Results 261 to 270 of about 262,173 (350)

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia. [PDF]

Nat Commun
Menden B, Incebacak Eltemur RD, Demidov G, Sturm M, Park J, Huridou C, Fath F, Nümann A, Baumann A, Diets IJ, Dufke C, Regensburger M, Rönnefarth M, Wilke V, van Os N, Vielhaber S, Rattay TW, Kohl Z, Peralta S, Pereira Sena P, Kellner M, Weissert N, Traschütz A, Zeltner L, Boelmans K, Deininger N, Schütz L, Gross C, Hinojosa Amaya AB, Raupach K, Hengel H, Harmuth F, Admard J, Bader I, Baumann S, Bender F, Bevot A, Bischoff A, Boschann F, Buchert R, Buchzik D, Casadei N, Catarino CB, Cordts I, Cremer K, Doebler-Neumann M, Ehmke N, Elbracht M, Falb RJ, Feindt T, Fleszar Z, Gerstner L, Gläser D, Grasshoff U, Grosch S, Grundmann K, Gutschalk A, Haaga M, Hayer S, Hehr U, Hellenbroich Y, Henn W, Herr B, Herzog R, Horber V, Deppe J, Kaiser N, Kehrer C, Kehrer M, Kern J, Keßler C, Khuller K, Klinkhammer H, Kotzaeridou U, Krawitz P, Kreiss M, Küpper H, Kuster A, Laugwitz L, Lesemann A, Lichey N, Linden T, Macek B, Magg J, Mangold E, Manka E, Marquardt I, Mehnert K, Mengel D, Morlot S, Oehl-Jaschkowitz B, Pauly MG, Philipp M, Radelfahr F, Rautenberg M, Riess A, Saft C, Schlotter-Weigel B, Schmidt A, Schwaibold EMC, Spahlinger V, Spranger S, Steiner KM, Stendel C, Thieme A, Tzschach A, Velic A, Wiethoff S, Wilke C, Züchner S, Zittel S, Solve-RD consortium, Husain RA, Deschauer M, Distelmaier F, Dufke A, Graessner H, Hemmer B, Jacobi H, Klockgether T, Klopstock T, Kobeleva X, Korenke GC, Kuechler A, Kuhlenbäumer G, Kurth I, Nguyen HP, Wunderlich G, Zeuner KE, Klebe S, Auer-Grumbach M, Butryn M, Winkler J, Timmann D, Synofzik M, van de Warrenburg B, Schüle R, Schöls L, Ossowski S, Riess O, Weber JJ, Haack TB.   +141 more
europepmc   +1 more source

Contribution of physicochemical properties, cell phenotype and genetics to variability of engineered nanomaterial-induced mast cell activation

, 2017
Johnson, Monica Marie
openalex   +1 more source

KLK7 overexpression promotes an aggressive phenotype and facilitates peritoneal dissemination in colorectal cancer cells

FEBS Open Bio, EarlyView.
KLK7, a tissue kallikrein‐related peptidase, is elevated in advanced colorectal cancer and associated with shorter survival. High KLK7 levels in ascites correlate with peritoneal metastasis. In mice, KLK7 overexpression increases metastasis. In vitro, KLK7 enhances cancer cell proliferation, migration, adhesion, and spheroid formation, driving ...
Yosr Z. Haffani, Tobias Dreyer, Meriem Naim, Rea Lo Dico, Natalia A. Ignatenko, Viktor Magdolen, Dalila Darmoul   +6 more
wiley   +1 more source

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6. [PDF]

Clin Genet
Misceo D, Terkelsen T, Bøen Keim SM, Bjørnstad PM, Strand ME, Orszagh VC, Jensen UB, Frengen E.   +7 more
europepmc   +1 more source

Mycobacterial cell division arrest and smooth‐to‐rough envelope transition using CRISPRi‐mediated genetic repression systems

FEBS Open Bio, EarlyView.
CRISPRI‐mediated gene silencing and phenotypic exploration in nontuberculous mycobacteria. In this Research Protocol, we describe approaches to control, monitor, and quantitatively assess CRISPRI‐mediated gene silencing in M. smegmatis and M. abscessus model organisms.
Vanessa Point, Wafaa Achache, Janïs Laudouze, Eliana Sepulveda Ramos, Mickaël Maziero, Céline Crauste, Stéphane Canaan, Pierre Santucci   +7 more
wiley   +1 more source

CrebA regulation of secretory capacity: genome-wide transcription profiling coupled with in vivo DNA binding studies. [PDF]

Genetics
Jackson DJ, Peng D, Shinde SA, Holenarasipura A, Ajay V, Cahan P, Andrew DJ.   +6 more
europepmc   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Temporal dynamics and functional annotation of transcriptome rhythmicity in HEK293T cells. [PDF]

PLoS One
Sun Y, Dong H, Ge F, Zhao Y, Yang S, Ding Y, Dong M, Wang L, Zhang T.   +8 more
europepmc   +1 more source

The role of lipid metabolism in neuronal senescence

FEBS Open Bio, EarlyView.
Disrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Dikaia Tsagkari, Eleftheria Panagiotidou, Nektarios Tavernarakis   +2 more
wiley   +1 more source

Microglial dynamics and ferroptosis induction in human iPSC‐derived neuron–astrocyte–microglia tri‐cultures

FEBS Open Bio, EarlyView.
A tri‐culture of iPSC‐derived neurons, astrocytes, and microglia treated with ferroptosis inducers as an Induced ferroptosis model was characterized by scRNA‐seq, cell survival, and cytokine release assays. This analysis revealed diverse microglial transcriptomic changes, indicating that the system captures key aspects of the complex cellular ...
Hongmei Lisa Li, Hiroko Ohmiya, Sou Sakamoto, Masato Yugami, Akiko Oki, Makoto Furusawa, Yan Ling   +6 more
wiley   +1 more source