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Characterization of Ikaros zinc finger protein 1 mutations in acute myeloid leukemia

Researchers evaluated the clinical and genetic characteristics of acute myeloid leukemia (AML) patients with a mutant Ikaros zinc finger protein 1 (IKZF1).

2 Feb 2023

Combination of multiple maps uncovers new genetic risk factor for AMD

Combining a map of gene regulatory sites with disease-associated loci has uncovered a new genetic risk factor of adult-onset macular degeneration (AMD), according to a new study publishing January 17th in the open access journal PLOS Biology by Ran Elkon and Ruth Ashery-Padan of Tel Aviv University, Israel, and colleagues.

18 Jan 2023

Dementia risk in women may be reduced by hormone replacement therapy

Women are at greater risk for dementia than men, probably because of waning estrogen levels following menopause. Estrogen is a key female hormone linked to reproductive, sexual, and neurological functions. A new study published in the journal Alzheimer's Research & Therapy examines how hormone replacement works in women with a high genetic risk for AD.

17 Jan 2023

Childhood asthma risk appears to be influenced by both the intestinal microbiome and 17q12-21 genotype

Childhood asthma is a condition that may be affected by different types of factors. These include the state of the infant's gut microbiome, environmental factors, and genetic factors. A recent study attempted to shed more light on how asthma risk is linked to a combination of these factors, some of which are modifiable.

16 Jan 2023

A 35% increase in physical activity improves memory and cognition in healthy elderly

A randomized controlled trial conducted on elderly individuals shows that an improvement in physical fitness and cognition can be achieved by increasing daily physical activity to a certain level. The trial findings are published in the journal Alzheimer's Research & Therapy.

15 Jan 2023

Excessive mechanosensation in sensory neurons can cause joint deformities

Excessive mechanosensation in the neurons that enable the sense of one's limbs in space can disrupt musculoskeletal development and cause joint deformities like arthrogryposis, researchers report.

12 Jan 2023

UTSW researchers identify molecular function of 87 inherited genetic variants linked to prostate cancer

UT Southwestern researchers have identified the molecular function of 87 inherited genetic variants that affect the risk of prostate cancer, and the majority appear to control the activity of genes located far away from the risk variants themselves.

23 Dec 2022

Scientists study OAS–RNase L errors and COVID-19-associated multisystem inflammatory syndrome in children

Researchers assessed the inborn abnormalities of 2′-5′-oligoadenylate synthetase (OAS)-ribonuclease L (RNASEL) noted in coronavirus disease 2019 (COVID-19)-associated multisystem inflammatory syndrome in children (MIS-C).

23 Dec 2022

Polymorphisms in human immunoglobulin heavy chain genes can influence the function of SARS-CoV-2 neutralizing antibodies

Researchers isolated SARS-CoV-2 spike protein-targeted mAbs from convalescent healthcare workers, emphasizing the IGHV1-69 gene, the gene with the greatest structural and allelic variation.

14 Dec 2022

Klotho protein levels protect against cognitive decline in Alzheimer patients

Researchers compare Klotho protein levels of healthy individuals and patients diagnosed with different stages of Alzheimer’s disease.

27 Nov 2022

New studies improve understanding of the genetic factors that protect people against COVID-19

Two recent papers by Brazilian researchers have contributed to the scientific understanding of the genetic factors that protect people against infection by SARS-CoV-2 or prevent progression to severe COVID-19.

21 Nov 2022

Evaluating cell-free DNA-based blood tests for early detection of multiple cancers

Researchers assessed several approaches for a circulating cell-free deoxyribonucleic acid (cfDNA)-based multi-cancer early detection (MCED) test. Defining the clinical limit of detection (LOD) based on circulating tumor allele fraction (cTAF) enables the comparison of different approaches.

21 Nov 2022

Utilizing marine sources to extract DHA to treat Alzheimer’s

The anti-neurodegenerative effects of docosahexaenoic acid (DHA) and DHA-rich phospholipids (DH-PL) derived from fisheries and aquaculture byproducts.

15 Nov 2022

Researchers develop a new method to map the spatial evolution of cancers

Researchers developed a genetic clone mapping workflow centered around base-specific in situ sequencing (BaSISS) technology to derive quantitative maps of multiple genetic clones of cancer cells.

11 Nov 2022

A knowledgebase of currently known categorized COVID-19 severity variants

In a recent study posted to the medRxiv* preprint server, researchers assessed human genome variants related to the susceptibility and severity of coronavirus disease 2019 (COVID-19).

10 Nov 2022

The roles of innate and adaptive immunity in Alzheimer’s disease development and progression

Researchers reviewed research advancements showing the significant role both innate and adaptive immune systems play in the pathological course of Alzheimer’s disease.

10 Nov 2022

Increased paternal age may give rise to disease in the new generation

In a new study, researchers assessed the effects of paternal age on novel mutations and diseases in the next generation.

8 Nov 2022

Shared genetic effects between the autoimmune disease systemic lupus erythematosus and the clinical consequences of COVID-19

Researchers identified a genetic association signal, via genome-wide association studies, between severe COVID-19 with systemic lupus erythematosus, an autoimmune disease.

7 Nov 2022

The impact of existing and theoretical mutations on SARS-CoV-2 CD8+ T cell targets

Researchers evaluated the effect of mutations in SARS-CoV-2 variants of concern on CD8+ T cell responses.

25 Oct 2022

Dog ownership during infancy might attenuate the risk of persistent wheezing

In a new study, researchers examined the gene-environment (GxE) interactions between pet ownership in infancy and the 17q12-21 (asthma-risk) locus concerning wheezing.

24 Oct 2022