Results 271 to 280 of about 881,725 (335)

Allele frequencies of BRAFV600 mutations in primary melanomas and matched metastases and their relevance for BRAF inhibitor therapy in metastatic melanoma

, 2015
Imke Satzger, Lena Marks, Martin Kerick, Sven Klages, Carola Berking, Rudolf Herbst, B. Völker, Vivien Schacht, Bernd Timmermann, Ralf Gutzmer   +9 more
openalex   +2 more sources

Alzheimer's Disease Risk Factor APOE4 Exerts Dimorphic Effects on Female Bone

Advanced Science, EarlyView.
In aging bone, osteocytes accumulate neurodegenerative risk factor Apolipoprotein E (APOE). A humanized version of the Alzheimer's disease risk allele APOE4 altered the mouse bone transcriptome and proteome, with effects in female bone surpassing the brain, including bone fragility due to suppressed osteocytic maintenance of bone quality, identifying ...
Charles A. Schurman, Gurcharan Kaur, Serra Kaya, Joanna Bons, Carlos Galicia Aguirre, Qi Liu, Christina D. King, Kenneth A. Wilson, Harrison L. Baker, Mikayla Hady, Nadja Maldonado Luna, Gregor Bieri, Saul A. Villeda, Lisa M. Ellerby, Birgit Schilling, Tamara Alliston   +15 more
wiley   +1 more source

Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations. [PDF]

Genome Med
Duan RV, Du H, Pande S, Saad AK, Atik MM, Jamsandekar M, Coveler KJ, Dardas Z, Jhangiani SN, Posey JE, Gibbs RA, Lupski JR.   +11 more
europepmc   +1 more source

Multi‐Omics Insights Into the Mechanisms of Early Muscle Fiber Difference and Transformation Between Lean‐Type and Chinese Indigenous Pigs

Advanced Science, EarlyView.
Multi‐omics analyses uncover breed‐specific cis‐regulatory landscapes and higher‐order chromatin architectural differences that underlie early postnatal muscle fiber divergence in pigs. A super‐enhancer upstream of PPP3CB recruits MEF2C to activate PPP3CB transcription, while the PPP3CB–MEF2C positive feedback loop promotes oxidative muscle fiber ...
Shuailong Zheng, Hainan Wu, Min Liu, Kunpeng Wu, Shuntao Huang, Zulfiqar Ahmed, Lenox Pius, Mengjin Zhu, Dequan Xu   +8 more
wiley   +1 more source

Case Report: Allogeneic hematopoietic stem cell transplantation in a patient with triple-allele expression at both HLA-B and HLA-C loci. [PDF]

Front Immunol
Fujita Y, Yoshihara K, Takahashi D, Tanaka H, Kino Y, Yamagata F, Samori M, Takahashi S, Yoshihara S.   +8 more
europepmc   +1 more source

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, EarlyView.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source

The effect of long-range linkage disequilibrium on allele-frequency dynamics under stabilizing selection. [PDF]

PLoS Genet
Negm S, Veller C.
europepmc   +1 more source

TopCas: Topology‐Gated Cas12a via DNA‐RNA Chimeric Circular crRNA for Amplification‐Free Nucleic Acid Detection and Conditional Gene Editing

Advanced Science, EarlyView.
The TopCas platform utilizes an engineered DNA‐RNA chimeric circular crRNA to establish topology‐gated control over CRISPR‐Cas12a activity, enabling target‐triggered self‐catalytic amplification (preamplification‐free). This system seamlessly integrates highly sensitive molecular diagnostics with conditionally controlled gene editing, demonstrating ...
Shun Zhang, Wen Sun, Ting Xiao, Yali Wang, Xianlan Wu, Huiyou Chen, Ming Chen, Jun Zhang   +7 more
wiley   +1 more source

The Landscape and Regulation of Histone Crotonylation in Mammalian Gametes and Early Embryos

Advanced Science, EarlyView.
Histone crotonylation undergoes a genome‐wide transition from broad domains to canonical narrow peaks during minor zygotic genome activation (ZGA). This remodeling is required for proper major ZGA and blastocyst formation. Disruption of this transition by transcriptional inhibition, metabolic perturbation, or HDAC1 dysfunction impairs embryonic ...
Shenli Yuan, Yelian Yan, Yalin Liang, Kanghua Zhong, Zhican Fu, Xiaobo Wang, Chao Liu, Tao Huang, Keliang Wu   +8 more
wiley   +1 more source

SDS‐CRISPR for Single‐Nucleotide Variant Detection

Advanced Science, EarlyView.
Structure‐disruption‐sensitive CRISPR (SDS‐CRISPR) converts structural instability into single‐nucleotide precision, thereby overcoming mismatch tolerance in canonical Cas12a and enabling versatile diagnostics across DNA, RNA, and microRNA targets. When applied to rapid IDH1 mutation detection for glioma genotyping and integrated with lateral‐flow ...
Xin Guan, Chong Guo, Jiongyu Zhang, Rui Yang, Yerramsetti Ramachandra, Chengyu Hou, Minjie Pei, Shuo Zhang, Kurt T. Schalper, Xingye Liu, Qian Wu, Ketan R. Bulsara, Changchun Liu   +12 more
wiley   +1 more source