Results 241 to 250 of about 15,084,422 (295)

Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing. [PDF]

Hum Mutat
Qin S, Wang X, Wang J, Leng X, Zhang Z, Chen X, Yin Y.   +6 more
europepmc   +1 more source

The C‐terminal domain of yeast Arginyltransferase1 is essential for its catalytic activity

FEBS Open Bio, EarlyView.
Arginyltransferase 1 (Ate1), a eukaryotic enzyme, catalyses arginylation, transferring arginine from tRNA‐Arg to the amino terminus of the target protein. Overexpression of Ate1 in yeast is lethal and is dependent on arginylation. This study elucidates how mutations in the cofactor‐binding and active site of Ate1 and truncation of its structural ...
Vikas Kumar Yadav, Shweta Shweta, Manisha Malhotra, Vikash Maurya, Akhilesh Kumar   +4 more
wiley   +1 more source

Plasma heparan sulfate structural variation and phenotypic heterogeneity in pediatric Acute Respiratory Distress Syndrome. [PDF]

Sci Rep
Sallee CJ, Maddux AB, Hippensteel JA, Markovic D, Wang Z, Liu J, Oshima K, Richter RP, Schwingshackl A, Mourani PM, Elashoff D, Schmidt EP, Sapru A.   +12 more
europepmc   +1 more source

Genetic dissection of human ABCE1 in yeast reveals separable requirements for ribosome recycling and suppression of aberrant reinitiation

FEBS Open Bio, EarlyView.
Human ABCE1 cannot functionally replace its yeast ortholog. Yeast–human chimera analysis identified NBD1 as a major interspecies barrier. Genetic screening yielded hABCE1 revertants that rescue yeast viability but fail to suppress aberrant translation reinitiation in the 3′ UTR.
Eriko Nakata, Yuxin Li, Kei Endo, Koichi Ito   +3 more
wiley   +1 more source

Flexible and rapid validation of structural variation using adaptive sampling. [PDF]

Eur J Hum Genet
Paivandy A, Lenner F, Eisfeldt J, Jonson T, Ehrencrona H, Lindstrand A, Scherer SW, Feuk L.   +7 more
europepmc   +1 more source

Evaluating GenAI‐produced feedback on undergraduate bioscience essays against good higher education feedback practice

FEBS Open Bio, EarlyView.
This pilot study investigates the potential of Generative AI to provide formative feedback to students. ChatGPT was prompted to provide feedback on Year 1 Bioscience essays, which were evaluated against established good feedback practices. GenAI‐authored feedback had useful elements, but was limited in scope. GenAI may have potential to provide instant,
Annabel Court, Nigel Francis, Andrew Shore, Stephen Rutherford   +3 more
wiley   +1 more source

Lifespan brain structural variation reveals shared organization across mental health conditions

Hettwer MD, Saberi A, Shafiei G, Manoli A, De Boer AA, Alnæs D, Alonso P, Arango C, Assaf M, Avram M, Balachander S, Banaj N, Başgöze Z, Batistuzzo MC, Bauduin SE, Benedetti F, Bertolin S, Besteher B, Biagi L, Blair RJ, Blair K, Bölte S, Borgwardt S, Bosco P, Brambilla P, Bravi B, Brennan BP, Bruin WB, Busatto GF, Cairns MJ, Calderoni S, Calhoun V, Calvo R, Cano M, Carr VJ, Carruthers SP, Caruana GF, Caseras X, Catts SV, Chi I, Cobia D, Colombo F, Couto MB, Crespo-Facorro B, Cullen KR, Dannlowski U, Dapretto M, Di Martino A, Diefenbach GJ, Dols A, Duran F, Dzinalija N, Ecker C, Ehrlich S, Eng GK, Fair DA, Fernandes A, Feusner JD, Fonzo GA, Fuentes-Claramonte P, Gaab N, Godlewska BR, Goldstein BI, Gonul AS, Gotlib IH, Grabe HJ, Green MJ, Grotegerd D, Gruber O, Gruner P, Gupta AR, Gur RC, Gur RE, Haar S, Hamilton JP, Haukvik UK, Henskens FA, Hinc AC, Hirano Y, Hu H, Hughes ME, Iasevoli F, Im Y, Ipser J, Jabbar Abdl Sattar Hamoudi H, Jack A, Janiri D, Janssen J, Jaspers-Fayer F, Jensen KM, Jin J, Kaiser S, Kamishikiryo T, Kang MJY, Karuk A, Kathmann N, Kennedy KG, Kim M, King JA, Kircher T, Klahn AL, Klein DN, Koch K, Kochunov P, Kushki A, Kwon JS, Lake MT, Landén M, Lazaro L, Lebedeva I, Leila N, Li M, Lochner C, Loughland CM, Luna B, Remnélius KL, MacIntosh BJ, Mancini M, Manfro GG, Marsh R, Martinez-Zalacain I, Mataix-Cols D, McDonald C, McGrath J, Menchon JM, Morgado P, Mowry BJ, Mujica-Parodi LR, Muñoz E, Muratori F, Murphy D, Mwangi B, Narayanaswamy JC, Narumoto J, Nerland S, Neufeld J, Newman BT, Nielsen JA, Nurmi EL, O’Neill J, OHearn KM, Okada G, Oranje B, Pantelis C, Parker N, Pelphrey KA, Phillips ML, Piacentini J, Picó-Pérez M, Picotin R, Pigoni A, Piras F, Piras F, Pomarol-Clotet E, Pontillo G, Porta-Casteràs D, Portella MJ, Price RB, Quidé Y, Radua J, Ringin E, Rodriguez-Cano E, Rokicki J, Romero-Garcia R, Rossell S, Ruan H, Rubia K, Sacchet MD, Sakai Y, Salvador R, Sani G, Sato JR, Schmidt A, Scott RJ, Sellgren CM, Sempach L, Shimizu E, Shivakumar V, Sim K, Soares JC, Soreni N, Soriano-Mas C, Sousa N, Stein F, Steinhäuser-Meerz JL, Stern ER, Straube T, Strawn JR, Sumner PJ, Sungur I, Szeszko PR, Tammimies K, Tomyshev AS, Tosetti M, van de Mortel LA, van Horn JD, van Nieuwenhuizen H, van Rheenen TE, van Wingen G, Vecchio D, Venkatasubramanian G, Vieta E, Vilajosana E, Vives-Gilabert Y, Völzke H, Vriend C, Wallace GL, Wang Z, Walter M, Wang L, Webb SJ, Westlye LT, Whittle S, Wielpütz MO, Wittfeld K, Woods W, Wu M, Yang TT, Yatham LN, Yoshida T, Yoshinari A, Yun J, Zhao Q, Zunta-Soares GB, ENIGMA Autism Working Group, ENIGMA Anxiety Working Group, ENIGMA Bipolar Disorder Working Group, ENIGMA Major Depression Working Group, ENIGMA OCD Working Group, ENIGMA Schizo.   +229 more
europepmc   +1 more source

Structural Variation Sequencing of 26 Amniotic Fluid Samples With Partial Gene Duplications and Postnatal Follow-Up of the Fetuses. [PDF]

Prenat Diagn
Qin S, Wang X, Yan M, He Y, Zhang Z, Yin Y, Wang J, Guo B, Wang J, Xi N, Li Z.   +10 more
europepmc   +1 more source

Identification and characterization of a gene conferring stress resistance in Escherichia coli and cyanobacteria

FEBS Open Bio, EarlyView.
Functional screening identified PcSyn14890, a cyanobacteria‐specific protein that enhances growth and stress resistance in E. coli and Synechocystis PCC6803. Although we expected it to function as a molecular chaperone, it was unable to protect against thermal aggregation of GAPDH.
Akiyo Yamada, Takaaki Tanaka, Manaka Uehara, Keigo Nakano, Ken Morishima, Rintaro Inoue, Masaaki Sugiyama, Masafumi Yohda   +7 more
wiley   +1 more source