant 2 and YY1 plays a vital role in hypoxia-mediated gene expression and tumorigenesis
BackgroundThe hypoxia-responsive long non-coding RNA, RP11-367G18.1 , has recently been reported to induce histone 4 lysine 16 acetylation (H4K16Ac)...
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GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family
AbstractGM2 gangliosidosis is a hereditary lysosomal storage disorder resulting from mutations in the Hexosaminidase A (HEXA) gene, which leads to a...
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Immune responses to P falciparum antibodies in symptomatic malaria patients with variant hemoglobin genotypes in Ghana
BackgroundHaemoglobin (Hb) variants such as sickle cell trait (SCT/HbAS) play a role in protecting against clinical malaria, but little is known...
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Identification of vaccine candidate against Omicron variant of SARS-CoV-2 using immunoinformatic approaches
Despite the availability of COVID-19 vaccines, additional more potent vaccines are still required against the emerging variations of the severe acute...
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Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition
BackgroundCingulin (CGN) is a pivotal cytoskeletal adaptor protein located at tight junctions. This study investigates the link between CGN mutation...
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Multi-omics and multi-stages integration identified a novel variant associated with silicosis risk
Assessing the association between candidate single-nucleotide polymorphisms (SNPs) identified by multi-omics approaches and susceptibility to...
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Modified influenza M158–66 peptide vaccination induces non-relevant T-cells and may enhance pathology after challenge
CD8 + T cells are promising targets for vaccination against influenza A virus (IAV) infection. Their induction via peptide vaccination is not...
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A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia
Idiopathic hypersomnia (IH) is a rare, heterogeneous sleep disorder characterized by excessive daytime sleepiness. In contrast to narcolepsy type 1,...
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Senotherapeutic peptide treatment reduces biological age and senescence burden in human skin models
Cellular senescence is known to play a role in age-related skin function deterioration which potentially influences longevity. Here, a two-step...
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Broad humoral immunity generated in mice by a formulation composed of two antigens from the Delta variant of SARS-CoV-2
Due to the rapid development of new variants of SARS-CoV-2 as well as the real threat of new coronavirus zoonosis events, the development of a...
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Impaired STING Activation Due to a Variant in the E3 Ubiquitin Ligase AMFR in a Patient with Severe VZV Infection and Hemophagocytic Lymphohistiocytosis
Varicella zoster virus (VZV) is a neurotropic alphaherpesvirus exclusively infecting humans, causing two distinct pathologies: varicella (chickenpox)...
