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: TCN2: 776G>C; Arg259Pro
Gene-Folic Acid Interactions and Risk of Conotruncal Heart Defects: Results from the National Birth Defects Prevention Study.
Genes
Webber, Daniel M DM; Li, Ming M; MacLeod, Stewart L SL; Tang, Xinyu X; Levy, Joseph W JW; Karim, Mohammad A MA; Erickson, Stephen W SW; Hobbs, Charlotte A CA; The National Birth Defects Prevention Study,
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
Genetic Aspects of Micronutrients Important for Inflammatory Bowel Disease.
Life (Basel, Switzerland)
Dragasevic, Sanja S; Stankovic, Biljana B; Kotur, Nikola N; Milutinovic, Aleksandra Sokic AS; Milovanovic, Tamara T; Stojkovic Lalosevic, Milica M; Stojanovic, Maja M; Pavlovic, Sonja S; Popovic, Dragan D
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Homocysteine levels, genetic background, and cognitive impairment in Parkinson's disease.
Journal Of Neurology
Periñán, María Teresa MT; Macías-García, Daniel D; Jesús, Silvia S; Martín-Rodríguez, Juan Francisco JF; Muñoz-Delgado, Laura L; Jimenez-Jaraba, Maria Valle MV; Buiza-Rueda, Dolores D; Bonilla-Toribio, Marta M; Adarmes-Gómez, Astrid Daniela AD; Gómez-Garre, Pilar P; Mir, Pablo P
An Assessment of Selected Molecular and Biochemical Markers of the Folate Pathway as Potential Risk Factors for Fetal Trisomy 21 during the First Trimester of Pregnancy in the Polish Population.
Journal Of Clinical Medicine
Ziółkowska, Katarzyna K; Toboła-Wróbel, Kinga K; Pietryga, Marek M; Kasprzak, Grażyna G; Jamsheer, Aleksander A; Wysocka, Ewa E
Publication Date: 2022-02-23
Variant appearance in text: TCN2: 776G>C; Arg259Pro; rs1801198
Maternal vitamin B12, folate during pregnancy and neurocognitive outcomes in young adults of the Pune Maternal Nutrition Study (PMNS) prospective birth cohort: study protocol.
Bmj Open
Behere, Rishikesh V RV; Deshpande, Gopikrishna G; Bandyopadhyay, Souvik Kumar SK; Yajnik, Chittaranjan C
Genetic Polymorphisms in Enzymes Involved in One-Carbon Metabolism and Anti-epileptic Drug Monotherapy on Homocysteine Metabolism in Patients With Epilepsy.
Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29
Variant appearance in text: TCN2: 776G>C; Arg259Pro; rs1801198
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: TCN2: 776G>C; R259P; rs1801198
Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.
Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08
Variant appearance in text: TCN2: R259P; rs1801198
Maternal folate, one-carbon metabolism and pregnancy outcomes.
Maternal & Child Nutrition
Jankovic-Karasoulos, Tanja T; Furness, Denise L DL; Leemaqz, Shalem Y SY; Dekker, Gustaaf A GA; Grzeskowiak, Luke E LE; Grieger, Jessica A JA; Andraweera, Prabha H PH; McCullough, Dylan D; McAninch, Dale D; McCowan, Lesley M LM; Bianco-Miotto, Tina T; Roberts, Claire T CT
The Effect of Interactions between Folic Acid Supplementation and One Carbon Metabolism Gene Variants on Small-for-Gestational-Age Births in the Screening for Pregnancy Endpoints (SCOPE) Cohort Study.
Nutrients
Bulloch, Rhodi E RE; Wall, Clare R CR; McCowan, Lesley M E LME; Taylor, Rennae S RS; Roberts, Claire T CT; Thompson, John M D JMD
The role of myoglobin in epithelial cancers: Insights from transcriptomics.
International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02
Variant appearance in text: TCN2: 776G>C; Arg259Pro
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09
Variant appearance in text: TCN2: R259P; rs1801198