Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis.
The Journal Of Biological Chemistry
Al-Bataineh, Mohammad M MM; Kinlough, Carol L CL; Marciszyn, Allison A; Lam, Tracey T; Ye, Lorena L; Kidd, Kendrah K; Maggiore, Joseph C JC; Poland, Paul A PA; Kmoch, Stan S; Bleyer, Anthony A; Bain, Daniel J DJ; Montalbetti, Nicolas N; Kleyman, Thomas R TR; Hughey, Rebecca P RP; Ray, Evan C EC
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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Risk Prediction for Gastric Cancer Using GWAS-Identifie Polymorphisms, Helicobacter pylori Infection and Lifestyle-Related Risk Factors in a Japanese Population.
A genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population.
Scientific Reports
Takahashi, Yasuo Y; Yamazaki, Keiko K; Kamatani, Yoichiro Y; Kubo, Michiaki M; Matsuda, Koichi K; Asai, Satoshi S
Human genomics of the humoral immune response against polyomaviruses.
Virus Evolution
Hodel, F F; Chong, A Y AY; Scepanovic, P P; Xu, Z M ZM; Naret, O O; Thorball, C W CW; Rüeger, S S; Marques-Vidal, P P; Vollenweider, P P; Begemann, M M; Ehrenreich, H H; Brenner, N N; Bender, N N; Waterboer, T T; Mentzer, A J AJ; Hill, A V S AVS; Hammer, C C; Fellay, J J
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
American Journal Of Nephrology
Vylet'al, Petr P; Kidd, Kendrah K; Ainsworth, Hannah C HC; Springer, Drahomíra D; Vrbacká, Alena A; Přistoupilová, Anna A; Hughey, Rebecca P RP; Alper, Seth L SL; Lennon, Niall N; Harrison, Steven S; Harden, Maegan M; Robins, Victoria V; Taylor, Abbigail A; Martin, Lauren L; Howard, Katrice K; Bitar, Ibrahim I; Langefeld, Carl D CD; Barešová, Veronika V; Hartmannová, Hana H; Hodaňová, Kateřina K; Zima, Tomáš T; Živná, Martina M; Kmoch, Stanislav S; Bleyer, Anthony J AJ
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
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
Single Nucleotide Polymorphisms Associated With Gut Homeostasis Influence Risk and Age-at-Onset of Parkinson's Disease.
Frontiers In Aging Neuroscience
Gorecki, Anastazja M AM; Bakeberg, Megan C MC; Theunissen, Frances F; Kenna, Jade E JE; Hoes, Madison E ME; Pfaff, Abigail L AL; Akkari, P Anthony PA; Dunlop, Sarah A SA; Kõks, Sulev S; Mastaglia, Frank L FL; Anderton, Ryan S RS
Preparation and Study of Sulfonated Co-Polynaphthoyleneimide Proton-Exchange Membrane for a H2/Air Fuel Cell.
Materials (Basel, Switzerland)
Zavorotnaya, Ulyana M UM; Ponomarev, Igor I II; Volkova, Yulia A YA; Modestov, Alexander D AD; Andreev, Vladimir N VN; Privalov, Alexei F AF; Vogel, Michael M; Sinitsyn, Vitaly V VV
Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis.
Biomedical Reports
Bautista-Medina, Mario Arturo MA; Gallardo-Blanco, Hugo Leonid HL; Martinez-Garza, Laura Elia LE; Cerda-Flores, Ricardo Martin RM; Lavalle-Gonzalez, Fernando Javier FJ; Villarreal-Perez, Jesus Zacarias JZ
Family-based exome sequencing combined with linkage analyses identifies rare susceptibility variants of MUC4 for gastric cancer.
Plos One
Choi, Yoon Jin YJ; Ohn, Jung Hun JH; Kim, Nayoung N; Kim, Wonji W; Park, Kyungtaek K; Won, Sungho S; Sael, Lee L; Shin, Cheol Min CM; Lee, Sun Min SM; Lee, Sejoon S; An, Hyun Joo HJ; Jang, Dong Man DM; Han, Byung Woo BW; Lee, Hye Seung HS; Kang, Seung Joo SJ; Kim, Joo Sung JS; Lee, Dong Ho DH
A genome-wide scan for pleiotropy between bone mineral density and nonbone phenotypes.
Bone Research
Christou, Maria A MA; Ntritsos, Georgios G; Markozannes, Georgios G; Koskeridis, Fotis F; Nikas, Spyros N SN; Karasik, David D; Kiel, Douglas P DP; Evangelou, Evangelos E; Ntzani, Evangelia E EE
Palomero, Luis L; Galván-Femenía, Ivan I; de Cid, Rafael R; Espín, Roderic R; Barnes, Daniel R DR; Cimba, ; Blommaert, Eline E; Gil-Gil, Miguel M; Falo, Catalina C; Stradella, Agostina A; Ouchi, Dan D; Roso-Llorach, Albert A; Violan, Concepció C; Peña-Chilet, María M; Dopazo, Joaquín J; Extremera, Ana Isabel AI; García-Valero, Mar M; Herranz, Carmen C; Mateo, Francesca F; Mereu, Elisabetta E; Beesley, Jonathan J; Chenevix-Trench, Georgia G; Roux, Cecilia C; Mak, Tak T; Brunet, Joan J; Hakem, Razq R; Gorrini, Chiara C; Antoniou, Antonis C AC; Lázaro, Conxi C; Pujana, Miquel Angel MA
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF