This review highlights emerging “neurodevelopmental proteasomopathies,” #monogenic disorders linked to #proteasome variants, discussing their molecular mechanisms, and potential as #biomarkers for diagnosis and therapy. @cnrs.fr @inserm.fr
#OpenAccess: doi.org/10.1016/j.ge...
This review highlights emerging “neurodevelopmental proteasomopathies,” #monogenic disorders linked to #proteasome variants, discussing their molecular mechanisms, and potential as #biomarkers for diagnosis and therapy. @cnrs.fr @inserm.fr
#OpenAccess: doi.org/10.1016/j.ge...
This is very impactful if we can further apply the findings in certain #monogenic #immunodeficiencies
#Monogenic #diabetes is mostly caused by impaired function or development of pancreatic islets, with defective #insulin secretion in the absence of obesity. https://www.nature.c
Absence seizures in monogenic epilepsies often show early onset, atypical features, drug-resistance, and poor developmental outcomes.
doi.org/10.1111/epi....
#epilepsy #ILAE #epilepsia #atypicalabsence #epilepsyclassification #monogenic #neurodevelopment #nextgenerationsequencing
📖”Loss-of-function mutations in PLD4 lead to systemic #lupus erythematosus”
👉 PLD4 loss-of-function mutations led to excessive activation of TLR7 and TLR9. Downstream…especially type I IFN signalling, were hyperactivated in patient dendritic cells.
#monogenic #SLE #Rheumsky
Arterial and venous thrombosis in systemic and monogenic vasculitis
⚠️ Be aware for early diagnosis‼️
🧬 Genetic testing vital—variable penetrance! Early strokes hint at diagnosis.
#vasculitis #thrombosis #monogenic #stroke #skin
www.nature.com/articles/s41...
Yanick Crow & @casanovalab.bsky.social examine how human #monogenic disorders of type I #IFN signaling reveal the narrow physiological range essential for life!
A proposed clinical tool to identify high-risk patients for #monogenic #lupus: a pilot study
💡<5 years
💡cosanguinity
💡Family #SLE
💡elevated ANA
💡pancytopenia
💡cutaneus lesions
💡Low C1q
💡Recurrent infections
💡Failure to thrive
www.clinexprheumatol.org/abstract.asp...
Genetic pathways explain why some people grow tall and others stay short 🧬📏🔍 www.news-medical.net/news/2025040... #Genetics #Height #Growth #GWAS #Polygenic #Monogenic #Epigenetics #Endocrinology #BoneHealth #HumanBiology
It is featuring a multicenter study led by Dr. Nadine Spielmann to analyze #cardiac function and structure in ~4,000 #monogenic #knockout mice and identifies 705 mouse genes involved in cardiac function, some validated using the @uk_biobank.
nature.com/articles/s4416…
...I am very lucky that it only took 32 years to get to a #diagnosis. I say this because 1/3 of people with my #monogenic #disease are dead by 35 if they are left untreated. What I have is thought to be 1/ a million. I was no. 13 in #Canada when I was diagnosed...
