The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.
Nature Genetics
Surendran, Praveen P; Feofanova, Elena V EV; Lahrouchi, Najim N; Ntalla, Ioanna I; Karthikeyan, Savita S; Cook, James J; Chen, Lingyan L; Mifsud, Borbala B; Yao, Chen C; Kraja, Aldi T AT; Cartwright, James H JH; Hellwege, Jacklyn N JN; Giri, Ayush A; Tragante, Vinicius V; Thorleifsson, Gudmar G; Liu, Dajiang J DJ; Prins, Bram P BP; Stewart, Isobel D ID; Cabrera, Claudia P CP; Eales, James M JM; Akbarov, Artur A; Auer, Paul L PL; Bielak, Lawrence F LF; Bis, Joshua C JC; Braithwaite, Vickie S VS; Brody, Jennifer A JA; Daw, E Warwick EW; Warren, Helen R HR; Drenos, Fotios F; Nielsen, Sune Fallgaard SF; Faul, Jessica D JD; Fauman, Eric B EB; Fava, Cristiano C; Ferreira, Teresa T; Foley, Christopher N CN; Franceschini, Nora N; Gao, He H; Giannakopoulou, Olga O; Giulianini, Franco F; Gudbjartsson, Daniel F DF; Guo, Xiuqing X; Harris, Sarah E SE; Havulinna, Aki S AS; Helgadottir, Anna A; Huffman, Jennifer E JE; Hwang, Shih-Jen SJ; Kanoni, Stavroula S; Kontto, Jukka J; Larson, Martin G MG; Li-Gao, Ruifang R; 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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).
Bmc Plant Biology
Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D
Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy.
Annals Of Clinical And Translational Neurology
Dali, Christine Í CÍ; Barton, Norman W NW; Farah, Mohamed H MH; Moldovan, Mihai M; Månsson, Jan-Eric JE; Nair, Nitin N; Dunø, Morten M; Risom, Lotte L; Cao, Hongmei H; Pan, Luying L; Sellos-Moura, Marcia M; Corse, Andrea M AM; Krarup, Christian C