Results 241 to 250 of about 667,667 (355)

Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants. [PDF]

Sci Rep
Sakamoto S, Naya Y, Rii J, Taguchi K, Fujimura M, Shigeta Y, Chairoungdua A, Nishimura M, Wakai K, Yamada Y, Zhao X, Imamura Y, Tajima S, Sato N, Hosaka C, Sekine M, Ueda T, Hamamoto S, Yasui T, Kanai Y, Akakura K, Ikehara Y, Anzai N, Ichikawa T.   +23 more
europepmc   +1 more source

Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient [PDF]

, 1991
Krishna J. Fisher, Nathan N. Aronson
openalex   +1 more source

Restoring NK Cell Cytotoxicity Post‐Cryopreservation via Synthetic Cells

Advanced Science, EarlyView.
In this study, it is shown that 1‐day co‐culture with activated T cells or IL‐2‐presenting synthetic cells significantly enhances NK cell motility and cytotoxicity in 2D and 3D. Notably, synthetic cells restore the impaired cytotoxic function of cryopreserved NK and CAR‐NK cells in 3D.
Xiangda Zhou, Sijia Zhang, Wenjuan Yang, Susanne Gonder, Zeinab Sadjadi, Nils Piernitzki, Alina Moter, Shulagna Sharma, Anne Largeot, Nadja Küchler, Lea Kaschek, Gertrud Schäfer, Eva C. Schwarz, Hermann Eichler, Evelyn Ullrich, Heiko Rieger, Oskar Staufer, Jérôme Paggetti, Etienne Moussay, Markus Hoth, Bin Qu   +20 more
wiley   +1 more source

Tulp3 quantitative alleles titrate requirements for viability, brain development, and kidney homeostasis but do not suppress Zfp423 mutations in mice. [PDF]

PLoS Genet
McCoy CA, Concepcion D, Mezody MG, Lara RZ, Deshpande O, Liang C, Long R, Hamilton BA.   +7 more
europepmc   +1 more source

Alternative splicing of a previously unidentified CFTR exon introduces an in‐frame stop codon 5' of the R region [PDF]

, 1993
Carlos A. Melo, Cristina Helena dos Reis Serra, Violeta Stoyanova, Cristina Aguzzoli, D. Faraguna, Anna Tamanini, Giorgio Berton, Giulio Cabrini, Francisco E. Baralle   +8 more
openalex   +1 more source

Molecular Chain Elongation Mechanism for n‐Caproate Biosynthesis by Megasphaera Hexanoica

Advanced Science, EarlyView.
The medium‐chain carboxylate‐producing microbe Megasphaera hexanoica is analyzed through genomics, transcriptomics, and metabolic engineering. The n‐caproate biosynthetic pathway is reconstructed in Escherichia coli, highlighting MhTHL as a key β‐ketothiolase. Structural analysis and mutagenesis reveal that MhTHL has a distinct substrate‐binding pocket,
Byoung Seung Jeon, Eun‐Jung Kim, Hogyun Seo, Hyunjin Kim, Seungjin Shin, Caroline Schlaiß, Largus T. Angenent, Kyung‐Jin Kim, Byoung‐In Sang   +8 more
wiley   +1 more source

Using single-cell perturbation screens to decode the regulatory architecture of splicing factor programs. [PDF]

Nucleic Acids Res
Anglada-Girotto M, Miravet-Verde S, Serrano L.   +2 more
europepmc   +1 more source

Targeting RBM10‐Repressed RORB Activity in Liquid Condensates Inhibits Lysosomal Biogenesis and Neuroblastoma Progression via Affecting NF‐κB Signaling

Advanced Science, EarlyView.
This study identifies that RBM10 represses the transcriptional activity of RORB in liquid condensates, resulting in down‐regulation of NR1D1 and RIOK3 that further activates NF‐κB activity to facilitate lysosomal biogenesis and aggressive features of NB cells.
Yanhua Guo, Xiaojing Wang, Chunhui Yang, Zhijie Wang, Xiaolin Wang, Xinyue Li, Jiaying Qu, Shunchen Zhou, Liduan Zheng, Qiangsong Tong   +9 more
wiley   +1 more source

The modern expansion of Dscam1 isoform diversity in Drosophila is linked to fitness and immunity. [PDF]

PLoS Biol
Dong H, Wu L, Wang Z, Qu H, Xie J, Liu Y, Lv J, Bao N, Zhang J, Guo P, Yan R, Fu J, Shi J, Fu Y, Li L, Du Y, Ma H, Shi F, Huang J, Jin Y.   +19 more
europepmc   +1 more source

Protocols for trapping internal and 3'-terminal exons. [PDF]

, 1994
Paul E. Nisson, Adrian Ally, Paul C. Watkins   +2 more
openalex   +1 more source