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Loss of G9a does not phenocopy the requirement for Prdm12 in the development of the nociceptive neuron lineage
Prdm12 is an epigenetic regulator expressed in develo** and mature nociceptive neurons, playing a key role in their specification during...
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Identification of phenocopies improves prediction of targeted therapy response over DNA mutations alone
DNA mutations in specific genes can confer preferential benefit from drugs targeting those genes. However, other molecular perturbations can...
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Phenocopy syndrome of behavioral variant frontotemporal dementia: a systematic review
BackgroundThe phenocopy syndrome of behavioral variant of frontotemporal dementia (phFTD) refers to patients presenting with neuropsychiatric...
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Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
We report the updated classification of inborn errors of immunity, compiled by the International Union of Immunological Societies Expert Committee....
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The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
The International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) reports here the 2022 updated...
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Genetics of human telomere biology disorders
Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that prevent the activation of DNA damage response and repair...
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Genome-wide linkage search for cancer susceptibility loci in a cohort of non BRCA1/2 families in Sri Lanka
ObjectiveAlthough linkage studies have been utilized for the identification of variants associated with cancer in the world, little is known about...
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Human Sporadic Prion Diseases
Sporadic or idiopathic prion diseases account for over 90% of all human prion diseases, and sporadic Creutzfeldt–Jakob disease (sCJD) is by far the...
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Photoreceptor Ion Channels in Signaling and Disease
Photoreceptors (PRs) in the neural retina convert photon capture into an electrical signal that is communicated across a chemical synapse to...
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Patient-derived tumor models: a more suitable tool for pre-clinical studies in colorectal cancer
Colorectal cancer (CRC), despite the advances in screening and surveillance, remains the second most common cause of cancer death worldwide. The...
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Biochemical, Biomarker, and Behavioral Characterization of the GrnR493X Mouse Model of Frontotemporal Dementia
Heterozygous loss-of-function mutations in the progranulin gene ( GRN ) are a major cause of frontotemporal dementia due to progranulin...
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Possible New Candidates Involved to Thalidomide-Related Limbs and Cardiac Defects: A Systems Biology Approach
Thalidomide is a known teratogen that causes malformations especially in heart and limbs. Its mechanism of teratogenicity is still not fully...
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Targeting Mitochondrial Dynamics as a Restorative Approach in the Treatment of Alzheimer’s Disease
The progressive damage and deprivation of neuronal cholinergic neurons lead to critical loss of learning and memory-based brain function,...
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Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family
Dyslexia is a common heritable developmental disorder involving impaired reading abilities. Its genetic underpinnings are thought to be complex and...
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Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is common, with a prevalence of 1/1000 and predominantly caused by disease-causing variants in PKD1...
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Behavioural Variant Frontotemporal Dementia: Recent Advances in the Diagnosis and Understanding of the Disorder
Frontotemporal dementia (FTD), particularly the behavioural variant (bvFTD) form, has fascinated researchers. Recent years have seen an increasing...
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The ouroboros of autoimmunity
Human autoimmunity against elements conferring protective immunity can be symbolized by the ‘ouroboros’, a snake eating its own tail. Underlying...
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Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy
Photoreceptors are highly polarized sensory neurons. Precise localization of signaling molecules within the ciliary outer segment is critical for...