The Sequence for the week of 4/29-5/5 talks about a previously unreported repeat expansion founder mutation causing Spinocerebellar ataxia type 4 (SCA4). SCA4 is a rare subtype of SCA characterized by ataxia and nerve pain and numbness that has never before been associated with repeat expansions. This could mean an entirely new way to utilize testing and treatments for SCA4! #genetics, #publicpolicy, #geneticcounseling, #precisionmedicine, #translationalmedicine, #genetictesting, #geneticresearch, #genomesequencing, #spinocerebellarataxia, #SCA, #SCA4
Halie May’s Post
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Great preprint from Novartis Biomedical Research in which the authors demonstrate that ZNF469, a transcriptional regulator of collagen in human hepatic stellate cells (HSCs), is a determinant of NAFLD-associated liver fibrosis. In this study, the authors used the Vizgen #MERSCOPE #SpatialTranscriptomics platform powered by #MERFISH chemistry to profile 108 human liver biopsies. #MERSCOPE #MERFISH #SpatialTranscriptomics #SpatialBiology #SingleCell #SubCellular #OnlyRealDotsCount
The transcription factor ZNF469 regulates collagen production in liver fibrosis
biorxiv.org
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Interpretation of endocrine testing: this article describes potential causes of false-positive uptake on parathyroid scans. Read more: https://lnkd.in/eTPpnaad
The Right Hand Must Know What the Left Hand is Doing: A False-Positive Hotspot on the Sestamibi Scan
aaceclinicalcasereports.com
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Interpretation of endocrine testing: this article describes potential causes of false-positive uptake on parathyroid scans. Read more: https://lnkd.in/eTPpnaad
The Right Hand Must Know What the Left Hand is Doing: A False-Positive Hotspot on the Sestamibi Scan
aaceclinicalcasereports.com
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A new systems-level approach, published in JOR Spine, sheds light on the contribution of epigenetics to Marfan syndrome (MFS) and offers a plausible explanation for the complex phenotypes that are linked to reduced lifespan in untreated MFS patients. #ORSSMC https://buff.ly/4bCxDAs
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Recent findings re: commercial immunoassays for identifying pathophysiology can benefit the #ClinicalDevelopment of new #AlzheimersDisease treatments. Read the blog. https://lnkd.in/gT7ieY5c #ClinicalTrials #MedicalImaging #ChooseCalyx
Advances in Alzheimer’s Disease Clinical Trial Screening | Read the blog
calyx.dsmn8.com
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Recent findings re: commercial immunoassays for identifying pathophysiology can benefit the #ClinicalDevelopment of new #AlzheimersDisease treatments. Read the blog. https://lnkd.in/gFmffN_b #ClinicalTrials #MedicalImaging #ChooseCalyx
Advances in Alzheimer’s Disease Clinical Trial Screening | Read the blog
calyx.dsmn8.com
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The aim of this study was to develop guidelines and consensus recommendations on #safemedication use and #seizuremanagement in #mitochondrialepilepsy. https://lnkd.in/g9FxnZN6
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - PubMed
pubmed.ncbi.nlm.nih.gov
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Recent findings re: commercial immunoassays for identifying pathophysiology can benefit the #ClinicalDevelopment of new #AlzheimersDisease treatments. Read the blog. https://lnkd.in/e9QXfHk7 #ClinicalTrials #MedicalImaging #ChooseCalyx
Advances in Alzheimer’s Disease Clinical Trial Screening | Read the blog
calyx.dsmn8.com
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Recent findings re: commercial immunoassays for identifying pathophysiology can benefit the #ClinicalDevelopment of new #AlzheimersDisease treatments. Read the blog. https://lnkd.in/g_2aGvfu #ClinicalTrials #MedicalImaging #ChooseCalyx
Advances in Alzheimer’s Disease Clinical Trial Screening | Read the blog
calyx.dsmn8.com
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Recent findings re: commercial immunoassays for identifying pathophysiology can benefit the #ClinicalDevelopment of new #AlzheimersDisease treatments. Read the blog. https://lnkd.in/gDNwsDNi #ClinicalTrials #MedicalImaging #ChooseCalyx
Advances in Alzheimer’s Disease Clinical Trial Screening | Read the blog
calyx.dsmn8.com
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