Research
Topics:
INDEX
AI-chat 7
PRIME 20
aging 5
brain 8
cancer 12
climate 3
cognition 5
covid-19 2
crime 2
dental 2
diabetes 6
disease 2
economy 3
eyes 1
gender 1
genetics 7
heart 6
kidneys 1
language 1
lungs 2
metabolism 4
microbiome 1
nutrition 7
obesity 1
pain 4
physical 1
politics 2
pollution 1
privacy 1
psychology 7
radiation 1
reproduction 4
rights 1
sleep 1
soc-media
stress 1
virus 2
war-confl
 
Scanned: 1426
Evaluated: 167
Selected: 66

 
    DIABETES    GENETICS    LUNGS    NUTRITION   

Aaa14-006

Altered Lung Function in Diabetes: What Are the Factors?

Quote: In a study including individuals with type 1 diabetes (T1D), type 2 diabetes (T2D), or normal glucose tolerance from the German Diabetes Study, spirometry measurements showed lower forced expiratory volume in 1 second (FEV1) in those with T2D. These measures were linked to insulin sensitivity and insulin clearance, and Mendelian randomization supported a causal tie between the homeostasis model assessment of insulin resistance (HOMA-IR) and FEV1.
Comment: Some peole can fast, others suffer brain fog very quickly. It is all in your genes, not willpower.
Article: https://www.medscape.com/viewarticle/altered-lung-function-diabetes-what-are-factors-2026a1000b0a https://youtube.com/watch?v=gM-7HofARJw
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    PRIME    CANCER    GENETICS   

Mga14-002

MyGeneRisk Colon: A Web-Based Tool for Personalized Colorectal Cancer Risk Prediction Based on Genetics and Lifestyle

Quote: To bridge this gap, we developed MyGeneRisk Colon, a publicly accessible web portal that delivers individualized CRC risk prediction by incorporating genetic, demographic, family history, and lifestyle factors. This paper details the development of the underlying risk prediction model, the portals architecture and data security, our reporting framework, and engagement with a community advisory panel. Designed as a user-friendly platform, MyGeneRisk Colon aims to effectively communicate personalized CRC risk profiles and educate users and healthcare providers about prevention strategies.
Abstract: https://www.medrxiv.org/content/10.64898/2026.04.03.26349669v1
Full Text: https://www.medrxiv.org/content/10.64898/2026.04.03.26349669v1.full-text
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Search Authors: Jiayin Zheng Robert S Steinfelder Hang Yin Conghui Qu Minta Thomas Sushma S Thomas Cynthia Andrews Bianca Augusto Douglas C Corley Jeffrey K Lee Sonja I Berndt Andrew T Chan Stephen J Chanock Chris Gignoux Shauna R Goldberg Christopher A Haiman Jeroen R Huyghe Motoki Iwasaki Loic Le Marchand Soo Chin Lee Johana Melendez Ivan Mesa Shuji Ogino Viviam Sifontes Caroline Y Um Kala Visvanathan Larissa L White Andrea Williams Waverly Willis Alicja Wolk Taiki Yamaji Susan T Vadaparampil Gail P Jarvik Andrea N Burnett-Hartman Roger L Milne Elizabeth A Platz Jane C Figueiredo Wei Zheng Robert J MacInnis Julie R Palmer Stephanie L Schmit Iris Landorp-Vogelaar Ulrike Peters Li Hsu, 
    BRAIN    GENETICS   

Mge14-004

DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity

Quote: Results: Disease-causing variants in DNM1 cluster in mutational hotspots within the gene, which achieve Strong and Moderate evidence for pathogenicity based on ACMG guidelines. The overall DNM1 phenotype was homogeneous compared to other genetic epilepsy conditions: SCN2A, SCN8A, STXBP1, and SYNGAP1. The p. R237W (n15) variant was associated with bilateral tonic-clonic seizures, infantile spasms, and dystonia. The p. I398_R399insCR (n14) variant was associated with severe hypotonia, profound global delay, and cortical visual impairment. Five individuals with homozygous loss-of-function variants were clinically similar to dominant-negative DNM1-related disorder, but microcephaly and brain MRI abnormalities were more common in this group.
Abstract: https://www.medrxiv.org/content/10.64898/2026.04.05.26350183v1
Full Text: https://www.medrxiv.org/content/10.64898/2026.04.05.26350183v1.full-text
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Search Authors: Alicia G Harrison Shiva Ganesan Hongbo M Xie Shridhar Parthasarathy Jillian L McKee Jan H Magielski Kim Thalwitzer Rohit Lobo Manuela Pendziwiat Andreas van Baalen Hildtrud Muhle Annapurna Poduri Alisa Mo Gert Wiegand Katrin Ounap Ange-Line Bruel Marcello Scala Valeria Capra Sarah M Ruggiero Ingo Helbig, 
    CANCER    GENETICS   

Mge14-008

Mutation-specific impairment of TET2 and DNMT3A enzymatic activity predicts clonal hematopoiesis disease risk

Quote: Clonal hematopoiesis of indeterminate potential (CHIP) driven by somatic mutations in TET2 and DNMT3A is present in 10 of adults over 60 and confers substantial risk for hematologic malignancy and cardiovascular disease, yet the majority of patients with CHIP do not progress to disease....

Integrating the activity score with the clinical models substantially improves prediction of incident cytopenia, myeloid neoplasm, and major adverse cardiovascular events.

Abstract: https://www.medrxiv.org/content/10.64898/2026.04.03.26350108v1
Full Text: https://www.medrxiv.org/content/10.64898/2026.04.03.26350108v1.full-text
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Search Authors: Yash Pershad Kun Zhao Joseph C Van Amburg Robert W Corty Alyssa C Parker Alexander James Silver Yara F Almadani Ashwin Kishtagari Emily Hodges Michael R Savona J. Brett Heimlich Alexander G Bick, 
    GENETICS   

Mge14-010

Comparing Cardiac Genetic Testing Pathways: Impacts on Access, Informed Choice, and Decisional Satisfaction

Quote: Conclusion: Integrating genetic testing into cardiology practices increased access and reduced wait times; however, patients demonstrated significantly lower rates of informed decision making compared to those who attended a patient webinar offered through Medical Genetics.
Abstract: https://www.medrxiv.org/content/10.64898/2026.04.03.26350137v1
Full Text: https://www.medrxiv.org/content/10.64898/2026.04.03.26350137v1.full-text
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Search Authors: Susan Christian Tallia C. Belcher Marc Benoit Alicia Chan Tara Dzwiniel Erkan Ilhan Shailly Jain Karen Katchmer Omid Kiamanesh Margaret Lilley Julien Marcadier Skylar Moreau Andrew Muranyi Ashley Nicolas Priyana Sharma Xi Zhao Cathleen Huculak, 
    GENETICS    REPRODUCTION   

Mge14-016

Berrylyzer-an Efficient, Traceable, and Lightweight Intelligent Agentic System for Prenatal Genetic Diagnosis

Quote: Conclusion Berrylyzer represents an accurate, interpretable, and computationally lightweight variant prioritization system for prenatal genetic diagnosis. The superior performance across heterogeneous diagnostic contexts enables it as a practical solution for seamless integration into clinical pipelines, thereby advancing precision medicine in prenatal settings.
Abstract: https://www.medrxiv.org/content/10.64898/2026.04.02.26349929v1
Full Text: https://www.medrxiv.org/content/10.64898/2026.04.02.26349929v1.full-text
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Search Authors: Meng Meng Ling Liu Qianqian Du Xinyao Zhou Yuan Tian Kuan Sun Naiqi Li Pinggui Zhang Xianyi Lian Ning Fan Na Zhu Shujing Li Aiping Mao Yuezhen Li Gang Zou, 
    CANCER    GENETICS   

Mge14-020

Genomic ascertainment of PALB2-related cancer predisposition

Quote: CONCLUSION Genomic ascertainment of PALB2-heterozygotes identifies elevated risk for multiple cancers and increased mortality, although risks were lower than estimates from familial ascertainment. These findings inform risk management for individuals identified through genomic screening.
Abstract: https://www.medrxiv.org/content/10.64898/2026.04.03.26349984v1
Full Text: https://www.medrxiv.org/content/10.64898/2026.04.03.26349984v1.full-text
Search Similar: Brave Mojeek Startpage Dogpile Bing Googl Lycos Utub Yaho 
Search Authors: Douglas Stewart Jung Kim Jeremy S Haley Jiang Li Michael R Sargen Hyokyoung G. Hong Marc Tischkowitz LIsa J. McReynolds David J. Carey, 

  Javilk's Research Links for Week 14
Updated 04/11/2026-01:28:16 AM
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