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Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma https://www.cell.com/ajhg/pdf/S0002-9297(11)00355-7.pdf

Pax5 and B cells many articles out there on this https://www.mypathologyreport.ca/pathology-dictionary/pax5/

Merged https://www.cell.com/cell-reports/fulltext/S2211-1247(24)00611-9 Regulation of Foxo1 expression is critical for central B cell tolerance and allelic exclusion https://www.nature.com/articles/s41419-020-02982-0 https://www.cell.com/cell-reports/fulltext/S2211-1247(24)00611-9 Regulation of...

Notch3 and cadasil was something I looked at and in the early stages a lot of people have knock out fatigue and mood disorders

I think I’m following the timings of MS and just to confuse things even more my genetic disorder seems to come with a MS mimick that may even present in childhood https://pubmed.ncbi.nlm.nih.gov/23686687/

Acute EBV onset at age 17,night and day difference. After getting over mono it felt like some part of the reaction never left.

https://www.cuh.nhs.uk/patient-information/low-iga-levels-in-children-information-for-parents-and-families/ Low IgA Levels in children: Information for parents and families I suspect I may of had this and grown out of it but always wondered what happens,does another IG take over...

https://www.bbc.co.uk/news/uk-england-leicestershire-68929633 Long Covid study could give Leicester sufferer 'life back Tocilizumab may be effective in treating patients by reducing inflammation, thereby improving symptoms such as fatigue, breathlessness, brain fog and pain Also how is the...

Itaconate transporter SLC13A3 There are a few papers describing its involvement in different diseases https://m.youtube.com/shorts/qJW6JQ6iFPU Itaconate shunt update Earlier videos mention gene SOX3 https://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX3 FOXC1 and PAX5/6 of interest

NLGN2 links to a rare disease https://www.malacards.org/card/senior_loken_syndrome_7 Autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney , with or without medullary cystic renal disease, and progressive eye disease Thin basement membrane...

A paper mentioning COL4A1 https://www.pedneur.com/article/S0887-8994(23)00284-9/fulltext Monogenic Causes of Cerebrovascular Disease in Childhood: A Case Series Bridget E.L. Ostrem, MD, PhDbridget.ostrem@ucsf.edu ∙ Deena Godfrey, MDPaul A. Caruso, MDPatricia L. Musolino, MD, PhDa Results We...

https://en.m.wikipedia.org/wiki/CADASIL CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder and is thought to be caused by mutations of the NOTCH3 gene on...

https://diabetesjournals.org/diabetes/article/61/9/2340/14733/Rapamycin-IL-2-Combination-Therapy-in-Patients Rapamycin/IL-2 Combination Therapy in Patients With Type 1 Diabetes Augments Tregs yet Transiently Impairs β-Cell Function

COL4A1 is also a location for Axenfeld Rieger syndrome that I have

https://www.pharmgkb.org/pathway/PA154444041 Effects of antiplatelet drugs on platelet aggregation pathway.

https://en.m.wikipedia.org/wiki/Proteinopathy protein misfolding disease

The Unfixable Thought Machine | David Firth's Health Reminder (Ep 3)

One of the findings in mecfs was slightly elevated liver enzyme’s and it appears also in Covid https://pmc.ncbi.nlm.nih.gov/articles/PMC8713698/ Liver Injury and Elevated Levels of Interleukins, Interleukin-2 Receptor, and Interleukin-6 Predict the Severity in Patients With COVID-19

Col4a1 is of interest to me being a location of my rare genetic disorder Axenfeld Rieger syndrome also FOXO1 another location and FOXC1 This paper mentions rapamycin https://pmc.ncbi.nlm.nih.gov/articles/PMC3459649/ COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms...

Here it says Rapamycin can cause insulin resistance,I already suspect I have that Once again on rapamycin-induced insulin resistance and longevity: despite of or owing to https://pmc.ncbi.nlm.nih.gov/articles/PMC3384435/