Danish study could pave the way for better diagnosis of rare genetic diseases

byAarhus UniversityGraphical abstract. Credit:The American Journal of Human Genetics(2024). DOI: 10.1016/j.ajhg.2023.12.024There are over 7,000 different rare genetic diseases, and o

Updated on: March 14,2024 5

Danish study could pave the way for better diagnosis of rare genetic diseases

byAarhus UniversityGraphical abstract. Credit:The American Journal of Human Genetics(2024). DOI: 10.1016/j.ajhg.2023.12.024There are over 7,000 different rare genetic diseases, and o

Updated on:March 14,2024 5

Predicting neurodevelopmental disease in children from parents' traits

by Sam Sholtis,Pennsylvania State UniversityNeurodevelopmental and psychiatric disorders, and the genes that can lead to them, vary in a population (left, brighter red colors represent more seve

Updated on: March 14,2024 7

Predicting neurodevelopmental disease in children from parents' traits

by Sam Sholtis,Pennsylvania State UniversityNeurodevelopmental and psychiatric disorders, and the genes that can lead to them, vary in a population (left, brighter red colors represent more seve

Updated on:March 14,2024 7

Zebrafish's eye muscles give hope for people with muscular dystrophy diseases

by Claes Björnberg,Umea UniversityAxon and NMJ integrity is partially rescued by overexpression of fhl2b in trunk muscle of 5 dpf dmd-/-zebrafish larvae. Credit: https://umu.diva-portal.or

Updated on: March 14,2024 3

Zebrafish's eye muscles give hope for people with muscular dystrophy diseases

by Claes Björnberg,Umea UniversityAxon and NMJ integrity is partially rescued by overexpression of fhl2b in trunk muscle of 5 dpf dmd-/-zebrafish larvae. Credit: https://umu.diva-portal.or

Updated on:March 14,2024 3

Meta-analysis of ACE inhibitor–induced angioedema identifies novel risk locus in genome

by Petra Sandow,University Hospital BonnManhattan plot of the metaEURanalysis. The −log10association P values (vertical axis) for all variants of the metaEURanalysis against th

Updated on: March 14,2024 13

Meta-analysis of ACE inhibitor–induced angioedema identifies novel risk locus in genome

by Petra Sandow,University Hospital BonnManhattan plot of the metaEURanalysis. The −log10association P values (vertical axis) for all variants of the metaEURanalysis against th

Updated on:March 14,2024 13

Insights into epigenetics: The humanized FKBP5 mouse as a model organism

by Anke Schlee,Max Planck SocietySummary of study design and cohorts. Credit:Molecular Psychiatry(2024). DOI: 10.1038/s41380-024-02430-xThe candidate gene FKBP5 is involved in the de

Updated on: March 14,2024 6

Insights into epigenetics: The humanized FKBP5 mouse as a model organism

by Anke Schlee,Max Planck SocietySummary of study design and cohorts. Credit:Molecular Psychiatry(2024). DOI: 10.1038/s41380-024-02430-xThe candidate gene FKBP5 is involved in the de

Updated on:March 14,2024 6

Protein production glitches in Huntington's disease revealed

by Shafaq Zia,Whitehead Institute for Biomedical ResearchRNAs with expanded CAG repeats (red) form regions of high concentration in the nucleus (blue) of a cell. Credit: Rachel Anderson/ Whitehe

Updated on: March 14,2024 11

Protein production glitches in Huntington's disease revealed

by Shafaq Zia,Whitehead Institute for Biomedical ResearchRNAs with expanded CAG repeats (red) form regions of high concentration in the nucleus (blue) of a cell. Credit: Rachel Anderson/ Whitehe

Updated on:March 14,2024 11

Researchers uncover genetic factors for severe Lassa fever

by Allessandra DiCorato,Broad Institute of MIT and HarvardScanning electron image of the Lassa virus budding off a cell. Credit: NIAID Integrated Research Facility (IRF) in Fort Detrick, Marylan

Updated on: March 13,2024 6

Researchers uncover genetic factors for severe Lassa fever

by Allessandra DiCorato,Broad Institute of MIT and HarvardScanning electron image of the Lassa virus budding off a cell. Credit: NIAID Integrated Research Facility (IRF) in Fort Detrick, Marylan

Updated on:March 13,2024 6

How the brain develops in unborn babies

byUniversity of MontrealProtein–protein interaction networks for maternal, fetal, and famine genes. Deregulated (A) maternal, (B) fetal, or (C) famine genes were used as a query to obtain physic

Updated on: March 13,2024 14

How the brain develops in unborn babies

byUniversity of MontrealProtein–protein interaction networks for maternal, fetal, and famine genes. Deregulated (A) maternal, (B) fetal, or (C) famine genes were used as a query to obtain physic

Updated on:March 13,2024 14

Study identifies molecular mechanisms of rare neurodevelopmental disorder

by Melissa Rohman,Northwestern UniversityNeurons cultured for 65 days from healthy cells and those containing the PACS1 syndrome variant both have complex morphology and express neuronal microtu

Updated on: March 13,2024 5

Study identifies molecular mechanisms of rare neurodevelopmental disorder

by Melissa Rohman,Northwestern UniversityNeurons cultured for 65 days from healthy cells and those containing the PACS1 syndrome variant both have complex morphology and express neuronal microtu

Updated on:March 13,2024 5

Research provides further evidence that epigenetic changes can cause type 2 diabetes

byLund UniversityStudy design. EPIC array DNA methylation in islets of 25 T2D cases and 75 controls. RNA-seq data were available for 25 T2D cases and 72 controls. Islet DNA methylation was assoc

Updated on: March 13,2024 5

Research provides further evidence that epigenetic changes can cause type 2 diabetes

byLund UniversityStudy design. EPIC array DNA methylation in islets of 25 T2D cases and 75 controls. RNA-seq data were available for 25 T2D cases and 72 controls. Islet DNA methylation was assoc

Updated on:March 13,2024 5

Researchers uncover 'circular logic' of RNAs in Parkinson's disease

byBrigham and Women's HospitalScherzer and colleagues laser-captured neurons from 190 frozen postmortem human brain samples, including some non-neuronal cells for comparison. Then, they used

Updated on: March 13,2024 6

Researchers uncover 'circular logic' of RNAs in Parkinson's disease

byBrigham and Women's HospitalScherzer and colleagues laser-captured neurons from 190 frozen postmortem human brain samples, including some non-neuronal cells for comparison. Then, they used

Updated on:March 13,2024 6

Researcher identifies key mechanism in Parkinson's disease

by Anna Zarra Aldrich,University of ConnecticutProper regulation of LRRK2 levels is important for Parkinson's disease (PD). ATIC, a purine biosynthesis pathway enzyme, and its substrate prec

Updated on: March 13,2024 13

Researcher identifies key mechanism in Parkinson's disease

by Anna Zarra Aldrich,University of ConnecticutProper regulation of LRRK2 levels is important for Parkinson's disease (PD). ATIC, a purine biosynthesis pathway enzyme, and its substrate prec

Updated on:March 13,2024 13