|   |
| Research Topics: |
| INDEX |
| AI-chat 2 |
| PRIME 22 |
| PRIO 7 |
| aging 6 |
| body 1 |
| brain 4 |
| brainwave 1 |
| cancer 20 |
| cognition 1 |
| covid-19 2 |
| culture 3 |
| dental 2 |
| diabetes 3 |
| drugs 2 |
| economy 1 |
| emergency 1 |
| eyes 2 |
| genetics 5 |
| heart 5 |
| immune 3 |
| language 1 |
| lungs 1 |
| metabolism 3 |
| microbiome 3 |
| misc |
| nutrition 8 |
| obesity 2 |
| pain 1 |
| physical 1 |
| politics 1 |
| pollution 1 |
| practice 2 |
| privacy 1 |
| psychology 8 |
| quantum 1 |
| reproduction 3 |
| rights 1 |
| sleep 2 |
| soc-media |
| unk |
|
Scanned: 3005 Evaluated: 373 Selected: 72 Back Issue Map |
| GENETICS | ||||||||
Mge40-014 | Systematic evaluation of incomplete penetrance in 4,325 rare disease families reveals divergent transcriptional networks in CHD8 pathology | |||||||
| Quote: | Methylation analysis of the CHD8 family confirmed a positive CHD8 clinical episignature in the male proband, but also in the reportedly unaffected mother. Transcriptomic analysis showed that despite similar CHD8 haploinsufficiency, the proband and mother displayed divergent downstream transcriptional effects. DISCUSSION This study highlights the importance of considering parentally inherited IP variants in rare disease, with at least 1 in 60 diagnostic variants inherited from a reportedly unaffected parent, and demonstrates the potential of integrating omics evaluation to improve variant interpretation. | |||||||
| Abstract: | https://www.medrxiv.org/content/10.64898/2026.10.05.26364218v1 | |||||||
| Full Text: | https://www.medrxiv.org/content/10.64898/2026.10.05.26364218v1.full-text | |||||||
| Search Similar: | Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho | |||||||
| Search Authors: | Mugdha Singh Sarah L. Stenton Emily Groopman Moriel Singer-Berk Jialan Ma Sanaa Choufani Emily OHeir Stephanie DiTroia Ikeoluwa Osei-Owusu Lynn Pais Gabrielle Lemire Melanie OLeary Christina Austin-Tse Casie A Genetti Katherine N Anderson Monica H Wojcik Alan H Beggs Jennifer E Neil Abbe Lai Christopher A Walsh Julie A Jurgens Brenda J Barry Elizabeth C Engle Sandra Donkervoort Carsten G Bonnemann Emanuela Argilli Elliott H Sherr Patricia Kipkemoi Zandre Bruwer Kirsten A Donald Volker Straub Ana Topf Susan M White Tiong Yang Tan Lyndon Gallacher Peers Arts Matilda R Jackson Thuong T Ha Christopher P Barnett Alicia B Byrne Hamish S Scott Vijay S Ganesh Heidi L Rehm Rosanna Weksberg Anne ODonnell-Luria Sanna Gudmundsson, | |||||||
| PRIME   PRIO   AGING   CULTURE   GENETICS | ||||||||
Mge40-015 | A Multiethnic Analysis of DNA Methylation Reveals Links Between Alzheimers Disease and Metabolic Comorbidities | |||||||
| Quote: | FROM FULL PDF: Adding to the complexity of the risk model is the fact that both AD and metabolic conditions disproportionately impact certain populations. For instance, MetS and T2D are roughly twice as common among Mexican American (MA) individuals, who are also 1.5 times more likely than non-Hispanic White (NHW) individuals to develop AD. In addition, genetic risk factors for AD also vary substantially by ethnicity. | |||||||
| Comment: | Geography and Evolution created Nature as we know it. Evolution is a competition between idividuals and species for dominance, making it fundamentally racist. It is the goal of any society to blend the advantages of the individuals to cover the weakensses of the individuals so as to advance that society vs other soceties. This is true whether it is the social structure just discovered hidden in the communications of trees via roots in forests, or the very visible social cooperation in human mations. No society in recent history has done this better than the "meltimg pot" of America/ This was in large part via the use of the economic tokens we call money. Think about this: The most common example is our trust of the cash register operator regardless of their race or ethnic background, as they record the fixed prices of the goods we purchase. In contrast with cultures where the marketplace is ruled by the argument of haggling over prices, our Fixed-Price market culture and the enforced fairness of the cash register have done far more for racial equiality and trust than any group of advocates, laws, or religious tenants ever did. | |||||||
| Abstract: | https://www.medrxiv.org/content/10.64898/2026.10.05.26364777v1 | |||||||
| Full Text: | https://www.medrxiv.org/content/10.64898/2026.10.05.26364777v1.full-text | |||||||
| Search Similar: | Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho | |||||||
| Search Authors: | Benjamin Landon Ann Abraham Daniel Tamara Fischer Nicole Phillips Robert Barber Austin Reynolds span classnlm-collab data-hwp-idcollab-1The Health and Aging Brain Study: Health Disparities (HABS-HD) Study Team, | |||||||
| GENETICS REPRODUCTION   | ||||||||
Mob40-015 | Contribution of maternal and fetal genetics to fetal weight throughout pregnancy and at birth | |||||||
| Quote: | Conclusions: Maternal and fetal PRSs jointly account for #8764;11-12 of birthweight variance in European ancestry groups, but much less in a South Asian cohort. In POPS, the effect of birthweight-associated SNPs on estimated fetal weight increases more rapidly across pregnancy for maternal than for fetal genetic effects. Deviation from genetically-predicted birthweight may be a useful metric to help distinguish growth-restricted from constitutionally small babies. | |||||||
| Abstract: | https://www.medrxiv.org/content/10.64898/2026.10.04.26364695v1 | |||||||
| Full Text: | https://www.medrxiv.org/content/10.64898/2026.10.04.26364695v1.full-text | |||||||
| Search Similar: | Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho | |||||||
| Search Authors: | Frances E Cates Olivia Wootton Jasmine X Kiley Tabitha Wishlade Ulla Sovio Gordon C S Smith Jasmine A Mack D. Stephen Charnock-Jones Hilary C Martin Catherine E Aiken, | |||||||
| PRIME   EYES   GENETICS | ||||||||
Mop40-013 | Intracortical microstimulation evokes diverse electrode-specific phosphenes in the early visual cortex of blind individuals | |||||||
| Quote: | Conclusions: Intracortical microstimulation of the human visual cortex produces phosphenes with diverse, electrode-specific appearances that are recognizable across repeated trials. These findings indicate that penetrating microelectrodes often evoke more structured percepts than simple points or blobs, providing foundational evidence that electrode-specific encoding strategies will be necessary in future visual prosthetic devices. | |||||||
| Comment: | Evidence of pre-existing perceptual structure, probably genetic. | |||||||
| Abstract: | https://www.medrxiv.org/content/10.64898/2026.10.05.26364412v1 | |||||||
| Full Text: | https://www.medrxiv.org/content/10.64898/2026.10.05.26364412v1.full-text | |||||||
| Search Similar: | Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho | |||||||
| Search Authors: | Leili Soo Alfonso Rodil Doblado Fabrizio Grani Rocio Lopez Peco Adrian Villamarin-Ortiz Roberto Morollon Ruiz Dorota Waclawczyk Ione Fine Pablo Gonzalez-Lopez Cristina Soto-Sanchez Arantxa Alfaro Eduardo Fernandez, | |||||||
| GENETICS | ||||||||
Sd402-013 | Scientists Discover a Human Brain Gene That Can Jump Through DNA | |||||||
| Quote: | Researchers at Cornell University made the discovery after finding a human genetic element inside a poxvirus. Their analysis showed that the element, known as BC200, is not only associated with brain function but also behaves like a jumping gene, meaning it can move and insert itself into genomes. | |||||||
| Article: | https://www.sciencedaily.com//releases/2026/10/261002080013.htm | |||||||
| Search Similar: | Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho | |||||||
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Javilk's Research Links Newsletter for Week 40 Updated 10/10/2026-01:10:19 AM Back Issue Topic Map What interests you? What have you found? Tell me! Drop me a note at Javilk.com to subscribe or submit something. |