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
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
Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
A large Canadian cohort provides insights into the genetic architecture of human hair colour.
Communications Biology
Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ
Flavonoids increase melanin production and reduce proliferation, migration and invasion of melanoma cells by blocking endolysosomal/melanosomal TPC2.
Scientific Reports
Netcharoensirisuk, Ponsawan P; Abrahamian, Carla C; Tang, Rachel R; Chen, Cheng-Chang CC; Rosato, Anna Scotto AS; Beyers, Wyatt W; Chao, Yu-Kai YK; Filippini, Antonio A; Di Pietro, Santiago S; Bartel, Karin K; Biel, Martin M; Vollmar, Angelika M AM; Umehara, Kaoru K; De-Eknamkul, Wanchai W; Grimm, Christian C
Germline Genetic Variants of Viral Entry and Innate Immunity May Influence Susceptibility to SARS-CoV-2 Infection: Toward a Polygenic Risk Score for Risk Stratification.
Frontiers In Immunology
Grolmusz, Vince Kornél VK; Bozsik, Anikó A; Papp, János J; Patócs, Attila A
Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency.
Plos Genetics
Batai, Ken K; Cui, Zuxi Z; Arora, Amit A; Shah-Williams, Ebony E; Hernandez, Wenndy W; Ruden, Maria M; Hollowell, Courtney M P CMP; Hooker, Stanley E SE; Bathina, Madhavi M; Murphy, Adam B AB; Bonilla, Carolina C; Kittles, Rick A RA
Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect.
Plos Genetics
Böck, Julia J; Krogsaeter, Einar E; Passon, Marcel M; Chao, Yu-Kai YK; Sharma, Sapna S; Grallert, Harald H; Peters, Annette A; Grimm, Christian C
Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.
Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Agonist-mediated switching of ion selectivity in TPC2 differentially promotes lysosomal function.
Elife
Gerndt, Susanne S; Chen, Cheng-Chang CC; Chao, Yu-Kai YK; Yuan, Yu Y; Burgstaller, Sandra S; Scotto Rosato, Anna A; Krogsaeter, Einar E; Urban, Nicole N; Jacob, Katharina K; Nguyen, Ong Nam Phuong ONP; Miller, Meghan T MT; Keller, Marco M; Vollmar, Angelika M AM; Gudermann, Thomas T; Zierler, Susanna S; Schredelseker, Johann J; Schaefer, Michael M; Biel, Martin M; Malli, Roland R; Wahl-Schott, Christian C; Bracher, Franz F; Patel, Sandip S; Grimm, Christian C
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
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.
Human Molecular Genetics
Zorina-Lichtenwalter, Katerina K; Lichtenwalter, Ryan N RN; Zaykin, Dima V DV; Parisien, Marc M; Gravel, Simon S; Bortsov, Andrey A; Diatchenko, Luda L
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.
Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.
Bmc Medical Genomics
Gerhard, Glenn S GS; Jin, Qunyan Q; Paynton, Barbara V BV; Popoff, Steven N SN
Publication Date: 2016-10-06
Variant appearance in text: TPCN2: Met484Leu; rs35264875
Crowdsourced direct-to-consumer genomic analysis of a family quartet.
Bmc Genomics
Corpas, Manuel M; Valdivia-Granda, Willy W; Torres, Nazareth N; Greshake, Bastian B; Coletta, Alain A; Knaus, Alexej A; Harrison, Andrew P AP; Cariaso, Mike M; Moran, Federico F; Nielsen, Fiona F; Swan, Daniel D; Weiss Solís, David Y DY; Krawitz, Peter P; Schacherer, Frank F; Schols, Peter P; Yang, Huangming H; Borry, Pascal P; Glusman, Gustavo G; Robinson, Peter N PN