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
Energy homeostasis genes modify the association between serum concentrations of IGF-1 and IGFBP-3 and breast cancer risk.
Scientific Reports
Rodríguez-Valentín, Rocío R; Torres-Mejía, Gabriela G; Martínez-Matsushita, Louis L; Angeles-Llerenas, Angélica A; Gómez-Flores-Ramos, Liliana L; Wolff, Roger K RK; Baumgartner, Kathy B KB; Hines, Lisa M LM; Ziv, Elad E; Flores-Luna, Lourdes L; Sánchez-Zamorano, Luisa Ma LM; Ortiz-Panozo, Eduardo E; Slattery, Martha L ML
Candidate Gene and Genome-Wide Association Studies for Circulating Leptin Levels Reveal Population and Sex-Specific Associations in High Cardiovascular Risk Mediterranean Subjects.
Nutrients
Ortega-Azorín, Carolina C; Coltell, Oscar O; Asensio, Eva M EM; Sorlí, Jose V JV; González, José I JI; Portolés, Olga O; Saiz, Carmen C; Estruch, Ramon R; Ramírez-Sabio, Judith B JB; Pérez-Fidalgo, Alejandro A; Ordovas, Jose M JM; Corella, Dolores D
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
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27
Variant appearance in text: LEPROT: 16+590A>C; rs12145690
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Energy homeostasis genes and breast cancer risk: The influence of ancestry, body size, and menopausal status, the breast cancer health disparities study.
Cancer Epidemiology
Slattery, Martha L ML; Lundgreen, Abbie A; Hines, Lisa L; Wolff, Roger K RK; Torres-Mejia, Gabriella G; Baumgartner, Kathy N KN; John, Esther M EM
Variation in genes related to obesity, weight, and weight change and risk of contralateral breast cancer in the WECARE Study population.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Brooks, Jennifer D JD; Bernstein, Leslie L; Teraoka, Sharon N SN; Knight, Julia A JA; Mellemkjær, Lene L; John, Esther M EM; Malone, Kathleen E KE; Reiner, Anne S AS; Lynch, Charles F CF; Concannon, Patrick P; Haile, Robert W RW; Bernstein, Jonine L JL; ,