Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.
Development and validation of a multivariable genotype-informed gestational diabetes prediction algorithm for clinical use in the Mexican population: insights into susceptibility mechanisms.
Bmj Open Diabetes Research & Care
Zulueta, Mirella M; Gallardo-Rincón, Héctor H; Martinez-Juarez, Luis Alberto LA; Lomelin-Gascon, Julieta J; Ortega-Montiel, Janinne J; Montoya, Alejandra A; Mendizabal, Leire L; Arregi, Maddi M; Martinez-Martinez, María de Los Angeles MLA; Camarillo Romero, Eneida Del Socorro EDS; Mendieta Zerón, Hugo H; Garduño García, José de Jesús JJ; Simón, Laureano L; Tapia-Conyer, Roberto R
Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14
Variant appearance in text: MTHFR: 1286A>C; Glu429Ala
Personalized Medicine in Infant Population with Cancer: Pharmacogenetic Pilot Study of Polymorphisms Related to Toxicity and Response to Chemotherapy.
Cancers
Urtasun, Andrea A; Olivera, Gladys G GG; Sendra, Luis L; Aliño, Salvador F SF; Berlanga, Pablo P; Gargallo, Pablo P; Hervás, David D; Balaguer, Julia J; Juan-Ribelles, Antonio A; Andrés, María Del Mar MDM; Cañete, Adela A; Herrero, María José MJ
Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M
A Systematic Review and Meta-Analysis of the Association between the FV H1299R Variant and the Risk of Recurrent Pregnancy Loss.
Biology
Capra, Anna Paola AP; Ardizzone, Alessio A; Briuglia, Silvana S; La Rosa, Maria Angela MA; Mondello, Stefania S; Campolo, Michela M; Esposito, Emanuela E