Derivation and independent validation of kidneyintelX.dkd: A prognostic test for the assessment of diabetic kidney disease progression.

Link: https://doi.org/10.1111/dom.15273 Authors: Nadkarni, Girish N; Stapleton, Sharon; Takale, Dipti; Edwards, Katherine; Moran, Kara; Mosoyan, Gohar; Hansen, Michael K; Donovan, Michael J; Heerspink, Hiddo J L; Fleming, Fergus; Coca, Steven G Abstract: To develop and validate an updated version of KidneyIntelX (kidneyintelX.dkd) to stratify patients for risk of progression of diabetic kidney disease (DKD) stages…

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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

Link: https://doi.org/S0085-2538(23)00559-8 Authors: Claus, Laura R; Chen, Chuan; Stallworth, Jennifer; Turner, Joshua L; Slaats, Gisela G; Hawks, Alexandra L; Mabillard, Holly; Senum, Sarah R; Srikanth, Sujata; Flanagan-Steet, Heather; Louie, Raymond J; Silver, Josh; Lerner-Ellis, Jordan; Morel, Chantal; Mighton, Chloe; Sleutels, Frank; van Slegtenhorst, Marjon; van Ham, Tjakko; Brooks, Alice S; Dorresteijn, Eiske M; Barakat, Tahsin…

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A study of gene expression in the living human brain.

Link: https://doi.org/10.1101/2023.04.21.23288916 Authors: Liharska, Lora E; Park, You Jeong; Ziafat, Kimia; Wilkins, Lillian; Silk, Hannah; Linares, Lisa M; Vornholt, Eric; Sullivan, Brendan; Cohen, Vanessa; Kota, Prashant; Feng, Claudia; Cheng, Esther; Moya, Emily; Thompson, Ryan C; Johnson, Jessica S; Rieder, Marysia-Kolbe; Huang, Jia; Scarpa, Joseph; Hashemi, Alice; Polanco, Jairo; Levin, Matthew A; Nadkarni, Girish N; Sebra,…

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Reversal of dual epigenetic repression of non-canonical Wnt-5a normalises diabetic corneal epithelial wound healing and stem cells.

Link: https://doi.org/10.1007/s00125-023-05960-1 Authors: Shah, Ruchi; Spektor, Tanya M; Weisenberger, Daniel J; Ding, Hui; Patil, Rameshwar; Amador, Cynthia; Song, Xue-Ying; Chun, Steven T; Inzalaco, Jake; Turjman, Sue; Ghiam, Sean; Jeong-Kim, Jiho; Tolstoff, Sasha; Yampolsky, Sabina V; Sawant, Onkar B; Rabinowitz, Yaron S; Maguen, Ezra; Hamrah, Pedram; Svendsen, Clive N; Saghizadeh, Mehrnoosh; Ljubimova, Julia Y; Kramerov, Andrei…

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Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program.

Link: https://doi.org/10.1038/s41588-023-01420-z Authors: Klarin, Derek; Devineni, Poornima; Sendamarai, Anoop K; Angueira, Anthony R; Graham, Sarah E; Shen, Ying H; Levin, Michael G; Pirruccello, James P; Surakka, Ida; Karnam, Purushotham R; Roychowdhury, Tanmoy; Li, Yanming; Wang, Minxian; Aragam, Krishna G; Paruchuri, Kaavya; Zuber, Verena; Shakt, Gabrielle E; Tsao, Noah L; Judy, Renae L; Vy, Ha My…

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Proteomic characterization of acute kidney injury in patients hospitalized with SARS-CoV2 infection.

Link: https://doi.org/10.1038/s43856-023-00307-8 Authors: Paranjpe, Ishan; Jayaraman, Pushkala; Su, Chen-Yang; Zhou, Sirui; Chen, Steven; Thompson, Ryan; Del Valle, Diane Marie; Kenigsberg, Ephraim; Zhao, Shan; Jaladanki, Suraj; Chaudhary, Kumardeep; Ascolillo, Steven; Vaid, Akhil; Gonzalez-Kozlova, Edgar; Kauffman, Justin; Kumar, Arvind; Paranjpe, Manish; Hagan, Ross O; Kamat, Samir; Gulamali, Faris F; Xie, Hui; Harris, Joceyln; Patel, Manishkumar; Argueta, Kimberly;…

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Polygenic prediction of preeclampsia and gestational hypertension.

Link: https://doi.org/10.1038/s41591-023-02374-9 Authors: Honigberg, Michael C; Truong, Buu; Khan, Raiyan R; Xiao, Brenda; Bhatta, Laxmi; Vy, Ha My T; Guerrero, Rafael F; Schuermans, Art; Selvaraj, Margaret Sunitha; Patel, Aniruddh P; Koyama, Satoshi; Cho, So Mi Jemma; Vellarikkal, Shamsudheen Karuthedath; Trinder, Mark; Urbut, Sarah M; Gray, Kathryn J; Brumpton, Ben M; Patil, Snehal; Zöllner, Sebastian; Antopia,…

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Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH.

Link: https://doi.org/10.1007/s00125-023-05922-7 Authors: Li, Josephine H; Brenner, Laura N; Kaur, Varinderpal; Figueroa, Katherine; Schroeder, Philip; Huerta-Chagoya, Alicia; , ; , ; Udler, Miriam S; Leong, Aaron; Mercader, Josep M; Florez, Jose C Abstract: Characterisation of genetic variation that influences the response to glucose-lowering medications is instrumental to precision medicine for treatment of type 2 diabetes.…

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A machine learning approach to determine resilience utilizing wearable device data: analysis of an observational cohort.

Link: https://doi.org/10.1093/jamiaopen/ooad029 Authors: Hirten, Robert P; Suprun, Maria; Danieletto, Matteo; Zweig, Micol; Golden, Eddye; Pyzik, Renata; Kaur, Sparshdeep; Helmus, Drew; Biello, Anthony; Landell, Kyle; Rodrigues, Jovita; Bottinger, Erwin P; Keefer, Laurie; Charney, Dennis; Nadkarni, Girish N; Suarez-Farinas, Mayte; Fayad, Zahi A Abstract: To assess whether an individual’s degree of psychological resilience can be determined from…

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A machine learning model identifies patients in need of autoimmune disease testing using electronic health records.

Link: https://doi.org/10.1038/s41467-023-37996-7 Authors: Forrest, Iain S; Petrazzini, Ben O; Duffy, Áine; Park, Joshua K; O’Neal, Anya J; Jordan, Daniel M; Rocheleau, Ghislain; Nadkarni, Girish N; Cho, Judy H; Blazer, Ashira D; Do, Ron Abstract: Systemic autoimmune rheumatic diseases (SARDs) can lead to irreversible damage if left untreated, yet these patients often endure long diagnostic journeys…

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